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Genetics - ABIM

Genetic abnormalities

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
Created by: christinapham