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Genetics - ABIM
Genetic abnormalities
Question | Answer |
---|---|
APC gene | on 5q chromosome, mutation in familial adenomatous polyposis |
5q gene deletion | seen in MDS - 12 year prognosis, give lanalidomide; if in AML, this would be a poor prognosis and if young pt, should get allogenic BMT |
5q gene mutation | APC gene in FAP |
what mutation do you see with APML which is a good prognostic factor? | t(15,17) |
RET protooncogne | Medullary thyroid cancer |
BRAF | papillary thyroid cancer and hairy cell leukemia |
RAS gene | follicular thyroid cancer |
t(15,17) | acute promyelocytic leukemia, good prognosis |
t(4,11) | ALL |
t(14,18) | follicular small lymphotic lymphoma |
cMYC gene | Burkitt's lymphoma |
t(8,14) | Burkitt's |
t(11,14) | mantle cell lymphoma |
17p13 deletion | TP 53 - if present is a bad prognostic marker for CLL |
t(9,22) | CML |
BCR/ABL fusion protein | CML |
B2 microglobulin | tested in CLL, if >3.5 then only 1 year left |
CD20 | B-cell |
JAK2 mutation | found in 95% of patients with polycythemia vera and 50% to 60% of patients with essential thrombocythemia and primary myelofibrosis |
JAK2 V617F - when should you order it? | present in 97% with PV and in 50% of those with essential thrombocythemia and should be measured in all patients with Budd-Chiari syndrome. Positive findings indicate a myeloproliferative disorder and suggest the need for cytoreductive therapy. |
t(8,21), what disease, what is the prognosis, what treatment | AML Younger patients with favorable-risk cytogenetics (t(8;21), inv(16)) should receive high-dose cytarabine as consolidation therapy |
CASR | benign familial hypocalciuric hypercalcemia |