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Hematology RC Editable > Genetics > Flashcards

Genetics Flashcards

1
Q

Grey platelet syndrome

A

NBEAL2, GFI 1B
AR

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2
Q

Wiskott Aldrich

A

WASP, X-linked
CD43

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3
Q

Bernard Soulier

A

GP1b/V/IX
GP1BB, GP1BA, GP9 genes
AR

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4
Q

Severe Congenital Neutropenia
SCN
Kostmann’s syndrome

A

ELANE

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5
Q

Hermansky Pudlak

A

HPS1, 1:1800 in Puerto Rico
Most are AR

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6
Q

Glanzmann Thrombasthenia

A

ITGA2B or ITGB3
AR

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7
Q

Chediak Higashi Syndrome

A

LYST
lysosomal storage issue, giant lysosomes and granules
AR

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8
Q

Polycythemia Vera

A

JAK2 V617F 95%
Jak2 Exon 12

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9
Q

Essential Thrombocytosis

A

JAK2 50-60%
CALR 30%
MPL 5-10%

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10
Q

Myelofibrosis

A

JAK2 50-60%
CALR 25%
MPL 5-10%

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11
Q

CML
BCR-ABL types

A

210 common
230 more mature neuts
190 ALL mostly

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12
Q

CML additional cytogenetic abnormalities

A

+ 8, 17, 19, 21
-7
i17q
3q26
11q23
Extra Ph+

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13
Q

Genetic predisposition syndromes, with thrombocytopenia

A

RUNX1
ANKRD26
ETV6

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14
Q

macrothrombocytopenias

A

MYH9
BSS
VWD2B
GATA1 [Xlinked]
Paris Trousseau [11q23 del]
Grey platelet

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15
Q

Congenital Amegakaryocytic thrombocytopenia [CAMT]

A

c-MPL gene

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16
Q

Thrombocytopenia absent radii

A

1q21 micerodeletion, RBM8A gene

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17
Q

RUSAT = radioulnar synostosis with amegakaryocytic thrombocytopenia

A

HOXA11 or MECOM
MECOM is AR and risk of myeloid malignancy and BMF

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18
Q

VWF gene and inheritance

A

VWF on 12p

Most Type 1 and 2 are AD
Type 3 AR, 2N AR

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19
Q

Thalassemia genes

A

alpha is 16
(4copies of alpha, 4x4 is 16)
beta is 11

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20
Q

Hb Variants

A

HbS: B chain 6th AA Glu->Val
HbC: Glu -> Lys
HbE: 26th AA Glu->Lys
Hb Lepore: crossover of beta and delta, so beta gene under delta promoter -> less beta -> like beta thal

Beta globin on chromosome 11

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21
Q

BMF syndrome genes

A

Fanconi: FANCA, FANCG, FANCC most AR
Telomeres: DKC1 [XL], TERC, TERT [AD]
GATA2: 3q21 [AD] variable phenotypes, MonoMAC syndrome
SAMD9/SAMD9L: 7q. Similar syndromes to GATA2. Can lose a 7 [del7] MDS or BMF and not be able to detect in heme cells

22
Q

Anemia bone marrow failures

A

Diamond Blackfan: RPS19 [AD]
Congential dyserythropoietic anemia: 3 kinds, 2 is most common and treated with splenectomy, can look like HS

23
Q

HH genetics

A

HFE gene on 6p: c282Y or H63D
HH type 2 [juvenile]: HJV [hemojuvulin] or HAMP [hepcidin]
TRF2 [transferrin receptor]

24
Q

Hereditary Spherocytosis

A

Ankyrin [ANK1], Band 3 [SLC4A1], Spectrin [SPTB, SPTA1]

25
Q

Hereditary Elliptocytosis, HPP

A

Spectrin [SPTB, SPTA], Protein 4.1

26
Q

G6PD

A

X linked
4 Types, class 1 most severe

27
Q

PK deficiency

A

PKLR gene, [AR], amish

28
Q

Myelodysplasia related gene mutations

A

WHO5: SAS BEZUS
ICC: SARS BEZUS
(All end in 1 or 2 if number at end)

SF3B1
ASXL2
RUNX1
SRSF2

BCOR
EZH2
ZRSR2
U2AF1
STAG2

29
Q

AML
MDS related Cytogenetic

A

WHO5
Complex 3+
-5q -7q -17p
-11q -12p -13q
isochron 17q
idic(X)q13

ICC
-5 -7 -17
-12 -20
i(17q)
+8
idic(X)q13

30
Q

AML favourable risk by ELN 2022

A

t(8;21) RUNX1-RUNX1T1
inv(16) or t(16;16) CBFB-MYH11
NPM1 [without FLT3-ITD]
bZIP domain CEBPA

*inv(16) CBFA2B3-GLIS2 = RAM immunophenotype in paediatrics, and its bad

31
Q

AML intermediate risk by ELN2022

A

any FLT3-ITD [unfavourable trumps]
t(9;11) MLLT3-KMT2A [any other t(v;11q23) is unfavourable]
Any other that’s not unfavourable or favourable

32
Q

Other APL translocations
Which are resistant to ATRA?

A

Resistant to ATRA
t(11;17) ZBTB16:RARA
t(17;17) STAT5B:RARA

33
Q

Transient abnormal myelopoiesis [TAM] or myeloid leukemia of down syndrome [ML-DS]

Morphology
Mutation

A

Megakaryoblastic

GATA1 mutation in both, with ML-DS acquire further other driver mutations

34
Q

Leukemia predisposition:
1. Without a syndrome
2. Thrombocytopenia
3. With a syndrome

A
  1. CEBPA [m], DDX41 [m,l], TP53 [m,l]
  2. RUNX1 [m,l], ETV6 [m,l], ANKRD26 [m]
  3. GATA2, SAMD9/SAMD9L, Down Syndrome, BMF syndromes, Noonan’s, Bloom syndrome [biallelic BLM mut]
35
Q

B-ALL recurrent genetic abnormalities
Translocations

A

ICC
t(9;22) BCR-ABL
t(4;11q23) 11q23 KMT2A
t(12;21) ETV6-RUNX1
t(5;14) IL3-IGH
t(1;19) TCF3-PBX1

WHO5
+TCF3-HLF fusion

36
Q

B-ALL other genetic changes
Ploidy and genes

A

ICC
Hyperdiploid
Low Hypodiploid
Near haploid
BCR-ABL-like
iAMP21
IKZF1
MYC rearrangement
…many more
B-ALL, NOS

WHO5
Hyperdiploid
Hypodiploid
iAMP21
BCR-ABL like
+ ETV6-RUNX1 like
“other recurrent genetic abnormalities’

37
Q

Good genetics in B-ALL?

A

Hyperdiploid
t(12;21) ETV6-RUNX1 [mostly kids age 2-10]
DUX4 rearrangements

38
Q

Bad genetics in B-ALL

A

Hypodiploid
near haploid [24-31] worse
low hypo diploid [32-39] often TP53, 50% have germline TP53 [li fraumeni]
iAMP21 bad [get higher RUNX1]
11q23 KMT2A
TCF3 rearrangements [1;19] or [17;19]
IKZF1 - Ikaros or Ikaros-plus

39
Q

T-ALL genetic abnormalities
Which are prognostic?

A

ICC
ETP-ALL with BCL11b mutation
ETP-ALL NOS
T-ALL, NOS

WHO5
T-ALL, NOS
ETP-ALL

Good:
Notch overexpression
HOX11A over expression
c-MYC rearrangements?

BAD: ETP-ALL

40
Q

Is NK cell ALL a thing?

A

*NK cell ALL is now provisional entity in ICC
*NK cell ALL is fully removed from WHO5

41
Q

Mature B cell ALL/Burkitts lymphoma/leukemia
Translocations

A

Chromosome 8 (c-MYC)

(8;14) MYC-IGH [most common]
(2;8) MYC-IGK [kappa]
(8;22) MYC-IGL [lambda]

42
Q

B-ALL common in kids?
<1 yo and bad?
2-10 yo and good?

A

t(v;11q23) KMT2A rearranged = bad
50% of infants <1yo

t(12;21) ETV6-RUNX1 = good
Age 2-10 usually

43
Q

Common other genes seen in MPN

A

TET2, ASXL1, DNMT3A, EZH2, IDH1, IDH2, SRSF2, U2AF1
Some MDS-associated, plus IDH, TET2

44
Q

Genes in hereditary erythrocytosis

A

EPOR - EPO receptor
Oxygen sensing issues: VHL, HIF2alpha

45
Q

Systemic Mastocytosis gene common

A

KIT D816V
activates KIT
90% of SM are +
Gives imatinib resistance
Can use Avapritinib [KIT inhibitor] or Midostaurin

46
Q

Chronic Neutrophilic Leukemia [CNL] gene

A

CSF3R mutation
If +, get a point in diagnostic criteria and WBC only >13 for dx, is >25 if not CSF3R

47
Q

Fusion driven hypereosinophilias
Myeloid/lymphoid neoplasms with tyrosine kinase gene fusions [TKGRs]
6

A

*PDGFRA [-FIP1L1]
*PDGFRB [-ETV6 or -FIP1L1]
FGFR1 rearrangement [not imatinib, maybe ponatinib or pemigatinib]
PCM1-JAK2
FLT3 fusions
*ABL1 fusions

*imatinib

48
Q

ALL with high eosinophils?

A

t[5;14]

49
Q

Neutrophil function disorders and gene/pathophys

A
  1. Chronic Granulomatous Disease - NADPH oxidase issue [NOX2]
  2. Chediak Higashi - LYST gene, lysosome issues
  3. Leukocyte Adhesion deficiency: can’t adhere to endothelium and migrate, or can’t phagocytose. Type 1: B2 integrin CD18 low, type 3 bleeds FERMT3
  4. MPO deficiency: in primary granules for microbe killing. Most asymptomatic, maybe more thrush
  5. High IgE/Job’s, STAT3 mutation, neutrophil chemotaxis issue
50
Q
A
51
Q

BRAF V600E mutation

A

Hairy cell leukemia
50% of Erdheim Chester disease

BRAF inhibitor = Vemurafenib

52
Q

Genetic HLH

What inherited conditions result in HLH at end?

Most common trigger?

A

Perforin gene mutation [PRF1]

Immunodeficiencies like chediak higashi, grisellli, X-linked lymphoproliferative syndrome

EBV trigger in many genetic and acquired cases
EBV associated T cell lymphoma prone to HLH

Hematology RC Editable (28 decks)

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