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PHOT Boards 2023 > Translocations > Flashcards

Translocations Flashcards

1
Q

t(12;21)

A
  • B-ALL: ETV6 (12) and RUNX1 (21) translocation (aka. TEL-AML1)
  • Accounts for 25% of all B-ALL and associated with a good prognosis
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2
Q

t(9;22)

A
  • B-ALL and CML: BCR (22) and ABL1 (9) translocation
  • Historically dismal outcomes in B-ALL. Intermediate outcomes with TKIs
  • Defining lesion of CML
  • Of note, t(9;22) also translocation of extraskeletal myxoid chondrosarcoma- EWS (22) and CHN (9)
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3
Q

11q23 Fusions

A
  • Infantile ALL and AML commonly M4/M5: KMT2A (11; aka. MLL)
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4
Q

t(8;14)

A
  • Burkitt’s lymphoma/leukemia: cMYC (8) and IGH (14) translocation
  • Found in 80% of Burkitt’s lymphoma
  • Other translocations with the κ light (2) or λ light chain promoter (22) also occur but are less common
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5
Q

t(8;21)

A
  • AML M2: RUNX1 (21) and RUNX1T1 (8) translocation (aka. AML1-ETO)
  • Core Binding Factor-related AML
  • Found most commonly in FAB M2 (AML with maturation)
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6
Q

inv(16)

A
  • AML M4eo: Inversion leads to fusion of CBFB (16) and MYH11 (16)
  • Core Binding Factor-related AML
  • Found most commonly in FAB M4eo (AML with eosinophilia)
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7
Q

t(15;17)

A
  • AML M3: PML (15) and RARa (17) translocation
  • Associated with AML M3 (APML)
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8
Q

t(1;13)

A

ARMS: PAX7 (1) and FOXO1 (13; aka. FKHR) translocation

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9
Q

t(2;13)

A

ARMS: PAX3 (2) and FOXO1 (13; aka. FKHR) translocation

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10
Q

t(11;22)

A

Ewing’s Sarcoma

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11
Q

del(5q)

A
  • MDS/AML: Deletion of 5q
  • Can be seen at the initial presentation in AML with MDS-related changes
  • Therapy-related AML: After exposure to alkylating agents or radiation
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12
Q

del(7q)

A
  • MDS/AML: Deletion of 7q
  • Can be seen at the initial presentation in AML with MDS-related changes
  • Therapy-related AML: After exposure to alkylating agents or radiation
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13
Q

del(X), del(Y)

A
  • Ph-like ALL: Creates a P2RY8-CRLF2 fusion and upregulates CRLF2
  • More common in Hispanic adolescents
  • Of note, CRLF2 is located on both the X and Y chromosome in homologous pseudoautosomal
    regions (PARs)
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14
Q

iAMP(21)

A
  • B-ALL: Internal amp of chr 21 leading to ≥3 copies of RUNX1
  • Accounts for <2% of B-ALL
  • Associated with worse outcomes
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15
Q

t(1;19)

A
  • B-ALL: TCF3 (19) and PBX1 (1) translocation (aka. E2A-PBX1)
  • Accounts for 5% of B-ALL
  • Historically associated with poor prognosis, but now intermediate outcomes on modern protocols with intensified chemotherapy
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16
Q

t(1;22)

A
  • AMKL: RBM15 (1; aka. OTT) and MKL1 (22) translocation
  • Account for 10% of non-Down syndrome AMKL
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17
Q

t(10;11)

A
  • AML: KMT2A (11q23) and AF10 (10)
  • Mostly seen in AML FAB M4/M5 (myelomonocytic/monocytic)
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18
Q

t(11;14)

A
  • T-ALL: TCRA/TCRD (14) and LMO2 (11)
19
Q

t(11;19)

A
  • ALL/AML: KMT2A (11q23) and ENL (19) translocation
  • Accounts for 20% of ALL and AML FAB M4/M5 (myelomonocytic/monocytic)
20
Q

t(14;18)

A
  • Account for >90% of adult follicular lymphoma and 30% of adult DLBCL
  • Virtually absent in pediatric follicular lymphoma and DLBCL
21
Q

t(2;5)

A
  • ALCL: ALK (2) and NPM1 (5) translocation
  • Accounts for 75% of ALK-positive ALCLs (~75%); variant translocations involving ALK
    and other partner genes on chromosomes 1,2, 3, 17, 19, 22, and X also occur.
22
Q

t(2;8)

A
  • Burkitt’s lymphoma/leukemia: cMYC (8) and κ light chain promotor (2) alternate translocation
23
Q

t(4;11)

A
  • Infantile ALL: KMT2A (11q23) and AF4 (4) translocation
  • Accounts for 70% of KMT2A-rearranged infantile ALL
24
Q

t(8;22)

A
  • Burkitt’s lymphoma/leukemia: cMYC (8) and λ light chain promoter (22) alternate translocation
25
Q

t(9;11)

A
  • Infantile ALL: KMT2A (11q23) and AF9 (9)
  • More common in AML FAB M4/M5 (30%) than ALL (10%)
26
Q

t(Y;14)
t(X;14)

A
  • Ph-like ALL: IGH (14) and CRLF2 (X/Y) translocation leads to upregulation of CRLF2
  • More common in Hispanic adolescents
  • Of note, CRLF2 is located on both the X and Y chromosome in homologous pseudoautosomal
    regions (PARs)
27
Q

i(12p)

A
  • Germ cell tumors: Gain of the short arm of chromosome 12, most commonly as an isochromosome 12p[i(12p)]
28
Q

RELA Fusion

A
  • Subtype of supratentorial ependymoma
  • Associated with a poor prognosis
29
Q

Supernumerary Ring Chromosome
12q13-15

A
  • Parosteal osteosarcoma: A low-grade form of osteosarcoma that is treated with resection alone
30
Q

t(12;15)

A
  • Congenital fibrosarcoma and mesoblastic nephroma: ETV6 (12) and NTRK3 (15) translocation
  • Very sensitive to NTRK inhibition (LOXO-101, aka. Larotrectinib)
  • Can also use VAC chemotherapy
  • Of note, the same translocation also found in secretory breast carcinoma
31
Q

t(X;17)

A
  • Alveolar soft part sarcoma: ASPL (17) and TFE3 (X). translocation
  • The slow-growing, indolent tumor usually presenting in the leg or buttock
  • Poorly responsive to chemotherapy and poor outcomes with late relapses
  • Some RCC
32
Q

t(X;18)

A
  • Synovial Sarcoma: SSX1/2 (X) and SYT (18) translocation
  • Most common NRSTS
  • Arises from deep soft tissues of the extremities (doesn’t have anything to do with the synovium)
  • Chemo-sensitive with an objective response rate of 56%
33
Q

i(7q)

A
  • γδ T cell lymphoma: Harbors characteristic isochromosome 7q
  • Presents with hepatosplenomegaly, cytopenias, and a smoldering HLH-like course
34
Q

IL3-IGH t(5;14)

A
  • B-ALL: IL3 (5) and IGH (14)
  • Associated with reactive hypereosinophilia (not part of the ALL clone)
35
Q

t(5;12)

A
  • CMML: PDGFRB (5) and TEL (12) translocation
  • Occurs in only a small percentage of CMML patients
36
Q

BCOR-CCNB3
Inv(Xp11)

A
  • EWS family of tumors: BCOR (X) and CCNB3 (X) translocation
  • Treated like EWS with similar response rates
37
Q

CIC-DUX4
t(4;19)

A
  • EWS family of tumors: CIC (19) and DUX4 (4) translocation
  • Treated like EWS with but tend to do poorly overall
38
Q

COL1A1-PDGFB t(17;22)

A
  • Dermatofibrosarcoma protuberans and giant cell fibroblastoma: COL1A1 (17) and PDGFB (22) translocation
39
Q

DDIT3-FUS t(12;16)

A
  • Liposarcoma, myxoid variant: DDIT3 (12) and FUS (16) translocation
  • EWS: DDIT3 (12) and EWS (22) translocation
40
Q

Del(19p13)

A
  • Fibrolamellar hepatocellular carcinoma: A deletion on chromosome 19 creates the characteristic DNAJB1-PRKACA fusion
41
Q

EWS-ATF1 t(12;22)

A
  • Clear cell sarcoma: EWS (22) and ATF1 (12) translocation
  • Arise close to tendons and aponeuroses (can mimic a ganglion cyst)
  • Morphologically like melanoma
  • Myxoid liposarcoma: DDIT3 (aka. CHOP; 12) and EWS (22) translocation
42
Q

KIAA1549-BRAF

A
  • Pilocytic astrocytoma: KIAA1549 (7) and BRAF (7) translocation
  • BRAFV600E inhibitors like vemurafenib result in paradoxical activation for BRAF and should not be used in these patients
43
Q

WWTR1-CAMTA1 t(1;3)

A
  • Epithelioid hemangioendothelioma: WWTR1 (3) and CAMTA1 (1) translocation
  • Occurs in liver, bone, soft tissue, skin
  • Treatment: Observation, surgery, targeted therapy, chemotherapy
44
Q

Xp11 translocation

A

Renal Cell Carcinoma

PHOT Boards 2023 (6 decks)

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