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Gene Rearrangements Molecular Flashcards

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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
t(5;8)(p15;q13)
Angiofibroma of soft tissue; t(5;8)(p15;q13) with AHRR-NCOA2 fusion
26
AHRR-NCOA2
Angiofibroma of soft tissue; t(5;8)(p15;q13) with AHRR-NCOA2 fusion
27
Angiosarcoma
Angiosarcoma; Amplification of 8q24 (MYC)
28
8q24
Angiosarcoma; Amplification of 8q24 (MYC)
29
Atypical spindle cell lipomatous tumor
Atypical spindle cell lipomatous tumor; Loss of 13q14 (RB1); Similar to spindle cell lipoma, cellular angiofibroma, mammary-type myofibroblastoma, acral fibromyxoma
30
13q14
Atypical spindle cell lipomatous tumor; Loss of 13q14 (RB1); Similar to spindle cell lipoma, cellular angiofibroma, mammary-type myofibroblastoma, acral fibromyxoma
31
Atypical lipomatous tumor/well diff liposarcoma/de-diff liposarcoma
Atypical lipomatous tumor; Ring form of chromosome 12; amplification of MDM2, CDK4, CPM
32
Ring chr12
Atypical lipomatous tumor; Ring form of chromosome 12; amplification of MDM2, CDK4, CPM
33
MDM2
Atypical lipomatous tumor; Ring form of chromosome 12; amplification of MDM2, CDK4, CPM
34
Angiomatoid fibrous histiocytoma, clear cell sarcoma, malignant gastrointestinal neuroectodermal tumor
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
1. t(2;22)(q33;q12) | 2. t(12;22)(q13;q12)
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
EWSR1-CREB1 fusion | EWSR1-ATF1 fusion
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
Deep aggressive angiomyxoma
Deep aggressive angiomyxoma; Rearrangements of 12q14.3; HMGA2
38
12q14.3
Deep aggressive angiomyxoma; Rearrangements of 12q14.3; HMGA2
39
Dermatofibrosarcoma protuberans (DFSP) , giant cell fibroblastoma
Dermatofibrosarcoma protuberans (DFSP); t(17;22)(q21;q13) with COL1A1-PDGFB fusion
40
t(17;22)(q21;q13)
Dermatofibrosarcoma protuberans (DFSP); t(17;22)(q21;q13) with COL1A1-PDGFB fusion
41
COL1A1-PDGFB
Dermatofibrosarcoma protuberans (DFSP); t(17;22)(q21;q13) with COL1A1-PDGFB fusion
42
Desmoid-type fibromatosis
Desmoid-type fibromatosis; CTNNB1 (β-catenin gene) mutations in sporadic lesions; APC mutations in tumors arising within setting of Gardner syndrome
43
CTNNB1
Desmoid-type fibromatosis; CTNNB1 (β-catenin gene) mutations in sporadic lesions; APC mutations in tumors arising within setting of Gardner syndrome
44
Desmoplastic small round cell tumor
Desmoplastic small round cell tumor; t(11;22)(p13;q12) with EWSR1-WT1 fusion
45
t(11;22); (p13;q12)
Desmoplastic small round cell tumor; t(11;22)(p13;q12) with EWSR1-WT1 fusion
46
EWSR1-WT1
Desmoplastic small round cell tumor; t(11;22)(p13;q12) with EWSR1-WT1 fusion
47
Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma; t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion
48
t(1;3)(p36.3;q23-25)
Epithelioid hemangioendothelioma; t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion
49
WWTR1-CAMTA1
Epithelioid hemangioendothelioma; t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion
50
Epithelioid hemangioma
Epithelioid hemangioma; FOS rearrangements (14q24.3)
51
FOS
Epithelioid hemangioma; FOS rearrangements (14q24.3)
52
14q24.3
Epithelioid hemangioma; FOS rearrangements (14q24.3)
53
Epithelioid fibrous histiocytoma and inflammatory myofibroblastic tumor
Epithelioid fibrous histiocytoma and inflammatory myofibroblastic tumor; 2p23 (ALK gene) rearrangements
54
2p23
Epithelioid fibrous histiocytoma and inflammatory myofibroblastic tumor; 2p23 (ALK gene) rearrangements
55
Epithelioid sarcoma
Epithelioid sarcoma; 22q11-12 abnormalities; Inactivation of SMARCB1 (a.k.a. INI1 or SNF5)
56
22q11-12
Epithelioid sarcoma; 22q11-12 abnormalities; Inactivation of SMARCB1 (a.k.a. INI1 or SNF5)
57
SMARCB1 or INI1 (tons of tumors)
Epithelioid sarcoma, Extrarenal rhabdoid tumor; 22q11-12 abnormalities
58
Gastrointestinal stromal tumor
GIST KIT, PDGFRA mutations Rare: Mutations in SDH subunit genes (usually SDHB) or NF1
59
Kit and PDGFRA, SDHB mutations
GIST KIT, PDGFRA mutations Rare: Mutations in SDH subunit genes (usually SDHB) or NF1
60
Hibernoma
Hibernoma; 11q13 rearrangements
61
11q13
Hibernoma; 11q13 rearrangements
62
t(12;15)(p13;q26) with ETV6-NTRK3 fusion
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
ETV6-NTRK3 fusion
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
Intramuscular myxoma
Intramuscular myxoma; GNAS gene mutations
65
GNAS gene mutations
Intramuscular myxoma; GNAS gene mutations
66
NUT carcinoma
NUT carcinoma; t(15;19) BRD4-NUTM1 fusion
67
BRD4-NUTM1 fusion
NUT carcinoma; t(15;19) BRD4-NUTM1 fusion
68
t(15:19)
NUT carcinoma; t(15;19) BRD4-NUTM1 fusion

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