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Genetic Disorders Forum
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192055 tn?1263555537

Pheochromocytoma (Cancer)

My mother passed away from pheochromocytoma when I was 2 years old, I am now 20. My mother had pheo for a total of 4 years... she passed away when she was 25.

I know that Pheo is really rare, and both parents have to have the gene to carry it on from what I heard.

1) Silly question but do you think my chances are higher in having the gene since my Mother had Pheo the whole time (and two years prior) to having me?
2) Should I get genetic testing done?
3) What do I tell my doctor if I get the test done?

Thank you!
2 Responses
264002 tn?1193278955
MEDICAL PROFESSIONAL
You have asked some important questions. Pheochromocytomas are rare, catecholamine-secreting tumors arising in the adrenal glands. Recent studies have suggested the frequency of mutations associated with isolated pheochromocytoma is higher than previously estimated. It is estimated that about 20% of pheochromocytomas are due to hereditary causes.

There are 4 different hereditary cancer syndromes (neurofibromatosis 1, multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, SDHB/SDHD) in which pheochromocytoma is found. It may help you to meet with a genetic counselor to take a complete family health history and then discuss your options for genetic testing. There is genetic testing available for all 4 of these hereditary cancer syndromes, but it is important to talk with a genetic counselor about the benefits and limitations of the testing.

In all of these conditions, only one parent needs to have a gene mutation, for the children to be at increased risk. Your chances to have a gene mutation are not increased because your mother had a pheochromocytoma while she was pregnant with you. Having the significant family history of a pheochromocytoma may increase your risk, and it is important to have this evaluated. You can find a genetic counselor in your area using the website of the National Society of Genetic Counselors (NSGC).
787406 tn?1339203183
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