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AP Boards > Gene Rearrangements Molecular > Flashcards

Gene Rearrangements Molecular Flashcards

1
Q

Which tumors have NTRK fusions?

A

Congenital infantile fibrosarcoma, congenital mesoblastic nephroma, glioblastomas, acute myeloid leukemia, secretory breast carcinoma, mammary analogue secretory carcinoma, inflammatory myofibroblastic tumor, and some lung cancers

t(12;15)(p13;q26) with ETV6-NTRK3 fusion in CIFS

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2
Q

Mucoepidermoid carcinoma

A

Mucoepidermoid carcinoma is characterized by MECT1-MAML2 fusion transcripts with a unique translocation t(11;19)(q21;p13)

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3
Q

MECT-MAML2

A

mucoepidermoid carcinoma, t(11;19)(q21;p13)

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4
Q

t(11;19)(q21;p13)

A

Mucoepidermoid carcinoma, MECT1-MAML2

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5
Q

Ewing’s Sarcoma

A

EWSR-FLI1 rearrangement involving t(11;22)

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6
Q

EWSR-FLI1

A

Ewing’s sarcoma, t(11;22)

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7
Q

t(11:22)

A

Ewing’s sarcoma, EWSR-FLI1

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8
Q

Myxoid liposarcoma

A

FUS-DDIT3 gene fusions or EWSR1-DDIT3

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9
Q

FUS-DDIT3 gene fusions or EWSR1-DDIT3

A

Myxoid liposarcoma

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10
Q

Acral fibromyxoma

A

Loss of 13q12 (RB1), Similar to spindle cell lipoma

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11
Q

Loss of 13q12

A

Acral fibromyxoma or spindle cell lipoma; Rb1

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12
Q

Rb1

A

Loss of 13q12, acral fibromyxoma or spindle cell lipoma.

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13
Q

Alveolar rhabdomyosarcoma

A
  1. t(2;13)(q35;q14) with PAX3-FOXO1 fusion (60% of cases and worse prognosis, more aggressive)
  2. t(1;13)(p36;q14) with PAX7-FOXO1 fusion
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14
Q

PAX3-FOXO1

A

Alveolar rhabdomyosarcoma

  1. t(2;13)(q35;q14) with PAX3-FOXO1 fusion (60% of cases and worse prognosis, more aggressive)
  2. t(1;13)(p36;q14) with PAX7-FOXO1 fusion
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15
Q

PAX7-FOXO1

A

Alveolar rhabdomyosarcoma

  1. t(2;13)(q35;q14) with PAX3-FOXO1 fusion (60% of cases and worse prognosis, more aggressive)
  2. t(1;13)(p36;q14) with PAX7-FOXO1 fusion
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16
Q

t(2;13)(q35;q14)

A

Alveolar rhabdomyosarcoma

  1. t(2;13)(q35;q14) with PAX3-FOXO1 fusion (60% of cases and worse prognosis, more aggressive)
  2. t(1;13)(p36;q14) with PAX7-FOXO1 fusion
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17
Q

t(1;13)(p36;q14)

A

Alveolar rhabdomyosarcoma

  1. t(2;13)(q35;q14) with PAX3-FOXO1 fusion (60% of cases and worse prognosis, more aggressive)
  2. t(1;13)(p36;q14) with PAX7-FOXO1 fusion
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18
Q

Alveolar soft part sarcoma

A

der(17)t(X;17)(p11;q25) with ASPSCR1-TFE3 fusion

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19
Q

ASPSCR1-TFE3

A

Alveolar soft part sarcoma; der(17)t(X;17)(p11;q25) with ASPSCR1-TFE3 fusion

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20
Q

der(17)t(X;17)(p11;q25)

A

Alveolar soft part sarcoma; der(17)t(X;17)(p11;q25) with ASPSCR1-TFE3 fusion

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21
Q

Aneurysmal bone cyst of soft tissue

A

Aneurysmal bone cyst of soft tissue; 17p13 rearrangements, USP6 gene

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22
Q

17p13

A

Aneurysmal bone cyst of soft tissue; 17p13 rearrangements, USP6 gene

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23
Q

USP6

A

Aneurysmal bone cyst of soft tissue; 17p13 rearrangements, USP6 gene

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24
Q

Angiofibroma of soft tissue

A

Angiofibroma of soft tissue; t(5;8)(p15;q13) with AHRR-NCOA2 fusion

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25
Q

t(5;8)(p15;q13)

A

Angiofibroma of soft tissue; t(5;8)(p15;q13) with AHRR-NCOA2 fusion

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26
Q

AHRR-NCOA2

A

Angiofibroma of soft tissue; t(5;8)(p15;q13) with AHRR-NCOA2 fusion

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27
Q

Angiosarcoma

A

Angiosarcoma; Amplification of 8q24 (MYC)

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28
Q

8q24

A

Angiosarcoma; Amplification of 8q24 (MYC)

29
Q

Atypical spindle cell lipomatous tumor

A

Atypical spindle cell lipomatous tumor; Loss of 13q14 (RB1); Similar to spindle cell lipoma, cellular angiofibroma, mammary-type myofibroblastoma, acral fibromyxoma

30
Q

13q14

A

Atypical spindle cell lipomatous tumor; Loss of 13q14 (RB1); Similar to spindle cell lipoma, cellular angiofibroma, mammary-type myofibroblastoma, acral fibromyxoma

31
Q

Atypical lipomatous tumor/well diff liposarcoma/de-diff liposarcoma

A

Atypical lipomatous tumor; Ring form of chromosome 12; amplification of MDM2, CDK4, CPM

32
Q

Ring chr12

A

Atypical lipomatous tumor; Ring form of chromosome 12; amplification of MDM2, CDK4, CPM

33
Q

MDM2

A

Atypical lipomatous tumor; Ring form of chromosome 12; amplification of MDM2, CDK4, CPM

34
Q

Angiomatoid fibrous histiocytoma, clear cell sarcoma, malignant gastrointestinal neuroectodermal tumor

A

Angiomatoid fibrous histiocytoma;

  1. t(2;22)(q33;q12) with EWSR1-CREB1 fusion
  2. t(12;22)(q13;q12) with EWSR1-ATF1 fusion

t(2;22) most common (90% of cases); also present in clear cell sarcoma and malignant gastrointestinal neuroectodermal tumor

35
Q
  1. t(2;22)(q33;q12)

2. t(12;22)(q13;q12)

A

Angiomatoid fibrous histiocytoma;

  1. t(2;22)(q33;q12) with EWSR1-CREB1 fusion
  2. t(12;22)(q13;q12) with EWSR1-ATF1 fusion

t(2;22) most common (90% of cases); also present in clear cell sarcoma and malignant gastrointestinal neuroectodermal tumor

36
Q

EWSR1-CREB1 fusion

EWSR1-ATF1 fusion

A

Angiomatoid fibrous histiocytoma;

  1. t(2;22)(q33;q12) with EWSR1-CREB1 fusion
  2. t(12;22)(q13;q12) with EWSR1-ATF1 fusion

t(2;22) most common (90% of cases); also present in clear cell sarcoma and malignant gastrointestinal neuroectodermal tumor

37
Q

Deep aggressive angiomyxoma

A

Deep aggressive angiomyxoma; Rearrangements of 12q14.3; HMGA2

38
Q

12q14.3

A

Deep aggressive angiomyxoma; Rearrangements of 12q14.3; HMGA2

39
Q

Dermatofibrosarcoma protuberans (DFSP) , giant cell fibroblastoma

A

Dermatofibrosarcoma protuberans (DFSP); t(17;22)(q21;q13) with COL1A1-PDGFB fusion

40
Q

t(17;22)(q21;q13)

A

Dermatofibrosarcoma protuberans (DFSP); t(17;22)(q21;q13) with COL1A1-PDGFB fusion

41
Q

COL1A1-PDGFB

A

Dermatofibrosarcoma protuberans (DFSP); t(17;22)(q21;q13) with COL1A1-PDGFB fusion

42
Q

Desmoid-type fibromatosis

A

Desmoid-type fibromatosis; CTNNB1 (β-catenin gene) mutations in sporadic lesions; APC mutations in tumors arising within setting of Gardner syndrome

43
Q

CTNNB1

A

Desmoid-type fibromatosis; CTNNB1 (β-catenin gene) mutations in sporadic lesions; APC mutations in tumors arising within setting of Gardner syndrome

44
Q

Desmoplastic small round cell tumor

A

Desmoplastic small round cell tumor; t(11;22)(p13;q12) with EWSR1-WT1 fusion

45
Q

t(11;22); (p13;q12)

A

Desmoplastic small round cell tumor; t(11;22)(p13;q12) with EWSR1-WT1 fusion

46
Q

EWSR1-WT1

A

Desmoplastic small round cell tumor; t(11;22)(p13;q12) with EWSR1-WT1 fusion

47
Q

Epithelioid hemangioendothelioma

A

Epithelioid hemangioendothelioma; t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion

48
Q

t(1;3)(p36.3;q23-25)

A

Epithelioid hemangioendothelioma; t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion

49
Q

WWTR1-CAMTA1

A

Epithelioid hemangioendothelioma; t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion

50
Q

Epithelioid hemangioma

A

Epithelioid hemangioma; FOS rearrangements (14q24.3)

51
Q

FOS

A

Epithelioid hemangioma; FOS rearrangements (14q24.3)

52
Q

14q24.3

A

Epithelioid hemangioma; FOS rearrangements (14q24.3)

53
Q

Epithelioid fibrous histiocytoma and inflammatory myofibroblastic tumor

A

Epithelioid fibrous histiocytoma and inflammatory myofibroblastic tumor; 2p23 (ALK gene) rearrangements

54
Q

2p23

A

Epithelioid fibrous histiocytoma and inflammatory myofibroblastic tumor; 2p23 (ALK gene) rearrangements

55
Q

Epithelioid sarcoma

A

Epithelioid sarcoma; 22q11-12 abnormalities; Inactivation of SMARCB1 (a.k.a. INI1 or SNF5)

56
Q

22q11-12

A

Epithelioid sarcoma; 22q11-12 abnormalities; Inactivation of SMARCB1 (a.k.a. INI1 or SNF5)

57
Q

SMARCB1 or INI1 (tons of tumors)

A

Epithelioid sarcoma, Extrarenal rhabdoid tumor; 22q11-12 abnormalities

58
Q

Gastrointestinal stromal tumor

A

GIST
KIT, PDGFRA mutations
Rare: Mutations in SDH subunit genes (usually SDHB) or NF1

59
Q

Kit and PDGFRA, SDHB mutations

A

GIST
KIT, PDGFRA mutations
Rare: Mutations in SDH subunit genes (usually SDHB) or NF1

60
Q

Hibernoma

A

Hibernoma; 11q13 rearrangements

61
Q

11q13

A

Hibernoma; 11q13 rearrangements

62
Q

t(12;15)(p13;q26) with ETV6-NTRK3 fusion

A

Congenital infantile fibrosarcoma, congenital mesoblastic nephroma, glioblastomas, acute myeloid leukemia, secretory breast carcinoma, mammary analogue secretory carcinoma, inflammatory myofibroblastic tumor, and some lung cancers

t(12;15)(p13;q26) with ETV6-NTRK3 fusion in CIFS

63
Q

ETV6-NTRK3 fusion

A

Congenital infantile fibrosarcoma, congenital mesoblastic nephroma, glioblastomas, acute myeloid leukemia, secretory breast carcinoma, mammary analogue secretory carcinoma, inflammatory myofibroblastic tumor, and some lung cancers

t(12;15)(p13;q26) with ETV6-NTRK3 fusion in CIFS

64
Q

Intramuscular myxoma

A

Intramuscular myxoma; GNAS gene mutations

65
Q

GNAS gene mutations

A

Intramuscular myxoma; GNAS gene mutations

66
Q

NUT carcinoma

A

NUT carcinoma; t(15;19) BRD4-NUTM1 fusion

67
Q

BRD4-NUTM1 fusion

A

NUT carcinoma; t(15;19) BRD4-NUTM1 fusion

68
Q

t(15:19)

A

NUT carcinoma; t(15;19) BRD4-NUTM1 fusion

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