Cytogenetics Flashcards
Which cytogenetic abnormalities have a good prognosis?
t(8;21)
inv (16)
t(15;17)
What are the alternate translocations seen in Acute Promyelocytic Leukemia?
t(11;17)(q23;q21) - partnter is PLZF
t(5;17)- partner is NPM
t(11;17)- partner is NuMA
What is clinically important about the t(11;17)(q23;q21) in APL?
It is resistant to ATRA! (Partner is PLZF)
What is the fusion gene produced in t(15;17)?
PML/RARa
APL Immunophenotype
CD13+, CD33+, CD117+, HLA-DR-, CD34-
M3v(microgranular variant) sometimes CD2+, CD34+
Fusion gene produced in AML t(8;21)
AML1/ETO
Immunophenotype of AML t(8;21)?
Frequent co-expression of CD19 and/or CD56
How is a leukemic proliferation of <20% blasts with a t(8;21) classified?
as AML with t(8;21)-
1/3 of AML-M2 with abnormal karyotype
What is the fusion gene produced by inv(16)?
CBFB-SMMHC -results in disruption of core binding factors needed for normal hematopoiesis
What is the morphology of AML with inv(16)?
AML M4Eo: Acute myelomonocytic leukemia with abnormal eosinophils –> eosinophils with basophilic granules
What genetic abberation occurs in AML t(9;11)(p22q23)?
rearrangement of the MLL gene on 11q23
What are the features of t(9;11)(p22q23)
Monocytic differentiation (must have >20% blasts or myeloid sarcoma to be calssified as AML, if not then MDS)
Kids>Adults
More likely to have extramedullary disease and DIC
What is the gene fusion of t(6;9)(p23q34)?
DEK-NUP214
Waht are the features of t(6;9)(p23q34)?
Basophilia and multilineage dysplasia, pancytopenia
! FTL-ITD is common=poor prognosis!!
What is the gene fusion of inv (3)(q21q26.2)?
RPN1-EVI1
