Cytogenetics 2 Flashcards
6 genes that code for tyrosine kinases that are frequently seen in rearrangements in hematolymphoid neoplasms
ABL1 (9q34) ABL2 (1q25) FLT3(13q12.2) SYK (9q22) JAK2 (9q24) NTRKs (15q25.3)
7 transcription factors commonly mutated in MDS/MPN
CEBPA (19q) NPM1 (5q) WT1 (11p) TET2 (4q) RUNX1 (21q) ASXL1 (20q)
2 most common mutations in JMML
20q
CBL (11q)
what will worsen the favorable prognosis of AML with t(8;21)?
KIT mutation
what type of AML has highest risk of CNS involvemnt
inv(16)
cytogenetic “clue” to presence of inv(6)
+22
variant PML translocation what does not respond to ATRA
t(11;17)
ZBTB16(PLZF)-RARA
variant PML translocation taht does respond to ATRA
t(5;17)
NPM1-RARA
details abot AML with t(9;11)
monocytic/myelomonocytic phenotype
CD34 negative
frequent PAS mutation
AML with basophilia
t(6;9)
DEK-NUP214
with normal karyotype, these abnormalities alone show good prognosis in AML
NPM!
CEBPA
with normal karyotype, these mutations have unfavorable outcome in AML
FLT3
KMT2A (MLL)
other mutation seen in AML with translocations involving core binding factor genes [t(8;21) and inv(16)]
KIT mutation
most common karyotypic finding in blastic plasmacytoid dendritic cell neoplams
complex karyotype
two recurrent genetic abnormalities seen in mixed phenotype acute leukemia
t(9;22)
KMT2A (MLL) rearrangements
additional abnormality in Ph+ALL that gives much worse prognosis
minus 7
Additional cytogenetic abnormalities commonly seen in CML and ALL
minus 8
+Ph
clues to the presence of KMT2A (MLL) rearrangement in ALL
CD10- immunophenotype
high WBC
<1 yo
importance of t(1;19)
seen in ALL
generally poor prognosis
chromosomes preferentially lost in hypodiploid ALL
3,7,15,17
chromosomes preferentially kept in hypodiploid ALL
14, 21, X, Y
near diploid ALL with tetraploidy of 14 and 21 is likely
hypodiploid ALL with endoreduplication
karyotypic clues to the presence of a cryptic t(12;21)
del(16p)
del(11q)
12p rearragements
del(16q)
iAMP21 is what?
amplification of RUNX1 on ch21
unfavorable in B-ALL
