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AMP Molecular in my Pocket > Myeloid > Flashcards

Myeloid Flashcards

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1
Q

translocation for APL

A

APL PML::RARA t(15;17)(q13.4;q21.2)

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2
Q

APL translocations resistant to ATRA/AsO3

A

‐ STAT5B::RARA or STAT3::RARA; t(17;17)(q21.2;q21.2),
inv(17), del(17)
- ZBTB16::RARA; t(11;17)(q23.2;q21.2)

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3
Q

Translocation for AML with RUNX1::RUNX1T1

A

AML with RUNX1::RUNX1T1 t(8;21)(q22;q22.1)

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4
Q

Prognosis for AML with RUNX1::RUNX1T1 fusion; t(8;21)(q22;q22.1)?

A

Good

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5
Q

Cytologic features of AML with RUNX1::RUNX1T1 fusion; t(8;21)(q22;q22.1)

A

eosinophilic globules
basophilic border, salmon-colored cell
long, thin Auer rods
Pseudo-Chediak Higashi neutrophils

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6
Q

Cytologic features of APL PML::RARA t(15;17)(q13.4;q21.2)

A

coin on coin nuclear morphology, bilobed
Auer rods
hypergranular, hypogranular, microgranular

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7
Q

Cytogenetic features of AML with RUNX1::RUNX1T1 fusion; t(8;21)(q22;q22.1)

A

≥ 70% have additional karyotypic abnormality: ‐X, del(9q)

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8
Q

Worse prognosis mutation and IHC expression for AML with RUNX1::RUNX1T1 fusion; t(8;21)(q22;q22.1)

A

KIT mutation
CD56
-ASXL1/2, KRAS and NRAS may also be seen

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9
Q

Translocation for AML with CBFB::MYH11 fusion

A

AML with CBFB::MYH11 fusion inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

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10
Q

Prognosis for AML with CBFB::MYH11 fusion inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

A

Good prognosis

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11
Q

Cytologic features for AML with CBFB::MYH11 fusion inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

A

coalescing basophilic granules
peripheral basophilic granules
abundant eosinophils

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12
Q

Additional molecular features for features for AML with CBFB::MYH11 fusion inv(16)(p13.1q22) or t(16;16)(p13.1;q22) and which make worse prognosis?

A

*KIT mutations (exons 8 and 17 - 30-40% cases) - worse prognosis
*FLT3 worse prognosis
Secondary cytogenetic abnormalitiesinclude +22 and +8
(each occurring in 10‐15% of cases), del(7q) and +21 (in
5%)
NRAS (in 45%), KRAS (in 13%)

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13
Q

AML with KMT2A rearrangements has more than 80 fusion partners. Most have a _________ prognosis. Which one has an intermediate prognosis?

A

most poor prognosis
KMT2A::MLLT3; t(9;11)(p21.3;q23.3); Intermediate
prognosis

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14
Q

AML with KMT2A rearrangements have initial high blast counts with ____________ differentiation. In children, , AML with KMT2A::MLLT3 and KMT2A::MLLT10 show _____________differentiation and/or ______ blast counts

A

monocytic
children - megakaryoblastic, or low blast counts

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15
Q

AML with KMT2A rearrangements may have _______ overexpression leading to worse prognosis

A

MECOM

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16
Q

Translocation for AML with DEK::NUP214 fusion

A

AML with DEK::NUP214 fusion t(6;9)(p23;q34.1)
*mostly sole karyotypic abnormality

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17
Q

AML with DEK::NUP214 has blasts with __________ features

A

monocytic

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18
Q

Additional molecular feature common in AML with DEK::NUP214

A

FLT3-ITD
*may benefit from midostaurin or gilterinib

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19
Q

Translocation for AML with MECOM rearrangement

A

AML with MECOM rearrangement inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)

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20
Q

Prognosis of AML with MECOM rearrangement inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)

A

Poor prognosis

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21
Q

Cytologic features of AML with MECOM rearrangement inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)

A

Megakaryocyte dysplasia
multilineage dysplasia

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22
Q

Cytogenetic features of AML with MECOM rearrangement inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)

A

Often associated with ‐7 (>50% of cases),
del(5q) and complex karyotypes

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23
Q

Other associated molecular findings in AML with MECOM rearrangement inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)

A
  • mutations of RAS/receptor tyrosine kinase signaling
    pathways(NRAS, PTPN11, FLT3, KRAS, NF1, CBL, KIT)
    -Other associated mutations: GATA2, RUNX1, SF3B1
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24
Q

Translocation for AML with RBM15::MRTFA fusion

A

AML with RBM15::MRTFA fusion t(1;22)(p13.3;q13.1)

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25
Prognosis of AML with RBM15::MRTFA fusion t(1;22)(p13.3;q13.1)
Poor prognosis
26
Patient population for AML with RBM15::MRTFA fusion t(1;22)(p13.3;q13.1)
children/infants <3 may be congenital
27
Cytologic features of AML with RBM15::MRTFA fusion t(1;22)(p13.3;q13.1)
Megakaryoblastis admixed with undifferentiated
28
Additional cytogenetic features of AML with BCR::ABL1 fusion
*Associated with ‐7, +8 and complex karyotypes * May be associated with NPM1 and FLT3‐ ITD, loss of IKZF1 and CDKN2A and cryptic deletions in IGH and TRG genes (not seen in blast transformation of CML)
29
Prognosis for AML with NUP98 rearrangement (Chr11)
Poor prognosis >30 partners - HOXA9 overexpression
30
Prognosis for AML with NPM1 mutation
Good prognosis
31
Additional molecular findings for AML with NPM1 mutation that make for a worse prognosis
FLT3 ITD DNMT3A
32
Cytologic features for AML with NPM1 mutation
Monocytic features with nuclear cupping 25% have multilineage dysplasia
33
Additional cytogenetic features in AML with NPM1 mutation
- usually normal karyotype del(9q), +8 seen in 5‐15% of cases -Secondary mutationsinclude FLT3, DNMT3A, IDH1/2, KRAS, NRAS - upregulation HOX gene
34
Prognosis for AML with mutated TP53
Very poor prognosis - usually complex karyotype any VAF >/= 10%
35
Cytologic features of AML with mutated TP53
pure erythroid leukemia
36
AML with CEBPA mutation on chromosome _________
Chr19
37
Prognosis for AML with CEBPA mutation
Favorable
38
Cytologic features of AML with CEBPA mutation
Nothing distinct
39
Cytogenetic features of AML with CEBPA mutation
70% normal - del(9q) may also be seen - 39% GATA mutations - 5-9% FLT3 ITD
40
AML -myelodysplasia related (MR) has ____ or more cytogenetic abnormalities
3 or more cytogenetic abnormalities Complex karyotype (>3 abnormalities) * del(5q), t(5q) * ‐7, del(7q) * del(11q) * del(12p) * ‐13 or del(13q) * Isochromosome 17q, del(17p) * idic(X)(q13)
41
AML -myelodysplasia related (MR) with defining somatic mutations - what are 8/9?
* ASXL1 * BCOR * EZH2 * SF3B1 * SRSF2 * STAG2 * U2AF1 * ZRSR2 * RUNX1 (ICC only)
42
Myeloid/LymphoidNeoplasms with eosinophilia and tyrosine kinase gene fusions (MLN‐TK) defining genetic abnormalities (7 or more)
‐ PDGFRA rearrangement (often del(4)(q12q12); FIP1L1::PDGFRA) ‐ PDGFRB rearrangement (often t(5;12)(q32;p12); ETV6::PDGFRB) ‐ FGFR1 rearrangement ‐ JAK2 rearrangement (often t(8;9)(p22;p24.1);PCM1::JAK2 ‐ FLT3 rearrangement ‐ ETV6::ABL1 fusion (separate from B‐ALL with ETV6::ABL1) and other ETV6 rearrangement (ETV6::FGFR2; ETV6:LYN; ETV6::NTRK3; RANBP2::ALK) ‐ Other MLN‐TK (more is accrued): BCR::RET; FGFR1OP::RET
43
Prognosis for Myeloid neoplasms post cytotoxic therapy (MN‐pCT)
Poor prognosis -Requires a documented history of chemotherapy (e.g. alkylating agents, topoisomerase II inhibitors, antimetabolites, antitubulin agents) or large‐field radiation therapy for an unrelated condition
44
3 Germline predisposition mutations
1. CEBPA (familial AML) biallelic 2. DDX41 3. TP53 (Li-Fraumeni)
45
3 myeloid neoplasms with germline predisposition and pre-existing platelet disorder
‐ Germline RUNX1 P/LP variant (familial platelet disorder with associated myeloid malignancy, FPD‐MM) ‐ Germline ANKRD26 P/LP variant (Thrombocytopenia 2) ‐ Germline ETV6 P/LP variant (Thrombocytopenia 5
46
8 myeloid neoplasms with germline predisposition and potential organ dysfunction
1. Germline GATA2 P/LP variant (GATA2‐ deficiency) 2. Bone marrow failure syndromes ‐ Severe congenital neutropenia (SCN) ‐ Shwachman‐Diamond syndrome (SDS) ‐ Fanconi anemia (FA) 3. Telomere biology disorders 4. RASopathies(Neurofibromatosistype 1, CBL syndrome, Noonan syndrome or Noonan syndrome‐like disorders) 5. Down Syndrome 6. Germline SMAD9 P/LP variant (MIRAGE syndrome) 7. Germline SAMD9L P/LP variant (SAMD9L‐ related ataxia pancytopenia syndrome) 8. biallelic germline BLM P/LP variant (Bloom syndrome)
47
Mutation for chronic neutrophilic leukemia
CSF3R
48
7 genes for chronic eosinophlic leukemia
1.PDGFRA 2. PDGFRB 3. FGFR1 4. ABL1 5. JAK2 6. FLT3
49
Philadelphia chromosome translocation
t(9;22)
50
Give the e_a_ nomenclature for the BCR::ABL1 fusions
p210 fusions ‐ e13a2 (b2a2) and e14a2 (b3a2) Rarely p190fusion ‐ e1a2 p230fusion ‐ e19a2 or fusions involving a3
51
JAK2 V617F mutation is in exon __________
exon 12
52
Other JAK2 exon for PV
exon 14
53
CALR exon ___________ mutations occur in ____% of ET and ______% of PMF
CALR exon 9frameshiftinET(25‐30%)andPMF(30‐35%) *just say 30%
54
MPL mutations ___________ and _________ are associated with ___________% of ET and PMF
W515K S505N 5%
55
CSF3R mutation for CNL
T618I (exon 17)
56
Most common partner for PDGFRA fusion
FIP1LI::PDGFRA cryptic deletion CHIC2
57
Most common partner for PDGFRB fusion
ETV6
58
Most common partner for JAK2 fusion
PCM1::JAK2
59
Most common partner for FGFR1 fusion
ZMYM2::FGFR1
60
Drug for JAK2 fusions/mutations
ruxolitinib
61
5 good prognosis AMLs
Core Binding Factor (CBF) AML 1. t(8;21)(q22;q22); RUNX1::RUNX1T1 2. inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB::MYH11 3. Acute Promyelocytic Leukemia (APL) with t(15;17)(q22;q12); PML::RARA 4. NPM1 (Chr5) mutation without FLT3-ITD 5. AML with in-frame bZIP and smbZIP mutated CEBPA *
62
Intermediate prognosis AML
t(9;11)(p22;q23); MLLT3::KMT2A
63
9 poor prognosis AMLs
1. t(6;9)(p23;q34); DEK::NUP214 2. inv(3)(q21q26.2) or t(3;3)(q21;q26.2); GATA2, MECOM 3. t(1;22)(p13.3;q13.1) RBM15::MRTF1 4. AML with myelodysplasia-related (AML-MR) 5. 11q23 (non t(9;11), many partners, such as t(4;11) and t(11;19) 6. t(9;22) (q34;q11.2 ); BCR::ABL1 with P210 or P190, 7. NUP98 rearrangement: 2nd most common driver gene alteration in relapsed pediatric AML, >30 fusion partners * FLT3-ITD mutation * ~20% AML cases * ASXL1, TP53, RUNX1 mutation
64
MDS very good cytogenetics markers (2)
del(11q) -Y
65
MDS good cytogenetics markers (3)
* Normal * del(5q)*, del(12p)*, del(20q), double including del(5q) * Monosomy 13 or del(13q)*
66
MDS intermediate cytogenetics markers (5)
* del(7q)* * Monosomy 5* * Trisomy 8, trisomy 19 * del(17p) or i(17)(q10)* * Any other single or double independent clones
67
MDS poor cytogenetics markers (2)
* Monosomy 7* * inv(3), t(3;3), del(3q), double including –7/7q-, 3 abnormalities*
68
MDS very poor cytogenetics markers (1)
* Complex (>3 abnormalities)*

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