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UChicago High Yield Board Review > Tumor mutations, translocations > Flashcards

Tumor mutations, translocations Flashcards

1
Q

Follicular lymphoma

A

t(14;18) IGH-BCL2

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2
Q

Mantle cell lymphoma

A

t(11;14) CCND1-IGH

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3
Q

CLL/SLL

A

subset del 13q14.3 - Good prognosis

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4
Q

Burkitt lymphoma

A

t(8;14) MYC-IGHt(8;22) MYC-IGLt(2;8) MYC-IGK

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5
Q

Precursor B-ALL

A

t(4;11) MLL-AF4 (poor prognosis)t(9;22) BCR-ABL (poor prognosis)Hyperdiploidy (good prognosis)t(12;21) ETV6-RUNX1 (good prognosis)

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6
Q

Multiple myeloma

A

Complex karyotype - poor pxt(11;14) CCND1-IGH - good px

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7
Q

ALCL (ALK+)

A

t(2;5) NPM-ALKOther ALK rearrangements

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8
Q

Hepatosplenic T-cell lymphoma

A

Isochromosome 7q

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9
Q

Alveolar soft part sarcoma

A

t(X;17) ASPL-TFE3 *same as in translocation carcinoma of kidney

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10
Q

Angiomatoid fibrous histiocytoma

A

t(12;16) FUS/TLS-ATF1t(12;22) EWS-ATF1t(2;22) EWS-CREB1

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11
Q

Clear cell sarcoma

A

t(12;22) EWS-ATF1t(2;22) EWS-CREB1

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12
Q

DFSP

A

t(17;22) COL1A-PDGFbRing chromosome 17

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13
Q

Endometrial stromal sarcoma (low grade)

A

t(7;17) JAZF1-JJAZ1

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14
Q

Extraskeletal myxoid chondrosarcoma

A

t(9;22) EWS-CHNt(9;17) RBP56-CHN

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15
Q

Ewing sarcoma / PNET

A

t(11;22) EWS-FLI1t(21;22) EWS-ERG

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16
Q

GIST

A

c-Kit mutationPDGFRA mutation (epithelioid)

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17
Q

Inflammatory myofibroblastic tumor

A

t(2;5) NPM-ALKOther ALK rearrangements

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18
Q

Infantile fibrosarcoma

A

t(12;15) ETV6-NTRK3

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19
Q

Desmoplastic small round cell tumor

A

t(11;22) EWS-WT1

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20
Q

Myxoid / round cell liposarcoma

A

t(12;16) FUS-CHOPt(12;22) EWS-CHOP

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21
Q

Well-differentiated liposarcoma

A

Ring chromosome 12 - HMGA2, MDM amplification

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22
Q

Low grade fibromyxoid sarcoma

A

t(7;16) FUS-CREB3L2t(11;16) FUS-CREB3L1

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23
Q

Neuroblastoma

A

Hyperdiploidy (good prognosis)+17q (bad prognosis)N-myc amplification (bad prognosis)

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24
Q

PEComa

A

TFE3 rearrangements or amplification

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25
Q

Alveolar rhabdomyosarcoma

A

t(1;13) PAX7-FKHR (good prognosis)t(2;13) PAX3-FKHR (bad prognosis)

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26
Q

Embryonal rhabdomyosarcoma

A

Loss of 11p15 (as in Beckwith-Wiedeman syndrome)

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27
Q

Extrarenal rhabdoid tumor

A

22q11.2 deletion or mutation - INI-1

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28
Q

Seminoma

A

Isochromosome 12p

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29
Q

Synovial sarcoma

A

t(X;18) SYT-SSX1t(X;18) SYT-SSX2

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30
Q

Medulloblastoma

A

Isochromosome 17q

31
Q

Oligodendroglioma

A

1p/19q deletion (loss of heterozygosity)

32
Q

Atypical teratoid / rhabdoid tumor (AT/RT)

A

22q11.2 deletion or mutation - INI1

33
Q

Retinoblastoma

A

13q14 deletion (Rb)

34
Q

Meningioma

A

Monosomy 22

35
Q

Pilocytic astrocytoma

A

7q34 duplication - BRAF-KIAA1549 fusion

36
Q

Colorectal carcinoma

A

APC (80%)MMR pathway genes (15%)K-RAS (35%)

37
Q

Lung adenocarcinoma

A

K-RASEGFREML4-ALK, RET, ROS

38
Q

Papillary thyroid carcinoma

A

BRAF V600E (tall cell)RET-PTCNTRK1(Ras in follicular variant)

39
Q

Follicular thyroid carcinoma

A

t(2;3) PAX8-PPARyRAS

40
Q

Medullary thyroid carcinoma

41
Q

Clear cell renal cell carcinoma

A

3p deletion - VHL

42
Q

Papillary renal cell carcinoma

A

Trisomy 7, 17Deletion YMET activation mutations

43
Q

Translocation-associated renal cell carcinoma

A

t(X;17) ASPL-TFE3 (positive for TFE3 IHC)t(6;11) Alpha-TFEB (positive for TFEB IHC)

44
Q

Skin melanoma

A

BRAF V600EN-RAS

45
Q

NUT midline carcinoma

A

t(15;19) BRD4-NUTt(9;15) BRD3-NUT

46
Q

Prostate cancer

A

21q22.2-3 deletion TMPRSS2-ERG

47
Q

Mucoepidermoid carcinoma

A

t(11;19) MECT1-MAML2

48
Q

Pleomorphic adenoma

A

PLAG1, HMG2A mutations

49
Q

Secretory carcinoma

A

t(12;15) ETV6-NTRK3

50
Q

Granulosa cell tumor, adult type

A

FOXL2 mutation

51
Q

Biphenotypic sinonasal sarcoma

A

PAX3-MAML3

52
Q

Uveal (and meningeal primary) melanoma

53
Q

Mitochondrial inheritance patterns

A

Classically mother-offspring, but actually can follow any pattern due to contribution of nuclear DNA to mitochondria.

54
Q

Heteroplasmy

A

Uneven distribution of mitochondria in maternal transmission.

55
Q

Trinucleotide repeats - Inheritance patterns

A

Mostly autosomal dominantMinority autosomal recessive (Freidrich ataxia), X-recessive (fragile X - CGG/FMR1)

56
Q

Angelman, Prader-Willi

A

Disorder arising from mutation in non-imprinted parental allele.Angelman: UBE3A gene, maternal mutation (paternal silent)Prader-Willi: “PW genes”, paternal mutation (maternal silent)

57
Q

Blots

A

Southern - DNANorthern - RNAWestern - ProteinNote: Southern blotting is more sensitive than PCR for most applications.

58
Q

PCR variations

A

rtPCR - For RNA amplificationqPCR - Quantitative real-time, for viral loads, mutational burdenNested - Two sets of primers, two amplifications, with intervening wash cycle to purify

59
Q

Isothermal amplification methods

A

TMA: Use reverse transcriptase and RNA pol to cycle between RNA and DNA. Faster than PCR!

60
Q

Karyotype G-banding

A

Stains A-T rich (gene poor) segments

61
Q

Melt curve analysis

A

Identifies differences in G:C content, causing differences in denaturing temperature

62
Q

Lung adenocarcinoma mutations

A

25% K-RAS20% EGFR (in-frame exon 19 deletion, exon 21 L858R, T790M - resistant to 1st-gens)5% ALK/RET/ROS rearrangements (crizotinib)

63
Q

MGMT promoter methylation

A

Seen in CNS tumors, predicts response to alkylating chemotherapy (TMZ, carmustine)

64
Q

MDS - Genetics

A

Favorable: -Y, del(20q), del(11q), del(5q), normal karyotypeUnfavorable: Complex, -7

65
Q

B-ALL genetics

A

Favorable: t(12;21) ETV6-RUNX1, hyperdiploidyUnfavorable: t(9;22), Ph-like, MLL-rearr (usually t(4;11)), hypodiploid, RUNX1 amplification

66
Q

CLL genetics

A

Favorable: -13Unfavorable: -11q, -17p

67
Q

Multiple myeloma genetics

A

Favorable: Hyperdiploidy (usually involves odd chromosomes other than 13)Unfavorable: Hypodiploidy, IGH rearrangements, complex karyotype

68
Q

Abortive aneuplodies

A

Most common: 45,XOMost common trisomy: t16

69
Q

K-RAS mutations

A

Virtually all are missense mutations of codons 12, 13, and 61.

70
Q

Centromeric terminology

A

Acrocentric: Chromosome with centromere near end.Metacentric: Chromosome with central centromere.Submetacentric: Somewhere in between.Paracentric inversion: Does not involve centromere.Pericentric inversion: Does involve centromere.

71
Q

Acral melanoma

72
Q

IDH mutations

A

GAIN OF FUNCTION

73
Q

Chromophobe RCC

A

Combined chromosomal losses: -1, -2, -6, -10, -13, -17

74
Q

BCR-ABL transcripts

A

p190 (minor): Ph-like ALLp210 (major): CMLp230: CNL

UChicago High Yield Board Review (8 decks)

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