Aa
4 year old child with recurring low grade fever - numerous swollen lymphnodes
My son is 4 years old and has had swollen lymph nodes on the back of his neck, under his arm, and in his groin - they've been swollen for over 3 months. The largest node measures 2.8 x 1.5 x .7. He's had numerous rounds of antibiotics, and they haven't gone down. He's had blood work done, which was relatively normal - although he is anemic. He's had a very low grade fever off and on for 2 weeks of around 99-100. He had an abdominal/Pelvis CT done, and it also showed enlarged lymph nodes in his abdomen. He also had an ultrasound which didn't provide much information. His LDH, WBC are normal. His RBC are slightly low. Hemoglobin is low, Hematocrit is low, Monocytes are high, Monos Absolutes are high, Basophils Absolute is high, Eosinophils is high, Neutrophils is high.
He has a half brother who is in remission from Neuroblastoma. They ruled out any masses/tumors in my child, so I'm sure his isn't Neuroblastoma. I'm wondering if what my son is experiencing sounds like Lymphoma?
This waiting period is the longest... We have to wait 2 weeks his CT of the neck and chest. We will also be going forward with a lymph node biopsy.
He has a half brother who is in remission from Neuroblastoma. They ruled out any masses/tumors in my child, so I'm sure his isn't Neuroblastoma. I'm wondering if what my son is experiencing sounds like Lymphoma?
This waiting period is the longest... We have to wait 2 weeks his CT of the neck and chest. We will also be going forward with a lymph node biopsy.
COMMUNITY LEADER
Hi, did it turn our to be NRAS-associated RALD (NRAS-associated autoimmune leukoproliferative disorder)?
COMMUNITY LEADER
Yep, but every doc knows about macrocytic ('large cell' anemia, so don't muddy the waters with that. Likewise that B12 deficiency can also cause neuropathy.
Make sure you do mention that our ALPS->B12 source is NIH (but never mention a non-authoritative site like walkinlabs).
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Speaking of NIH:
https://rarediseases.info.nih.gov/diseases/8686/autoimmune-lymphoproliferative-syndrome
"Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, ***NERVES****, or connective tissues."
So there we have it stated about neuropathy. You can and should also show that to any doc that you visit.
Make sure you do mention that our ALPS->B12 source is NIH (but never mention a non-authoritative site like walkinlabs).
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Speaking of NIH:
https://rarediseases.info.nih.gov/diseases/8686/autoimmune-lymphoproliferative-syndrome
"Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, ***NERVES****, or connective tissues."
So there we have it stated about neuropathy. You can and should also show that to any doc that you visit.
2 Comments
Which is Guillain-Barre (gee-YAH-buh-RAY) syndrome. I don't know if that fits or not.
https://www.mayoclinic.org/diseases-conditions/guillain-barre-syndrome/symptoms-causes/syc-20362793
https://www.mayoclinic.org/diseases-conditions/guillain-barre-syndrome/symptoms-causes/syc-20362793
I don't think the Guillain-Barré syndrome matches my son's symptoms because it's been steadily in his feet and legs for months. From what I read, it gets really bad, to the point of paralysis.
But, he does get bad rashes on his hands, arms and trunk. Swollen &a painful joints - but rheum ruled out arthritis. So it's really like a puzzle
But, he does get bad rashes on his hands, arms and trunk. Swollen &a painful joints - but rheum ruled out arthritis. So it's really like a puzzle
COMMUNITY LEADER
That's something that you can accomplish yourself immediately (and feel less helpless): phone to get a doc of his to order the B12 test. If it comes back way above normal then that will strongly prompt everybody to pursue ALPS testing. What I cited is from the National Institute of Health, which is very much an authoritative source.
Or you can even get it yourself for ~ $30, no script needed:
https://www.walkinlab.com/catalogsearch/result/?q=b12
Or you can even get it yourself for ~ $30, no script needed:
https://www.walkinlab.com/catalogsearch/result/?q=b12
1 Comments
Thanks, I'm gonna call his Dr and have him order the test. I was looking on the sight you posted. And it states: "A Vitamin B12 Blood Test may be ordered if a CBC with Differential detects large red blood cells".
My son's red blood cells are large! His RDW is 15.8%. I also read, that that can mean he's B12 deficient?
My son's red blood cells are large! His RDW is 15.8%. I also read, that that can mean he's B12 deficient?
COMMUNITY LEADER
Has he had B12 tested? Because: "People with ALPS-FAS tend to have much higher B12 levels than do healthy people..."
https://www.niaid.nih.gov/diseases-conditions/alps-symptoms-diagnosis
https://www.niaid.nih.gov/diseases-conditions/alps-symptoms-diagnosis
1 Comments
He's never had his B12 tested.
He's tried steroids in the past when he spikes really high fevers. (Previously diagnosed with a fever syndrome - that his rheum thinks she now misdiagnosed)
His body can't handle steroids. Even on the lowest dose, he gets "steroid psychosis" and freaks out.
He's tried steroids in the past when he spikes really high fevers. (Previously diagnosed with a fever syndrome - that his rheum thinks she now misdiagnosed)
His body can't handle steroids. Even on the lowest dose, he gets "steroid psychosis" and freaks out.
COMMUNITY LEADER
Regarding neuropathy: I see nothing directly for ALPS or NRALD. But there certainly are well known autoimmune neuropathies (such as lupus) that are unrelated to ALPS/NRALD. The neuropathy comes about because the immune system attacks nerves directly.
We know that the A in ALPS and NRALD stands for autoimmune. Attacking red blood cells is a known result. So it's entirely possible that ALPS/NRALD can cause also neuropathy.
The cited paper by Oliveira on "How I treat ALPS..." says that steroids are ineffective in reducing the nodes in ALPS, because steroids don't reduce the huge numbers of runaway T-cells that are filling up the nodes. However, steroids are also used to suppress autoimmunity, which is a different matter altogether. That would be something to eventually discuss with doctors, even though there are some bad downsides to taking high dose steroids for long periods.
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As for the CD4 and CD8 numbers... I was hoping for something telling the measured number of DNT cells. Like exactly this test: http://ltd.aruplab.com/Tests/Pub/2014513 That's probably the test he needs, wherever you can find it.
We know that the A in ALPS and NRALD stands for autoimmune. Attacking red blood cells is a known result. So it's entirely possible that ALPS/NRALD can cause also neuropathy.
The cited paper by Oliveira on "How I treat ALPS..." says that steroids are ineffective in reducing the nodes in ALPS, because steroids don't reduce the huge numbers of runaway T-cells that are filling up the nodes. However, steroids are also used to suppress autoimmunity, which is a different matter altogether. That would be something to eventually discuss with doctors, even though there are some bad downsides to taking high dose steroids for long periods.
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As for the CD4 and CD8 numbers... I was hoping for something telling the measured number of DNT cells. Like exactly this test: http://ltd.aruplab.com/Tests/Pub/2014513 That's probably the test he needs, wherever you can find it.
COMMUNITY LEADER
Let's get back to the DNT cells for a bit. In the flow cytometry results, do you see anything that talks about CD4 or CD8?
T-cells would normally have one or the other. When a T-cell has neither, that's a DNT (Double Negative T-cell). Having lots of DNTs is a strong sign of ALPS. But having symptoms like ALPS with few or no DNTs points to NRALD instead.
You posted earlier today about "T Cell Markers are high - up to 88% positive". I don't know if they were counting CD4 and CD8 or not. (Maybe only CD3. That is the main "marker" for T-cells.)
Btw, I hope that when you finally get a diagnosis that you do post that here.
T-cells would normally have one or the other. When a T-cell has neither, that's a DNT (Double Negative T-cell). Having lots of DNTs is a strong sign of ALPS. But having symptoms like ALPS with few or no DNTs points to NRALD instead.
You posted earlier today about "T Cell Markers are high - up to 88% positive". I don't know if they were counting CD4 and CD8 or not. (Maybe only CD3. That is the main "marker" for T-cells.)
Btw, I hope that when you finally get a diagnosis that you do post that here.
2 Comments
It says:
CD4 - 70% positive
CD8 - 15% positive
CD3- 87% positive
CD4 - 70% positive
CD8 - 15% positive
CD3- 87% positive
With your help, I feel much closer to a diagnosis. I'll def post it here!
COMMUNITY LEADER
Nope, I looked and haven't seen anything about neuropathy with ALPS. But neuropathy is found in another lymphoproliferative disorder called Multicentric Castleman's Disease (MCD), though that's usually found in much older people. It's found in POEMS Syndrome, but that has skin darkening.
This gets back to what I'd said way before, that rare immune conditions can take a long time to diagnose because there is a lot of mystery to them.
It might be that your son doesn't fit an any established category. After the trial with colchecine is over and presumably has no benefit, they might want to try immune suppression with steroids, just to see if that helps with symptoms.
Some of the ALPS like conditions eventually get better by themselves, so that's something to hope for.
This gets back to what I'd said way before, that rare immune conditions can take a long time to diagnose because there is a lot of mystery to them.
It might be that your son doesn't fit an any established category. After the trial with colchecine is over and presumably has no benefit, they might want to try immune suppression with steroids, just to see if that helps with symptoms.
Some of the ALPS like conditions eventually get better by themselves, so that's something to hope for.
COMMUNITY LEADER
It's good to ask questions now while things are fresh in my mind. Otherwise, after a week or so, some things will be forgotten and I won't have time to read back.
Also, an observation: I think that the lack of splenomegaly is a very good thing because it probably means a milder case or a less advanced case. The lack probably should not rule out NRALD.
If any doc wants a BMB for any reason other than DDx'ing ALPS vs NRALD, I'd resist that because that's just sidetracking. But if later on, if ALPS and NRALD happened to be ruled out (unlikely), I'd press very much for the BMB in order to gather more clues.
That's the % of the cells that lit up (fluoresced from being tagged). What stands out is that the quantity of T-cells is high but not the B-cells. That's probably consistent with both ALPS and NRALD. The 'A' in those names is for autoimmune. T-cells can be killer cells, possibly they are destroying red blood cells which accounts for the 'debris' noted in the flow cytometry (and the anemia). (That also relates to there being no good reason to suspect that RBCs are low because of some problem in the marrow, and hence why no BMB should be done at this time.)
They can rule out cancer by testing that the T-cells are not all alike (not 'clonal'). Cancer cells would all come from one starter cell, so they are clonal. Your son's T-cells very likely are not clonal.
"Is this why his doctors are thinking it's ALPS?" Yes. The 'L' in ALPS stands for lymphoproliferative and the L in NRALD is similar, standing for leukoproliferative (lymphocytes plus all other white cells, such as were mysteriously high in his CBCs.)
Also, an observation: I think that the lack of splenomegaly is a very good thing because it probably means a milder case or a less advanced case. The lack probably should not rule out NRALD.
If any doc wants a BMB for any reason other than DDx'ing ALPS vs NRALD, I'd resist that because that's just sidetracking. But if later on, if ALPS and NRALD happened to be ruled out (unlikely), I'd press very much for the BMB in order to gather more clues.
That's the % of the cells that lit up (fluoresced from being tagged). What stands out is that the quantity of T-cells is high but not the B-cells. That's probably consistent with both ALPS and NRALD. The 'A' in those names is for autoimmune. T-cells can be killer cells, possibly they are destroying red blood cells which accounts for the 'debris' noted in the flow cytometry (and the anemia). (That also relates to there being no good reason to suspect that RBCs are low because of some problem in the marrow, and hence why no BMB should be done at this time.)
They can rule out cancer by testing that the T-cells are not all alike (not 'clonal'). Cancer cells would all come from one starter cell, so they are clonal. Your son's T-cells very likely are not clonal.
"Is this why his doctors are thinking it's ALPS?" Yes. The 'L' in ALPS stands for lymphoproliferative and the L in NRALD is similar, standing for leukoproliferative (lymphocytes plus all other white cells, such as were mysteriously high in his CBCs.)
1 Comments
One more question:
Have you heard of peripheral neuropathy with either of the listed conditions? It's been a symptom of his that's had all the doctors scratching their heads.
it's in his legs and feet. It's worse at night and when we're traveling for an extended period of time. He can't even walk/stand longer than 5 minutes at a time without having issues.
Have you heard of peripheral neuropathy with either of the listed conditions? It's been a symptom of his that's had all the doctors scratching their heads.
it's in his legs and feet. It's worse at night and when we're traveling for an extended period of time. He can't even walk/stand longer than 5 minutes at a time without having issues.
COMMUNITY LEADER
"I'm going to do a ton of research to bring to the attention of his doctors!"
That is a terrific attitude on your part. Bravo. When you've been studying so much that it feels like your head might explode, you know you are doing this right :)
"Tissue Immunohistochemistry" means that in a lab they use antibodies (part of the immune system) which are engineered to attach to only particular molecules. If those molecules are not present, the antibodies just wash away. It's kind of like staining.
That is a terrific attitude on your part. Bravo. When you've been studying so much that it feels like your head might explode, you know you are doing this right :)
"Tissue Immunohistochemistry" means that in a lab they use antibodies (part of the immune system) which are engineered to attach to only particular molecules. If those molecules are not present, the antibodies just wash away. It's kind of like staining.
2 Comments
My next questions - sorry I'm full of questions now....
On the Flow Cytometric Analysis, there's a chart (I wish there was a way I could attach the entire report) that states "# Events Analyzed - 10,000".
Flow Differentials (% of Events):
Lymphocytes 97%
Myeloid 0%
Monocytes 0%
Plasma Cells 0 %
Debris/nRBC 3%
Other Cells 0 %
Lymphocyte Gate
B Cell Markers are low - all under 10% positive.
T Cell Markers are high - up to 88% positive.
I can include the different stains if it makes more sense...
But, does that mean that of the cells they tested in my son's lymph nodes, that 97% of them were lymphocytes?
Is this why his doctors are thinking it's ALPS? This stuff is so confusing.
On the Flow Cytometric Analysis, there's a chart (I wish there was a way I could attach the entire report) that states "# Events Analyzed - 10,000".
Flow Differentials (% of Events):
Lymphocytes 97%
Myeloid 0%
Monocytes 0%
Plasma Cells 0 %
Debris/nRBC 3%
Other Cells 0 %
Lymphocyte Gate
B Cell Markers are low - all under 10% positive.
T Cell Markers are high - up to 88% positive.
I can include the different stains if it makes more sense...
But, does that mean that of the cells they tested in my son's lymph nodes, that 97% of them were lymphocytes?
Is this why his doctors are thinking it's ALPS? This stuff is so confusing.
Also, do you think a bone marrow biopsy might aid in finding anything else out? I'm awaiting a call from a children's hospital in Madera to set up an appointment with a different hematologist & rheumatologist.
I don't want to put my son through that, but if it's gonna help then I'm going to request one.
I don't want to put my son through that, but if it's gonna help then I'm going to request one.
COMMUNITY LEADER
"Sinus Expansion" Sinus refers to an area inside a node, expansion refers to the cells having multiplied. Does that help differentiate? I dunno, that would take researching. Things are further complicated because there are always "atypical cases" of medical conditions.
For the rest, BCL2 stands out. Don't get alarmed because you will see that as being part of lymphoma - because the ped onc didn't get alarmed. BCL2 is involved in inhibiting apoptosis, which we are looking at as also being the reason for *benign* proliferation of the B-cells.
For the rest, BCL2 stands out. Don't get alarmed because you will see that as being part of lymphoma - because the ped onc didn't get alarmed. BCL2 is involved in inhibiting apoptosis, which we are looking at as also being the reason for *benign* proliferation of the B-cells.
COMMUNITY LEADER
"Would the NRAS gene be included on a full genome panel when dealing with neuroblastoma? "
You're right, that's exactly the most important question. For starters, look for the workup procedure on sites like Medscape etc. My guess is that it is not a part of normal testing,
You're welcome and good luck. You can print those 2 papers that I posted and highlight the appropriate parts. They are "authoritative sources" that any doc should take seriously. Most other sources (like blogs or wikipedia) would be scoffed at.
I would call those 2 docs offices (that I'd named) and see if they are interested in receiving your son's records to aid in their research. Since this is quite rare, and your son possibly has an even rarer version, they might be interested in another "data point".
This condition is all about apoptosis (normal and benign programmed cell death) failing to occur, because the chemical signals aren't working. So the cells pile up.
You're right, that's exactly the most important question. For starters, look for the workup procedure on sites like Medscape etc. My guess is that it is not a part of normal testing,
You're welcome and good luck. You can print those 2 papers that I posted and highlight the appropriate parts. They are "authoritative sources" that any doc should take seriously. Most other sources (like blogs or wikipedia) would be scoffed at.
I would call those 2 docs offices (that I'd named) and see if they are interested in receiving your son's records to aid in their research. Since this is quite rare, and your son possibly has an even rarer version, they might be interested in another "data point".
This condition is all about apoptosis (normal and benign programmed cell death) failing to occur, because the chemical signals aren't working. So the cells pile up.
2 Comments
...and as your son's records might aid in their research, you would get the benefit of their opinions on your son.
One thing I did forget to mention on his path report was "Sinus Expansion". I'm not sure what it means.
Also:
Tissue Immunohistochemistry states:
Antibody - Results in lymphoid cells
CD20 - in background B-cells
BCL2 - Positive outside of germinal centers
CD3 - Positive in background T- Cells
CD30 - Positive in Reactive immunoblasts
CD 15 - Positive in granulocytes
CD 21 - Positive in collections of follicular dendric cells
I'm not sure what any of that means, and his Doctors haven't commented much about it. I wonder if any of that information can help point to what you were talking about, NRAS-associated RALD?
Also:
Tissue Immunohistochemistry states:
Antibody - Results in lymphoid cells
CD20 - in background B-cells
BCL2 - Positive outside of germinal centers
CD3 - Positive in background T- Cells
CD30 - Positive in Reactive immunoblasts
CD 15 - Positive in granulocytes
CD 21 - Positive in collections of follicular dendric cells
I'm not sure what any of that means, and his Doctors haven't commented much about it. I wonder if any of that information can help point to what you were talking about, NRAS-associated RALD?
COMMUNITY LEADER
Here is another important paper from Oliveira. It even discusses how your son's condition can almost mimic a T-cell lymphoma, which is what the path report wanted ruled out.
"How I treat autoimmune lymphoproliferative syndrome"
http://www.bloodjournal.org/content/118/22/5741?sso-checked=true
"The diagnostic workup for ALPS after a lymph node biopsy should include flow cytometry, immunohistochemical evaluations, or molecular studies that rule out clonal B- and T-cell population."
"How I treat autoimmune lymphoproliferative syndrome"
http://www.bloodjournal.org/content/118/22/5741?sso-checked=true
"The diagnostic workup for ALPS after a lymph node biopsy should include flow cytometry, immunohistochemical evaluations, or molecular studies that rule out clonal B- and T-cell population."
2 Comments
I spoke with my son's brothers mom, and she said they ran an entire genome panel on her son and everything came back normal. They claimed his neuroblastoma was completely spontaneous. Would the NRAS gene be included on a full genome panel when dealing with neuroblastoma?
I just think it's too coincidental that there is a common gene that can tie the two diseases together.
I just think it's too coincidental that there is a common gene that can tie the two diseases together.
And, thank you for all of this information. I'm going to do a ton of research to bring to the attention of his doctors!
COMMUNITY LEADER
Rough overview:
Good, that brings things right back to my first reply to you, "His CBC seems very unusual, enough to point to something besides cancer." The unusual aspect was monocytosis and granulocytosis (the eosinophils and basophils).
But when the rheumy says "...Autoimmune Lymphoproliferative Disorder. She states, the histological findings (follicular hyperplasia), anemia, chronic lymphadenopathy not decreasing, with excessive amounts of lymphocytes may confirm the diagnosis", that doesn't mention the monocytosis etc.
Still, the type of ALPS called ALPS-FAS does have that. But the biopsy would not only have the enlarged node follicles but also enlarged paracortex -- which latter your son didn't have.
So ALPS is close but what you probably really want them to look at is NRAS-associated RALD (NRAS-associated autoimmune leukoproliferative disorder), which is similar but has a somewhat different cause and treatment.
Now listen to this: an NRAS defect is also a cause of neuroblastoma! So there's a strong genetic clue. Didn't the rheumy or the consultants know about the neuroblastoma Fx? (This is not the same gene as what you mention above.)
Fx = Family History
But NRAS-RALD usually has an enlarged spleen. So tends against, a bit.
Hopefully your rheumy can talk to Drs. João Oliveira and/or Michael Lenardo at NIH.
http://www.pnas.org/content/104/21/8953
"NRAS mutation causes a human autoimmune lymphoproliferative syndrome"
Good, that brings things right back to my first reply to you, "His CBC seems very unusual, enough to point to something besides cancer." The unusual aspect was monocytosis and granulocytosis (the eosinophils and basophils).
But when the rheumy says "...Autoimmune Lymphoproliferative Disorder. She states, the histological findings (follicular hyperplasia), anemia, chronic lymphadenopathy not decreasing, with excessive amounts of lymphocytes may confirm the diagnosis", that doesn't mention the monocytosis etc.
Still, the type of ALPS called ALPS-FAS does have that. But the biopsy would not only have the enlarged node follicles but also enlarged paracortex -- which latter your son didn't have.
So ALPS is close but what you probably really want them to look at is NRAS-associated RALD (NRAS-associated autoimmune leukoproliferative disorder), which is similar but has a somewhat different cause and treatment.
Now listen to this: an NRAS defect is also a cause of neuroblastoma! So there's a strong genetic clue. Didn't the rheumy or the consultants know about the neuroblastoma Fx? (This is not the same gene as what you mention above.)
Fx = Family History
But NRAS-RALD usually has an enlarged spleen. So tends against, a bit.
Hopefully your rheumy can talk to Drs. João Oliveira and/or Michael Lenardo at NIH.
http://www.pnas.org/content/104/21/8953
"NRAS mutation causes a human autoimmune lymphoproliferative syndrome"
COMMUNITY LEADER
I have an idea that looks like it very well could be the Dx, and it relates to the Fx of neuroblastoma, but first: hasn't he ever had enlarged spleen?
Also, is there any Fx of melanoma?
Also, is there any Fx of melanoma?
1 Comments
He's never had an enlarged spleen. I'm not sure what Fx means, but there's no evidence of melanoma. His brother is in remission from neuroblastoma but tested negative for the genetic marker for "familial neuroblastoma".
COMMUNITY LEADER
So then, as predicted you've gotten the good news that it's not lymphoma. What remains is that it's likely to be some unusual immune condition. Those unfortunately can often take a long time to diagnose.
The rheumy can be more aggressive in looking for something rare like that since cancer is effectively ruled out.
In the meantime, you can try to be sure that there's not some environmental trigger, even a food.
The rheumy can be more aggressive in looking for something rare like that since cancer is effectively ruled out.
In the meantime, you can try to be sure that there's not some environmental trigger, even a food.
1 Comments
I met with him rheumatologist, and they're trying a trial run of colchicine to see if it helps with his fevers and night sweats... if it doesn't, then she's been talking to me about Autoimmune Lymphoproliferative Disorder. She states, the histological findings (follicular hyperplasia), anemia, chronic lymphadenopathy not decreasing, with excessive amounts of lymphocytes may confirm the diagnosis. She's been conferring with colleagues from around the US about my sons case.
If it is ALPS, she is saying that he will need to be checked regularly for lymphoma, that he's at a very increased risk of developing it with this condition.
If it is ALPS, she is saying that he will need to be checked regularly for lymphoma, that he's at a very increased risk of developing it with this condition.
COMMUNITY LEADER
I'm glad to be of help.
I hadn't heard that before about the autolysis/formalin, and I'd bet that happens rarely. Your guess that it was a foulup seems very reasonable.
I don't know if that would affect the further lab analysis of the biopsy tissue. My speculation is that it won't if it's diffuse... and that there isn't some focal area that all died where the T-cells are expected to be. the T-cells should be expected to usually be mainly in a certain area of a node. Just as the B-cells would probably mainly be in another area of a node.
I'd also want the onc, after eliminating cancer, to say what the real cause might be of all the symptoms. Or even get the onc to say so tomorrow, to set your mind at ease while waiting for any more testing to be done. You could ask for guesses.
I hadn't heard that before about the autolysis/formalin, and I'd bet that happens rarely. Your guess that it was a foulup seems very reasonable.
I don't know if that would affect the further lab analysis of the biopsy tissue. My speculation is that it won't if it's diffuse... and that there isn't some focal area that all died where the T-cells are expected to be. the T-cells should be expected to usually be mainly in a certain area of a node. Just as the B-cells would probably mainly be in another area of a node.
I'd also want the onc, after eliminating cancer, to say what the real cause might be of all the symptoms. Or even get the onc to say so tomorrow, to set your mind at ease while waiting for any more testing to be done. You could ask for guesses.
3 Comments
The oncologist was of NO help at all what so ever. He took one look at my child and said "Clearly something's wrong with him, but from an oncologists standpoint, I don't think it's lymphoma."
I asked him what he thought it could be, and he told me he didn't know and that he could direct me to a dr who could help me.
I met with his pediatrician yesterday, and he thinks more tests need to be ran, but wants me to follow up with his rheumatologist first. He's considering sending us to a different pediatric oncologist.
My son's symptoms haven't improved. His nodes are getting bigger - not by a lot - but enough to notice. He has had drenching night sweats for weeks with low grade fever. I don't know how on top of this I need to be. I feel as though we've exhausted all of our options with all of the tests that have been ran, and numerous peds are telling us to watch and wait...
I asked him what he thought it could be, and he told me he didn't know and that he could direct me to a dr who could help me.
I met with his pediatrician yesterday, and he thinks more tests need to be ran, but wants me to follow up with his rheumatologist first. He's considering sending us to a different pediatric oncologist.
My son's symptoms haven't improved. His nodes are getting bigger - not by a lot - but enough to notice. He has had drenching night sweats for weeks with low grade fever. I don't know how on top of this I need to be. I feel as though we've exhausted all of our options with all of the tests that have been ran, and numerous peds are telling us to watch and wait...
That second sentence is meant to say "He wouldn't direct me to a dr that could help"
Also, his pediatrician ordered another CBC but to be manually done with additional smears to make sure no blasts were missed. But, won't have those back for a few days.
COMMUNITY LEADER
Congratulations, that seems to rule out non-Hodgkins Lymphoma (the B-cells are normal, there are just lots of them) and also rules out Hodgkins Lymphoma (no Reed Sternberg cells found).
B-cells are the most numerous type of lymphocytes. The other, less common type, are the T-cells. The T-cells do a lot of signalling which tells other immune cells what to do, such as to proliferate.
So the report suggests that very advanced laboratory tests be done on the T-cells to see if they give a clue as to what is happening. That can include looking at the genes in the T-cells. I imagine that's being done, but can take time.
Kudos to you for getting the detailed path report done. That seems to rule out a lot and is a good result for that reason. There are no clues gotten from the biopsy, which is good; but the mystery still remains. There's no particular reason at this point to think that something very bad will be discovered. Let me know what happens next.
("immunophenotypic" means they examined the surface of the B-cells and found nothing that points to cancer)
B-cells are the most numerous type of lymphocytes. The other, less common type, are the T-cells. The T-cells do a lot of signalling which tells other immune cells what to do, such as to proliferate.
So the report suggests that very advanced laboratory tests be done on the T-cells to see if they give a clue as to what is happening. That can include looking at the genes in the T-cells. I imagine that's being done, but can take time.
Kudos to you for getting the detailed path report done. That seems to rule out a lot and is a good result for that reason. There are no clues gotten from the biopsy, which is good; but the mystery still remains. There's no particular reason at this point to think that something very bad will be discovered. Let me know what happens next.
("immunophenotypic" means they examined the surface of the B-cells and found nothing that points to cancer)
1 Comments
Thanks! We have a follow up tomorrow with a pediatric oncologist which his pediatrician referred us to at UCLA. He wants us to get the all clear through them.
One question though... I noticed the comments on the Pathology report states: "The lymph node biopsy shows significant autolytic effect that is likely secondary to delayed formalin fixation"
Does that mean a significant amount of cells died due to the surgeon not storing it properly before sending to pathology?
Will that skew the diagnosis/findings?
One question though... I noticed the comments on the Pathology report states: "The lymph node biopsy shows significant autolytic effect that is likely secondary to delayed formalin fixation"
Does that mean a significant amount of cells died due to the surgeon not storing it properly before sending to pathology?
Will that skew the diagnosis/findings?
COMMUNITY LEADER
Okay, it seems very good they will look for pathogens. But why not also for granulomas? There are mystery types with no known pathogen.
As to why the CT didn't see enlarged nodes, I don't have a guess. But it seems moot at least for now with the biopsy being done. I'd also be very wary of any more radiation, and question why the CT was even done in a 4 yr old seeing as how the biopsy will be done.
As to why the CT didn't see enlarged nodes, I don't have a guess. But it seems moot at least for now with the biopsy being done. I'd also be very wary of any more radiation, and question why the CT was even done in a 4 yr old seeing as how the biopsy will be done.
4 Comments
...and also quantifying the extent of fibrosis in the excised node. Let's say that some infection has been defeated or contained, You'd still want to know why the nodes don't go down, instead of having years of worry. Fibrosis can take a long time to go away, if ever.
Let me know how this turns out, okay?
When we meet with the ENT that'll be doing his biopsy, I'm going to ask her to request that the pathologist look for granulomas as well. His pediatrician stated the CT on the neck & chest was specifically to point out which node needed to be biopsied. But, since the CT didn't pick any of that up, they'll be biopsing the largest node that was picked up on the ultrasound.. I'll keep you posted on what turns up.
Thanks for all your input!
Thanks for all your input!
His path report came back:
-Reactive follicular hyperplasia
-no granulomas
-no necrosis
-no immunophenotypic evidence of lymphoproliferative disease
-B cells are largely confirmed to follicles - No diagnostic reed sternberf or variant like cells identified.
Molecular diagnostic studies may be required to establish the diagnosis of certain types of T cell lymphoproliferative disease. Correlation with clinical and morphological findings is recommended.
What does his mean? His surgeon didn't take the time to explain this to me.
-Reactive follicular hyperplasia
-no granulomas
-no necrosis
-no immunophenotypic evidence of lymphoproliferative disease
-B cells are largely confirmed to follicles - No diagnostic reed sternberf or variant like cells identified.
Molecular diagnostic studies may be required to establish the diagnosis of certain types of T cell lymphoproliferative disease. Correlation with clinical and morphological findings is recommended.
What does his mean? His surgeon didn't take the time to explain this to me.
COMMUNITY LEADER
Was the CT done in the same place that you can feel the enlarged nodes?
I would think that the biopsy is a good idea *if* they also look for immune cells and whatever else might be causing his condition. If they only look for cancer and find none then that is a wasted opportunity. E.g, are there a lot of eosinophils in the node? Are there any detectable pathogens in the node? Giant cells or lots of fibrosis?
I would think that the biopsy is a good idea *if* they also look for immune cells and whatever else might be causing his condition. If they only look for cancer and find none then that is a wasted opportunity. E.g, are there a lot of eosinophils in the node? Are there any detectable pathogens in the node? Giant cells or lots of fibrosis?
2 Comments
The ct was of the neck and chest. The largest lymph node is on his neck, so I'm not sure how it wasn't seen. His dr put on the referral for the biopsy to look for viral, bacterial, fungal cultures along with AFB culture - TB.
Also, his most recent labs came back. His WBC was normal. Red & hemoglobin a little low, but we already new about his anemia. His absolutes went back to normal, but now his lymphocytes are high, and neutrophils are low...
COMMUNITY LEADER
My sheer guess is that the anemia is not an important clue -- it's just a minor side effect. It might simply be because he's got gut inflammation and is not absorbing iron.
Regardless, in theory it would be because (1) RBCs are not being manufactured enough or (2) that they are somehow being destroyed by the immune system - or by a virus. Or (3) lost via bleeding. The docs would probably have picked up on anything dangerous if it existed.
But if he's not badly out of breath then it's maybe not significant.
Regardless, in theory it would be because (1) RBCs are not being manufactured enough or (2) that they are somehow being destroyed by the immune system - or by a virus. Or (3) lost via bleeding. The docs would probably have picked up on anything dangerous if it existed.
But if he's not badly out of breath then it's maybe not significant.
1 Comments
Last week we had a CT with contrast, and the notes from the radiologist state: No evidence of lymphadenopathy. That everything looks normal.
BUT, we can still physically see and feel that his swollen lymph nodes haven't gone down at all. Should I request a second review of his scans? His rheumatologist still thinks we need to go forward with a lymph node biopsy.
BUT, we can still physically see and feel that his swollen lymph nodes haven't gone down at all. Should I request a second review of his scans? His rheumatologist still thinks we need to go forward with a lymph node biopsy.
COMMUNITY LEADER
"...in the past - he was dealing with frequent fever/infections"
So there it is, no particular reason to fear lymphoma then since at this time there is a better alternate diagnosis..
I suppose they've also looked into immunodeficiency disorders and everything else that might possibly apply. But the immune system is mysterious and nobody on the planet understands it all.
"an infectious disease specialist who has ruled out anything infectious."
Well, we don't know all infectious agents so they can't all be ruled out. Especially viruses. Also, there are parasites in the U.S.
https://www.cdc.gov/media/releases/2014/p0508-npi.html
You can look up a little about Eosinophilic Disorders, just as a way to see how strange things can be with immune signalling gone awry.
I would think very hard about anything that happened before he got sick. Be a Sherlock. A doc can't spend the time thinking it out like you can.
I'd also really lobby for the biopsy pathology to not be limited only to excluding lymphoma.
So there it is, no particular reason to fear lymphoma then since at this time there is a better alternate diagnosis..
I suppose they've also looked into immunodeficiency disorders and everything else that might possibly apply. But the immune system is mysterious and nobody on the planet understands it all.
"an infectious disease specialist who has ruled out anything infectious."
Well, we don't know all infectious agents so they can't all be ruled out. Especially viruses. Also, there are parasites in the U.S.
https://www.cdc.gov/media/releases/2014/p0508-npi.html
You can look up a little about Eosinophilic Disorders, just as a way to see how strange things can be with immune signalling gone awry.
I would think very hard about anything that happened before he got sick. Be a Sherlock. A doc can't spend the time thinking it out like you can.
I'd also really lobby for the biopsy pathology to not be limited only to excluding lymphoma.
1 Comments
That's reassuring. Not knowing what's going on with my kid is what is driving me crazy. Does the anemia send any red flags at all? Because that's also worrisome. He eats incredibly healthy, and has never been a picky eater. Plenty of fruits, veggies, yogurts and chicken & steak. So, I don't know how he could possibly be anemic without some other underlying condition.
COMMUNITY LEADER
It's a shame when they do a sono only for size and don't look at the internal architecture. That's if a large node was available near the surface in neck e.g., and they didn't only sono the abdomen.
So then there are only tendencies this way or that. The size of the largest node is concerning but is still within range to be not-cancer -- esp if not growing more. The shape does tend toward not-cancer... oval and flat, not round.
Enlarged nodes in the abdomen together with elevated basophils and eosinophils maybe point to a food allergy. Or maybe there's some autoimmunity or granulomas. These three are more likely if there's a family history of immune conditions, especially overactive immune reactions.
Basophils and eosinophils can each multiply because of very rare cancers but they likely wouldn't *both* do that because of a cancer.
Any chance of unusual parasites?
I'd ask why they don't sono the neck node esp if that's the largest. If they see a fatty hilum then that is a very strong indication of not-cancer. Why just keep looking for extent of enlarged nodes?
My guess is that they'll rule out lymphoma and then have to look for the real cause.
So then there are only tendencies this way or that. The size of the largest node is concerning but is still within range to be not-cancer -- esp if not growing more. The shape does tend toward not-cancer... oval and flat, not round.
Enlarged nodes in the abdomen together with elevated basophils and eosinophils maybe point to a food allergy. Or maybe there's some autoimmunity or granulomas. These three are more likely if there's a family history of immune conditions, especially overactive immune reactions.
Basophils and eosinophils can each multiply because of very rare cancers but they likely wouldn't *both* do that because of a cancer.
Any chance of unusual parasites?
I'd ask why they don't sono the neck node esp if that's the largest. If they see a fatty hilum then that is a very strong indication of not-cancer. Why just keep looking for extent of enlarged nodes?
My guess is that they'll rule out lymphoma and then have to look for the real cause.
1 Comments
The other measurements are 1.5x .7 x .8
1.3 x .6 x 1.0
2.1 x 1.8 x 1.0
Other notes: Multiple Cervical Posterior lateral lymph nodes.
Also, the swollen lymph node under his arm wasn't imaged and that one feels like a marble under his skin. No chance of any parasites, we live in America and he's never been out of the country.
He's seen a rheumatologist who has ruled out Arthritis, Lupus, Genetic fever syndromes, but he continues to see her regularly because - in the past - he was dealing with frequent fever/infections. He also sees an infectious disease specialist who has ruled out anything infectious.
I think that's why we're here now, trying to rule out the different blood cancers.
1.3 x .6 x 1.0
2.1 x 1.8 x 1.0
Other notes: Multiple Cervical Posterior lateral lymph nodes.
Also, the swollen lymph node under his arm wasn't imaged and that one feels like a marble under his skin. No chance of any parasites, we live in America and he's never been out of the country.
He's seen a rheumatologist who has ruled out Arthritis, Lupus, Genetic fever syndromes, but he continues to see her regularly because - in the past - he was dealing with frequent fever/infections. He also sees an infectious disease specialist who has ruled out anything infectious.
I think that's why we're here now, trying to rule out the different blood cancers.
COMMUNITY LEADER
Hi, can you post the ultrasound report? There might be a key word in there which makes all the difference and relegates everything else to being of secondary importance.
His CBC seems very unusual, enough to point to something besides cancer.
His CBC seems very unusual, enough to point to something besides cancer.
1 Comments
The ultrasound report only has the measurements of his nodes. The radiologists conclusions state: Recommend CT and/or MRI for further investigation. Considering lymphoproliferative Disorder
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