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AP/CP Boards > Characteristic Genetic Mutations > Flashcards

Characteristic Genetic Mutations Flashcards

1
Q

Odontogenic keratocyst (OKC)

A 
PTCH mut (80%of sporadic and Gorlin-syndrome assc OKCs). 
Gorlin syndrome (AKA nevoid BCC syndrome): OKCs, nevoid BCC, medulloblastoma, skeletal abnormalities, ectopic soft tissue calcs, ovarian fibromas
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2
Q

Amelobalstoma

A

BRAF V600E mut

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3
Q

Pilocytic astrocytoma

A

BRAF-KIAA1549 fusions

A minority will have BRAF V600E mut

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4
Q

Pleomorphic adenoma (mixed tumor)

A

PLAG1 alterations

HMGA2 fusions less commonly seen

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5
Q

Adenoid cystic carcinoma

A

t(6;9) NFIB-MYB or -MYBL1

Less commonly t(8;9)

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6
Q

Secretory carcinoma

FKA Mammary analogue secretory tumor

A

t(12;15) ETV6-NTRK3

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7
Q

Polymorphous low-grade adenocarcinoma

A

PRKD gene rearrangements

Esp PRKD1 E710D hotspot mut

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8
Q

Mucoepidermoid carcinoma

A

t(11;19) MECT1-MAML2 or CRTC1-MAML2

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9
Q

Hyalinizing clear cell carcinoma (AKA clear cell carcinoma of salivary gland)

A

t(12;22) EWSR1-ATF1

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10
Q

Fibrous dysplasia

A

GNAS1 mut

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11
Q

NUT midline carcinoma

A

t(15;19) NUT-BRD4
t(9;15) NUT-BRD3 is less common

Think “bird” going for a nut.

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12
Q

Craniopharyngioma

A

BRAF V600E mut

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13
Q

Malignant melanoma of soft parts (clear-cell sarcoma)

A

t(12;22) EWSR1-ATF1

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14
Q

Nasopharyngeal angiofibroma

A

CTNNB1 mut in 75% (beta-catenin)

- also a/w APC mut and Familial Adenomatous Polyposis

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15
Q

Alveolar rhabdomyosarcoma

A

t(2;13) PAX3-FOXO1 (better prognosis), or

t(1;13) PAX7-FOXO1 (worse prog)

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16
Q

Embryonal rhabdomyosarcoma

A

a/w loss of chr 11

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17
Q

Biphenotypic Sinonasal Sarcoma (BSNS)

A

t(2;4) PAX3-MAML3 fusion

Rarely PAX3-FOX01 or PAX3-NCOA1

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18
Q

Carney complex

A 
PRKAR1A mut (2p16 abnormalities)
- Includes NAME and LAMB syndromes

NAME syndrome:

  • Nevi
  • Atrial myxomas
  • Myxoid neurofibroma
  • Ephelides

LAMB syndrome:

  • Lentigines
  • Atrial myxomas
  • Mucocutaneous myxomas
  • Blue nevi
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19
Q

Alveolar soft part sarcoma

A

t(X;17) TFE3-ASPL fusion

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20
Q

Aneurysmal bone cyst

A

t(16;17) CDH11-USP6 fusion

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21
Q

Angiomatoid fibrous histiocytoma

A

t(12;16) FUS-ATF1 fusion
t(12;22) EWSR1-ATF1 fusion
t(2;22) EWSR1-CREB1 fusion

22
Q

Extraskeletal myxoid chondrosarcoma

A

t(9;22) EWSR1-NR4A3 fusion
t(9;17) TAF2N-NR4A3 fusion
t(9;15) TCF12-NR4A3 fusion
t(3;9) TFG-NR4A3 fusion

23
Q

Clear cell sarcoma

A

t(12;22) EWSR1-ATF1 fusion

t(2;22) EWSR1-CREB1 fusion

24
Q

Desmoplastic small round cell tumor

A

t(11;22) EWSR1-WT1 fusion

25
Q

Dermatofibrosarcoma protuberans

A

Ring form of chromosomes 17 and 22 COL1A1-PDGFB fusion

t(17;22) COL1A1-PDGFB fusion

26
Q

Ewing sarcoma/PNET

A 
t(21;22) EWSR1-ERG fusion
t(2;22) EWSR1-FEV fusion
t(7;22) EWSR1-ETV1 fusion
t(17;22) EWSR1-E1AF fusion
inv(22) EWSR1-ZSG fusion
t(16;21) FUS-ERG fusion
t(19;der)ins.inv(21;22) EWSR1-ERG fusion
t(17;22) EWSR1-ETV4 fusion
t(6;22) EWSR1-POU5F1 fusion
t(1;22) EWSR1-PATZ1 fusion
t(2;22) EWSR!-SP3 fusion
t(20;22) EWSR1-NFATC2 fusion
t(2;16) FUS-FEV fusion
27
Q

Undifferentiated round cell sarcoma (“atypical Ewing sarcoma”)

A

t(4;19)(q35;q13) CIC-DUX4 fusion

28
Q

BCOR-rearranged sarcoma
AKA infantile undifferentiated round cell sarcoma
AKA primitive myxoid mesenchymal tumour of infancy

A

Xp11 BCOR-CCNB3

29
Q

Infantile Fibrosarcoma

A

t(12;15) ETV6-NTRK3 fusion

Trisomies 8, 11, 17, and 20

30
Q

Inflammatory myofibroblastic tumor

A 
t(1;2) TPM3-ALK fusion
t(2;19) TPM4-ALK fusion
t(2;17) CLTC-ALK fusion
t(2;2) RANB2-ALK fusion
t(2;2) ATIC-ALK fusion
t(2;11) CARS-ALK fusion
t(2;4) SEC31L1-ALK fusion
t(2;12) PPFIBP1-ALK fusion
31
Q

Leiomyosarcoma

A

Complex with frequent deletion of 1p

32
Q

Well-differentiated Liposarcoma

A

Ring form of chromosome 12

Amplification of MDM2, CDK4, and others

33
Q

Myxoid/Round cell Liposarcoma

A

t(12;16) FUS-DDIT3 fusion

t(12;22) EWSR1-DDIT3 fusion

34
Q

Low-grade fibromyxoid sarcoma

A

t(7;16) FUS-CREB3L2 fusion

t(11;16) FUS-CREB3L1 fusion

35
Q

Rhabdoid tumor

A

Deletion of 22q

INI1(SMARCB1) inactivation

36
Q

Alveolar Rhabdomyosarcoma

A

t(2;13) PAX3-FOXO1A fusion
t(1;13) double minutes PAX7-FOXO1A fusion
t(2 ;2) PAX3-NCOA1 fusion
t(X;2) PAX3-AFX fusion

37
Q

Embryonal Rhabdomyosarcoma

A

Trisomies 2q, 8 and 20

Loss of heterozygosity at 11p15

38
Q

Solitary fibrous tumor

A

Inversion chromosome 12

NAB2-STAT6

39
Q

Synovial sarcoma

A

t(X;18) SS18-SSX1, SS18-SSX2 or SS18-SSX4 fusion

Monophasic SS is predominantly SS18-SSX1 fusion

40
Q

Acute myelocytic leukemia (2)

A

t(8;21) AML1-RUNX1

Inv(16)

41
Q

Acute promyelocytic leukemia

A

t(15;17) PML-RARA

42
Q

Burkitt lymphoma

A

t(8;14) cMYC-IGH

43
Q

Follicular lymphoma

A

t(14;18) IGH-BCL2

44
Q

Mantle cell lymphoma

A

t(11;14) IGH-BCL1 (CyclinD1)

45
Q

Gastric MALT lymphoma

A

t(11;18) API2-MALT1

46
Q

CLL (5)

A 
Deletion 13q (50%) - intermediate prog
Trisomy 12 (15-20%) - poor prog
Del(11q), del(14q), del(17p) (Less common) - poor prog
47
Q

Intraductal papillary mucinous neoplasm (IPMN)

A
  • KRAS mut (78%)
  • Activating GNAS (58%), highly specific
  • Inactivating RHF43 mut (38%), specific
  • Loss of heterozygosity, often chr 9
48
Q

Follicular thyroid CA

A
  • RAS mut (30-50%)
  • PPARγ-PAX8 (20-30%)
  • TERT promoter mut (20%), aggressive
49
Q

Papillary thyroid CA (PTC)

A
  • BRAF mut
  • RET-PTC
  • RAS
  • NTRK1
50
Q

Medullary thyroid CA

A

RET activating mut

51
Q

Anaplastic thyroid CA

A
  • P53 mut
  • beta-catenin mut
  • RAS mut
  • BRAF mut

AP/CP Boards (3 decks)

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