Somatic Onco- Blood Flashcards
(25 cards)
CML
BCR::ABL t(9;22)(q34;q11)
p190: B-ALL; p210: CML; standard risk
“p190=B-ALL, p210=CML
Imantinib resistance a/w T315I”
Chronic neutrophilic leukemia
CSF3R (T618I)
Polycythemia vera
JAK2 (V617F)
high RBC count
PV best, ET middle, PMF worst
Essential thrombocythemia
JAK2 (V617F) 50-60%
CALR (25-30%)
MPL
PV best, ET middle, PMF worst
Primary Meylofibrosis
CALR (52bp del, most common
JAK2 (V617F)
MPL
PV best, ET middle, PMF worst
Juvenile Myelomonocytic leukemia
RAS genes
noonan kids predisposed, think of same genes
Mastocytosis
KIT (d816V) 90%
MDS genetically defined
5q deletion
SF3B1 SNV
TP53 (Biallelci)
Chronic myelomonocytic (CMML)
TET2, SRSF2, ASXL1 (80-90%)
RUNX1, CBL, K/NRAS in others
NPM1 mutation or MLL rearrangement=Bad, progression to AML
usually a normal karyotype, mutations not suffiecient for diagnosis
MDS/MPN w/ SF3BP1 mutations
SF3B1
Ring sideroblasts >15%
Acute myeloid leumia
PML::RARA (t(15;17)(q22;q21)-good; treatable w/ atra
RUNX1::RUNX1T1 (t(8;21)(q22;q22.1)-RUNX1::RUNX1T1 good; most common in kids
CBFP::MYH11 inv(16)(p13.1q22)-good
DEK::NUP214-bad
RBM15::MRTFA
BCR::ABL t(9;22)
MLL rearrangement (11q23)-bad
MECOM rearragnement
NUP98 rearrangement-bad
NPM1 mutation (25-30%)-a/w FLT3-ITD mutatons; NPM1+/FLT3-= good
CEBPA-good
epigenetic gene SNV-bad
FLT3 (ITD or TKD)-FLT3-ITD bad
AML, myelodysplasia related
5q del
7 del-therapy related MDS/AML; int. prog.
11q del
12p del
13 del
iso17q (or del17p) (loss of TP53)-also seen in neuroblastoma
idic Xq13
epigenetic gene SNV
Down syndrome associated
GATA1 ex2/3 del
the’re all tk rearrangements, only one with rearrangements of these
Mixed meyloid/lymphoid neoplasms
PDGFRA/B rearrangements
FGFR1 rearrangements
JAK2 rearrang.
FLT3 rearrang.
ETV6::ABL1
other TK fusions
B-ALL
Hyperdiploidy (even #) (most common in kids)-kids, more common, good prog. (see hyperdiploidy in kids, think all)
t(12;21) ETV::RUNX1-kids; good prog
MLL rearrangement (11q23)-kids + adults; poor prog
hypodiploidy-rare; poor prog/
t(9:22) BCR::ABL1 (most common adults)-adults; bad prog
IKAROS-kids + adults (more common in adults); poor prog
t(1;19) TCF3::PBX1-kids, good
TP53-poor
C-myc rearrang. (chr8)-bad
IGH rearrang (chr14)-bad
T-ALL
TCRA rearrangements (14q11)
TCRB rearrang. (7q32)
CLL (CD5+)
del(17p)/TP53 mutatons-bad, BTK inhib resistance via missense
del(11q) (ATM)-bad
trisomy 12-standard
del(13q) (most common)-good
IGHV->2% mutation good
Mantle cell (CD5+)
t(14;18)(q32;q21) BCL2::IGH (85%)
1p36 del-good
EZH2-tazemetostat
TNFRSF14-most common in kids
MAP2K1-most common in kids
STAT6
Burkitt lymphoma (CD10+)
Myc rearrang. (8q24)-aggressive (if only myc rearrang. its burkitt)
BCL2/BCL6 rearrang.
Diffuse Large B-cell (CD10+)
Myc rearrang. (8q24)
BCL2/BCL6 rearrang.
if myc+BCL2/6 rearrang. its dlbc
Hairy cell (CD5-/CD10-)
BRAF V600E (80-97%)
Marginal zone (CD5-/CD10-)
trisomy 3
trisomy 18
t(11;18) BIRC3::MALT1
t(14;18) IGH::MALT1
7q del
2p dup, 6p dup, 1p del, 6q del
Lymphoblastic lymphoma/waldenstrom macroglobulinemia (CD5-/CD10-)
MYD88 seq (90%)-responds to ibrutinib; mut myd better response
CXCR4 (40%)
6q del
T-cell lymphoma
TCRA rearrangements (14q11)
TCRB rearrang. (7q32)
ALK rearrange (2p23)-alk + anaplastic large cell lymphoma (ALCL)
DUSP22 rearrang. (6p25)-Alk - ALCL
TP63 rearrang (3q28)-Alk - ALCL
inv 14/t(14;14) TCL1::TRA/D rearrang.-t-prolymphocytic leukemia (T-PLL), very aggressive
epigenetic genes
