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Hematology RC Editable > Genetics > Flashcards

Genetics Flashcards

(52 cards)

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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

Study These Flashcards
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

Study These Flashcards
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

Study These Flashcards
A

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

24
Q

Hereditary Spherocytosis

Study These Flashcards
A

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

25
Hereditary Elliptocytosis, HPP
Spectrin [SPTB, SPTA], Protein 4.1
26
G6PD
X linked 4 Types, class 1 most severe
27
PK deficiency
PKLR gene, [AR], amish
28
Myelodysplasia related gene mutations
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
AML MDS related Cytogenetic
*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
AML favourable risk by ELN 2022
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
AML intermediate risk by ELN2022
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
Other APL translocations Which are resistant to ATRA?
Resistant to ATRA t(11;17) ZBTB16:RARA t(17;17) STAT5B:RARA
33
Transient abnormal myelopoiesis [TAM] or myeloid leukemia of down syndrome [ML-DS] Morphology Mutation
Megakaryoblastic GATA1 mutation in both, with ML-DS acquire further other driver mutations
34
Leukemia predisposition: 1. Without a syndrome 2. Thrombocytopenia 3. With a syndrome
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
B-ALL recurrent genetic abnormalities Translocations
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
B-ALL other genetic changes Ploidy and genes
*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
Good genetics in B-ALL?
Hyperdiploid t(12;21) ETV6-RUNX1 [mostly kids age 2-10] DUX4 rearrangements
38
Bad genetics in B-ALL
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
T-ALL genetic abnormalities Which are prognostic?
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
Is NK cell ALL a thing?
*NK cell ALL is now provisional entity in ICC *NK cell ALL is fully removed from WHO5
41
Mature B cell ALL/Burkitts lymphoma/leukemia Translocations
Chromosome 8 (c-MYC) (8;14) MYC-IGH [most common] (2;8) MYC-IGK [kappa] (8;22) MYC-IGL [lambda]
42
B-ALL common in kids? <1 yo and bad? 2-10 yo and good?
t(v;11q23) KMT2A rearranged = bad 50% of infants <1yo t(12;21) ETV6-RUNX1 = good Age 2-10 usually
43
Common other genes seen in MPN
TET2, ASXL1, DNMT3A, EZH2, IDH1, IDH2, SRSF2, U2AF1 Some MDS-associated, plus IDH, TET2
44
Genes in hereditary erythrocytosis
EPOR - EPO receptor Oxygen sensing issues: VHL, HIF2alpha
45
Systemic Mastocytosis gene common
KIT D816V activates KIT 90% of SM are + Gives imatinib resistance Can use Avapritinib [KIT inhibitor] or Midostaurin
46
Chronic Neutrophilic Leukemia [CNL] gene
CSF3R mutation If +, get a point in diagnostic criteria and WBC only >13 for dx, is >25 if not CSF3R
47
Fusion driven hypereosinophilias Myeloid/lymphoid neoplasms with tyrosine kinase gene fusions [TKGRs] 6
*PDGFRA [-FIP1L1] *PDGFRB [-ETV6 or -FIP1L1] FGFR1 rearrangement [not imatinib, maybe ponatinib or pemigatinib] PCM1-JAK2 FLT3 fusions *ABL1 fusions *imatinib
48
ALL with high eosinophils?
t[5;14]
49
Neutrophil function disorders and gene/pathophys
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
51
BRAF V600E mutation
Hairy cell leukemia 50% of Erdheim Chester disease BRAF inhibitor = Vemurafenib
52
Genetic HLH What inherited conditions result in HLH at end? Most common trigger?
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 (29 decks)

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