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H/O RC > Cytogenetics/Mutations > Flashcards

Cytogenetics/Mutations Flashcards

1
Q

t(12;21)

A

ETV6-RUNX1

Favourable cyto B-ALL

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2
Q

t(9;22)

A

BCR-ABL
Philadelphia Chromosome

Ph+ ALL, CML

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3
Q

t(17;19)

A

TCF3-HLF
very rare (<1%) B-ALL, very unfavourable
DIC and HyperCa

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4
Q

t(4;11)
t(11;19)

A

KMT2A-MLLT2 (50%)
KMT2A-MLLT2 (20%)

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5
Q

t(15;17)

A

PML-RARA
APML

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6
Q

t(8;21)

A

AML1-ETO (RUNX1-RUNX1T1)
AML favourable

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7
Q

CBFA2T3-GLIS2

A

RAM phenotype AML

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8
Q

FVL mutation

A

G1691A (APC resistance)

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9
Q

Prothrombin gene mutation

A

G20210A

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10
Q

Dx?
ankyrin, Band 3, b spectrin

A

HS (aut dom)

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11
Q

Dx?
a spectrin, protein 4.2

A

HS (aut rec)

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12
Q

Dx?
Spectrin or band 4.1

A

HE
aut dom
horizontal interactions

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13
Q

Dx?
stomatin or band 7.2 mutations

A

overhydrated hereditary stomatocytosis
aut dom

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14
Q

Dx?
PIEZO1 or KCNN4

A

Xerocytosis (hereditary stomatocytosis)
aut dom

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15
Q

Dx?
PIG-A gene (GP1 protein)

A

PNH

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16
Q

Dx?
TMPRSS6 mutation

A

IRIDA (iron refractory IDA)
hepcidin upregulation

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17
Q

t(12;15)

A

ETV-NTRK3
congenital mesoblastic nephroma
larotrectinib

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18
Q

ETV-NTRK3

A

t(12;15)
congenital mesoblastic nephroma
larotrectinib

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19
Q

LOH 1p and 16q

A

WT poor px features

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20
Q

HAX1

A

Kostmann disease (congenital neutropenia)

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21
Q

LYST (CHS1 gene)

A

Chediak-Higashi

  • albanism
  • immunodeficiency
    +-bleeding, neuro degeneration

giant lysosomes in granulocytes

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22
Q

WAS gain of function

A

X linked neutropenia

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23
Q

CXCR4 mutation

A

WHIM: warts, hypogammaglobulinemia, infections, myelokathexis (retention of myeloid cells in bone marrow)

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24
Q

ELANE

A

severe congenital neutropenia
cyclic neutropenia

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25
Q

t(8;14)
t(2;8)
t(8;22)

A

Burkitt Lymphoma
MYC amplification

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26
Q

Burkitt lymphoma translocations

A

t(8;14) -80%
t(2;8) - 15%
t(8;22) - 5%

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27
Q

t(2;5)
t(1;2)

A

ALK-NPM
ALK-TPM3

ALCL

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28
Q

ALCL

A

t(2;5) ALK-NPM
t(1;2) ALK-TPM3

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29
Q

GpIb-IX-V = CD42

A

Bernard Soulier Syndrome

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30
Q

GpIIb-IIIa = CD41

A

Glanzmann’s thrombasthenia

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31
Q

CSF3R

A

GCSF receptor
Primary neutrophilia

32
Q

MHY9 mutation

A

May Hegglin anomaly
inherited macrothrombocytopenias
Dohle bodies

renal failure, SNHL, cataracts

33
Q

GATA1 mutation

A

TMD
X linked macrothrombocytopenia

34
Q

NBEAL2 mutation

A

Gray Platelet syndrome

35
Q

RBM8A mutation

A

TAR

36
Q

c-MPL mutation

A

thrombopoietin receptor
CAMT

37
Q

HOXA-11

A

RUSAT congenital thrombocytopenia

38
Q

GLUT-1

A

infantile hemangioma
20% of angiosarcoma

39
Q

PIK3CA

A

lymphatic anomalies
PIK3CA-related overgrowth spectrum (PROS)

40
Q

RECQL4

A

Rothmund-Thompson
Osteosarcoma predisposition

41
Q

t(11;22)
t(21;22)

A

Ewing Sarcoma

t(11;22) EWSR1-FLI1 (90%)
t(21;22) EWSR1-FUS

42
Q

EWS translocations

A

Ewing Sarcoma
t(11;22) EWSR1-FLI1 (90%)
t(21;22) EWSR1-FUS

Desmoplastic small round cell tumor
t(11;22) EWSR1-WT1

Clear Cell Sarcoma of soft tissue
t(12;22) EWS-ATF1
EWSR1-CREB1

Angiomatoid fibrous histiocytoma
EWSR1-CREB1
EWSR1-ATF1

43
Q

t(2;13)
t(1;13)

A

ARMS

t(2;13) PAX3-FOXO1 60%
t(1;13) PAX7-FOXO1 20%

44
Q

t(X;17)

A

ASPSCR1-TFE3
alveolar soft part sarcoma

45
Q

SMARCB1

A

malignant rhabdoid tumor
epithelioid sarcoma
ATRT

46
Q

t(X;18)

A

SS18-SSX1 / 2 / 4
Synovial sarcoma

47
Q

t(12;15)

A

ETV6-NTRK3
Congenital fibrosarcoma

48
Q

t(2;19)

A

TPM4-ALK
inflammatory myofibroblastic tumor

49
Q

t(1;3)

A

WWTR1-CAMTA1
epithelioid hemangioendothelioma

50
Q

ETV6-NTRK3 fusion

A

infantile fibrosarcoma
congenital mesoblastic nephroma
NTRK-rearranged spindle cell neoplasm
breast cancer
RT induced papillary thyroid carcinoma

51
Q

isochrome 12p

A

GCT type 2 (gonadal, AYA)

52
Q

DCLRE1C

A

Artemis
T-B-NK+ SCID

53
Q

BTK mutation

A

(bruton tyrosine kinase)
XLA

54
Q

SH2D1A mutation

A

XLP1
SAP protein

55
Q

BIRC4 mutation

A

XLP2

56
Q

CHS1 mutation

A

Chediak Higashi

57
Q

STAT3 or DOCK8 deficiency

A

hyper IgE syndrome

58
Q

CD40L deficiency

A

hyper IgM syndrome
X linked

59
Q

BRAF-KIAA1549 fusion

A

pilocytic astrocytoma

also V600E

60
Q

BRAF mutations seen in:

A

pilocytic astrocytoma (BRAF-KIAA1549 and V600E)
craniopharyngioma
LCH (V600E)
LGG
HGG (GBM)
plexiform neurofibroma
Melanoma (V600E)

61
Q

H3K27 mutation
H3K27me3

A

DIPG

HGG

62
Q

IDH1 mutation

A

HGG

63
Q

small round blue cell DDx

A

LEARN NMR:
lymphoma
Ewing
ALL
RMS
NBl
Neuroepithelioma
Medullo
retinoblastoma

ATRT
pineoblastoma
ETMRE (embryonal tumor with multilayered rosettes)

64
Q

loss of INI-1

A

SMARCB1 mutation

malignant rhabdoid tumor
epithelioid sarcoma
ATRT

65
Q

t(8;22) vs t(9;22)

A

t(8;22) Burkitt (8-B)
t(9;22) Ph (9:P)

66
Q

t(Y;14)

A

IGH-CRLF2
Ph-like

67
Q

MYC locus

A

8q24

68
Q

B immunophenotype

A

CD10: common ALL Ag
CD19
CD20 (mature)
CD 22
CD79a

CD45 (hematopoetic)
Immature: HLA-DR, CD34

69
Q

T immunophenotype

A

CD 2-8
CD10 (common ALL Ag)

CD45 (hematopoetic)
Immature: CD1a, CD99

70
Q

Myeloid immunophenotype

A

CD13, 15,
MPO
Lysozyme

CD45 (hematopoetic)
Immature: CD117

71
Q

t(5;14)

A

IL3-IGH
eosinophilic B-ALL

72
Q

Eosinophilic B-ALL mutation

A

t(5;14) IL3-IGH

73
Q

Ph-like classes

A

ABL-like
CRLF2-r (JAK)
Ras activating

74
Q

T-ALL immunophenotype and common mutations

A

+ CD34, 10, TdT
- HLA-DR

TCR-r
del9p (CDKN2A)
NOTCH activating

75
Q

ETP T-ALL immunophenotype

A

+ HLA-DR (compare to T-ALL), CD 34, 117, TdT
- CD 1, 5, 8, 10 (compare to T-ALL)

76
Q

APML immunophenotype

A

+ bright CD33, intense MPO
- CD 10, 34 (not hypogranular subtype), HLA-DR (not hypogranular subtype)

77
Q

HLA-DR negative leukemias

A

T-ALL (not ETP)
AMKL
APML (not hypogranular variant)
RAM phenotype

H/O RC (31 decks)

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