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Path Study-AX 2017 > Translocation > Flashcards

Translocation Flashcards

1
Q

Alveolar soft part sarcoma

A

t(X;17)(p11;q25) TFE3-ASPL fusion

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2
Q

Aneurysmal bone cyst

A

t(16;17)q22;p13) CDH11-USP6 fusion

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3
Q

Extraskeletal myxoid chondrosarcoma

A

t(9;22)(q22;q12)EWSR1-NR4A3 fusion;
t(9;17)(q22;q11)TAF2N-NR4A3 fusion;
t(9;15)(q22;q21)TCF12-NR4A3 fusion;
t(3;9)(q11;q22)TFG-NR4A3 fusion

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4
Q

Clear cell sarcoma

A

t(12;22)(q13;q12) EWSR1-ATF1 fusion

t(2;22)(q33;q12) EWSR1-CREB1 fusion

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5
Q

Desmoplastic small round cell tumor

A

t(11;22)(p13;q12) EWSR1-WT1 fusion

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6
Q

Dermatofibrosarcoma protuberans

DFSP

A

Ring form of chromosomes 17 and 22 COL1A1-PDGFB fusion

t(17;22)(q21;q13) COL1A1-PDGFB fusion

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7
Q

Ewing sarcoma/PNET

A

t(11;22)(q24;q12) EWSR1-FLI1 fusion

t(21;22)(q12;q12) EWSR1-ERG fusion

t(2;22)(q33;q12) EWSR1-FEV fusion

t(7;22)(p22;q12) EWSR1-ETV1 fusion

t(17;22)(q12;q12) EWSR1-E1AF fusion

inv(22)(q12;q12) EWSR1-ZSG fusion

t(16;21)(p11;q22) FUS-ERG fusion t(19;der)ins.inv(21;22) EWSR1-ERG fusion t(17;22)(q12;q12) EWSR1-ETV4 fusion

t(6;22)(p21;q12) EWSR1-POU5F1 fusion

t(1;22)(q36.1;q12) EWSR1-PATZ1 fusion

t(2;22)(q31;q12) EWSR!-SP3 fusion

t(20;22)(q13;q12) EWSR1-NFATC2 fusion

t(2;16)(q35;p11) FUS-FEV fusion

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8
Q

Infantile Fibrosarcoma

A

t(12;15)(p13;q26) ETV6-NTRK3 fusion Trisomies 8, 11, 17, and 20

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9
Q

Inflammatory myofibroblastic tumor

A

t(1;2)(q22;p23) TPM3-ALK fusion

t(2;19)(p23;p13) TPM4-ALK fusion

t(2;17)(p23;q23) CLTC-ALK fusion

t(2;2)(p23;q13) RANB2-ALK fusion

t(2;2)(p23;q35) ATIC-ALK fusion

t(2;11)p23;p15) CARS-ALK fusion

t(2;4)(p23;q21) SEC31L1-ALK fusion

t(2;12)(p23;p12) PPFIBP1-ALK fusion

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10
Q

Leiomyosarcoma

A

Complex with frequent deletion of 1p

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11
Q

Well differentiated liposarcoma

A

Ring form of chromosome 12

Amplification of MDM2, CDK4, and others

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12
Q

Myxoid/Round cell liposarcoma

A

t(12;16)(q13;p11) FUS-DDIT3 (CHOP)fusion

t(12;22)(q13;q12) EWSR1-DDIT3 (CHOP) fusion

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13
Q

Pleomorphic liposarcoma

A

complex

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14
Q

Low-grade fibromyxoid sarcoma

A

t(7;16)(q33;p11) FUS-CREB3L2 fusion

t(11;16)(p11;p11) FUS-CREB3L1 fusion

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15
Q

Malignant peripheral nerve sheath tumor

A

complex

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16
Q

Myxofibrosarcoma (myxoid MFH)

A

complex

17
Q

Rhabdoid tumor

A

Deletion of 22q INI1(SMARCB1) inactivation

18
Q

Alveolar Rhabdomyosarcoma

A

t(2;13)(q35;q14) PAX3-FOXO1A

fusion t(1;13)(p36;q14), double minutes PAX7-FOXO1A fusion

t(2 ;2)(q35 ;p23) PAX3-NCOA1 fusion t(X;2)(q35 ;q13) PAX3-AFX fusion

19
Q

Embryonal Rhabdomyosarcoma

A

Trisomies 2q, 8 and 20

Loss of heterozygosity at 11p15

20
Q

Solitary fibrous tumor

A

Inversion chromosome 12 NAB2-STAT6

21
Q

Synovial sarcoma Monophasic

A

t(X;18)(p11;q11) SS18-SSX1, SS18-SSX2 or SS18-SSX4 fusion

22
Q

Synovial sarcoma Biphasic

A

t(X;18)(p11;q11) Predominantly SS18-SSX1 fusion

23
Q

Chondrosarcoma of bone

A

Complex; IDH1 and IDH2 mutations

24
Q

Prostate cancer

A

ERG-TMPRSS2

25
Q

Adult granulosa cell tumor

A

FOXL2

26
Q

adenoid cystic carcinoma

A

T(6,9) myb-nfib

27
Q

mucoepidermoid carcinoma

A

T(11,19) mect1-maml2

28
Q

mammary analogue secretory carcinoma

A

T (12,15) etv6-ntrk3

29
Q

clear cell hyalinizing carcinoma

A

T(12,22) ewsr1-atf1

30
Q

NUT translocation carcinoma

A

t(15;19). BRD4-NUT

31
Q

Pleomorphic adenoma

A

PLAG1 (c12) or HMGA2 (C8) rearrangement

32
Q

Fibrolamellar HCC

A

DNAJB1-PRKACA

33
Q

Sertoli leydig cell tumor

A

Dicer1

34
Q

pulmonary htn

A

Bmpr2

35
Q

LG endometrial stromal sarcoma

A

T(7;17) jazf1-suz12

36
Q

HG endometrial stromal sarcoma

A

T(10;17) YWHAE-FAM22

37
Q

Nodular fascitis

A

T(17;22) USP6-MYH9

Path Study-AX 2017 (5 decks)

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