``` 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

Characteristic Genetic Mutations Flashcards by Caitlin Nickens

Odontogenic keratocyst (OKC)

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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Amelobalstoma

BRAF V600E mut

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Pilocytic astrocytoma

BRAF-KIAA1549 fusions

A minority will have BRAF V600E mut

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Pleomorphic adenoma (mixed tumor)

PLAG1 alterations

HMGA2 fusions less commonly seen

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Adenoid cystic carcinoma

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

Less commonly t(8;9)

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Secretory carcinoma

FKA Mammary analogue secretory tumor

t(12;15) ETV6-NTRK3

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Polymorphous low-grade adenocarcinoma

PRKD gene rearrangements

Esp PRKD1 E710D hotspot mut

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Mucoepidermoid carcinoma

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

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

t(12;22) EWSR1-ATF1

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Fibrous dysplasia

GNAS1 mut

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NUT midline carcinoma

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

Think “bird” going for a nut.

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Craniopharyngioma

BRAF V600E mut

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Malignant melanoma of soft parts (clear-cell sarcoma)

t(12;22) EWSR1-ATF1

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Nasopharyngeal angiofibroma

CTNNB1 mut in 75% (beta-catenin)

- also a/w APC mut and Familial Adenomatous Polyposis

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Alveolar rhabdomyosarcoma

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

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

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Embryonal rhabdomyosarcoma

a/w loss of chr 11

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Biphenotypic Sinonasal Sarcoma (BSNS)

t(2;4) PAX3-MAML3 fusion

Rarely PAX3-FOX01 or PAX3-NCOA1

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Carney complex

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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Alveolar soft part sarcoma

t(X;17) TFE3-ASPL fusion

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Aneurysmal bone cyst

t(16;17) CDH11-USP6 fusion

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Angiomatoid fibrous histiocytoma

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

Extraskeletal myxoid chondrosarcoma

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

Clear cell sarcoma

t(12;22) EWSR1-ATF1 fusion

t(2;22) EWSR1-CREB1 fusion

Desmoplastic small round cell tumor

t(11;22) EWSR1-WT1 fusion

Dermatofibrosarcoma protuberans

Ring form of chromosomes 17 and 22 COL1A1-PDGFB fusion | t(17;22) COL1A1-PDGFB fusion

Ewing sarcoma/PNET

``` 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 ```

Undifferentiated round cell sarcoma (“atypical Ewing sarcoma”)

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

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

Xp11 BCOR-CCNB3

Infantile Fibrosarcoma

t(12;15) ETV6-NTRK3 fusion | Trisomies 8, 11, 17, and 20

Inflammatory myofibroblastic tumor

``` 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 ```

Leiomyosarcoma

Complex with frequent deletion of 1p

Well-differentiated Liposarcoma

Ring form of chromosome 12 | Amplification of MDM2, CDK4, and others

Myxoid/Round cell Liposarcoma

t(12;16) FUS-DDIT3 fusion | t(12;22) EWSR1-DDIT3 fusion

Low-grade fibromyxoid sarcoma

t(7;16) FUS-CREB3L2 fusion | t(11;16) FUS-CREB3L1 fusion

Rhabdoid tumor

Deletion of 22q | INI1(SMARCB1) inactivation

Alveolar Rhabdomyosarcoma

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

Embryonal Rhabdomyosarcoma

Trisomies 2q, 8 and 20 | Loss of heterozygosity at 11p15

Solitary fibrous tumor

Inversion chromosome 12 | NAB2-STAT6

Synovial sarcoma

t(X;18) SS18-SSX1, SS18-SSX2 or SS18-SSX4 fusion | Monophasic SS is predominantly SS18-SSX1 fusion

Acute myelocytic leukemia (2)

t(8;21) AML1-RUNX1 | Inv(16)

Acute promyelocytic leukemia

t(15;17) PML-RARA

Burkitt lymphoma

t(8;14) cMYC-IGH

Follicular lymphoma

t(14;18) IGH-BCL2

Mantle cell lymphoma

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

Gastric MALT lymphoma

t(11;18) API2-MALT1

CLL (5)

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

Intraductal papillary mucinous neoplasm (IPMN)

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

Follicular thyroid CA

- RAS mut (30-50%) - PPARγ-PAX8 (20-30%) - TERT promoter mut (20%), aggressive

Papillary thyroid CA (PTC)

- BRAF mut - RET-PTC - RAS - NTRK1

Medullary thyroid CA

RET activating mut

Anaplastic thyroid CA

- P53 mut - beta-catenin mut - RAS mut - BRAF mut