Cytogenetics Flashcards
(8 cards)
1
Q
Cytogenetic aberrations in MDS
A
del(7q), del(5q), trisomy8, del(17p), del(20q),del(11q), del(12p)
2
Q
RNA splicing
A
SF3B1, SRSF2, U2AF1, ZRSR2, U2AF2
“Splice quartet”
3
Q
DNA methylation
A
TET2, DNMT3A, IDH2, IDH1
TEDDI
4
Q
Chromatin modification
A
ASXL1, EZH2, KDM6A, EED
(ABE)
5
Q
Transcription factors
A
RUNX1, BCOR, ETV6, CUX1, GATA2
(RUN GATA & ETV6 faster)
6
Q
Cohesin complex
A
STAG2, RAD21, SMC3, SMC1A
7
Q
Signaling pathways
A
JAK2, CBL, NRAS, KRAS, FLT3, KIT, PTPN11
8
Q
What’s the mot common somatic mutations in MDS?
A
TET2 - DNA methylation
SF3B1 - RNA splicing
ASXL1 - Chromatin modification
SRSF2 - RNA splicing
DNMT3A - DNA methylation
RUNX1 - Transcription factors
