The bcr-abl test was negative, as was the JAK2. That is why they labeled her atypical. There is no genetic basis for the CML therefore she was not put on Gleevec. She is on Hydrea to keep the wbc count down to a more normal level. I think the only thing that led to the CML diagnosis was the extremely high wbc with no sign of infection or other cancer. Mayo did the same blood tests as the hometown doctor, as well as the lab in Iowa City. I would like them to run other tests but havent a clue what to ask for. She had an abcess in her gums/jaw bone that went undiagnosed for more than a year but that was 4 years ago and I wondered if that led to infection around the heart which I read could happen, but I assume they would have checked for that. If you had a case like this that you ruled out everything but CML and called her a one in a million case that is atypical, what would you have checked for before giving it the atypical ruling? I could then ask if those things were checked for. Thank you so much for your response. I really don't know anywhere else to go with these questions.
Hi. It's hard to comment on your mother's case without reading the full report of all the blood tests done. I would like to know from what evidence her hometown doctor based his diagnosis of "atypical CML"? What blood work was done at the Mayo clinic? A definite diagnosis of chronic myelogenous leukemia (CML) is made by demonstrating the existence of the Philadelphia chromosome on cytogenetic studies of the bone marrow cells (harvested by bone marrow biopsy) or by detecting the bcr-abl gene (this is the defective gene responsible for the CML) by means of a test called polymerase chain reaction or PCR. If these two tests were not done, I can't see how a diagnosis of CML can be made.