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Soft tissue molecular COPY Flashcards

(48 cards)

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1
Q

Alveolar rhabdomyosarcoma

A

t(2;13)(q35;q14) with PAX3-FOXO1 fusion Most common (60% of cases)
t(1;13)(p36;q14) with PAX7-FOXO1 fusion

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2
Q

Alveolar soft part sarcoma

A

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

Same gene fusion present in subset of distinctive pediatric renal cell carcinoma

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3
Q

Synovial sarcoma

A

t(X;18)(p11;q11) involving SS18 (SYT) gene Fusions between SS18 and SSX1 (most common), SSX2, or SSX4 (rare) and

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4
Q

Aneurysmal bone cyst of soft tissue

A

17p13 rearrangements Involves USP6 gene

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5
Q

Nodular fasciitis

A

t(17;22)(p13;q13) with MYH9-USP6 fusion

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6
Q

Angiofibroma of soft tissue

A

t(5;8)(p15;q13) with AHRR-NCOA2 fusion

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7
Q

Angiosarcoma

A

Amplification of 8q24 (MYC) Characteristic of tumors arising in association with radiation or lymphedema

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8
Q

Lipoblastoma

A

8q11-13 rearrangements Involves PLAG1

Also seen in PA

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9
Q

Chondroid lipoma

A

t(11;16)(q13;p13) with C11orf95-MKL2 fusion

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10
Q

Atypical lipomatous tumor

A

Ring form of chromosome 12; amplification of MDM2, CDK4, CPM Same tumor as well-differentiated liposarcoma

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11
Q

Well-differentiated liposarcoma

A

Ring form of chromosome 12; amplification of MDM2, CDK4, CPM Same tumor as atypical lipomatous tumor

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12
Q

Dedifferentiated liposarcoma

A

Ring form of chromosome 12, amplification of MDM2, CDK4, CPM by FISH analysis Also present in atypical lipomatous tumor/well-differentiated liposarcoma

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13
Q

Deep “aggressive” angiomyxoma

A

Rearrangements of 12q14.3 Involves HMGA2

Also seen in pleomorphic adenomas

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14
Q

Soft tissue chondroma

A

12q13-15 rearrangements Involves HMGA2

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15
Q

Dermatofibrosarcoma protuberans

A

t(17;22)(q21;q13) with COL1A1-PDGFB fusion Also present in giant cell fibroblastoma
Ring form of chromosomes 17 and 22 Not seen in giant cell fibroblastoma

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16
Q

Giant cell fibroblastoma

A

t(17;22)(q21;q13) with COL1A1-PDGFB fusion Also present in dermatofibrosarcoma protuberans

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17
Q

Angiomatoid fibrous histiocytoma

A

t (2;22)(q33;q12) with EWSR1-CREB1 fusion Most common (90% of cases); also present in clear cell sarcoma and malignant gastrointestinal neuroectodermal tumor
t(12;22)(q13;q12) with EWSR1-ATF1 fusion Also present in clear cell sarcoma and malignant gastrointestinal neuroectodermal tumor
t(12;16)(q13;p11) with FUS-ATF1 fusion

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18
Q

Extraskeletal myxoid chondrosarcoma

A

t(9;22)(q22;q12) with EWSR1-NR4A3 fusion Most common

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19
Q

Clear cell sarcoma

A

t(12;22)(q13;q12) with EWSR1-ATF1 fusion Most common (90% of cases); also present in angiomatoid fibrous histiocytoma and malignant gastrointestinal neuroectodermal tumor
t(2;22)(q33;q12) with EWSR1-CREB1 fusion Also present in angiomatoid fibrous histiocytoma and malignant gastrointestinal neuroectodermal tumor

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20
Q

Malignant gastrointestinal neuroectodermal tumor

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A

t(2;22)(q33;q12) with EWSR1-CREB1 fusion Also seen in clear cell sarcoma and angiomatoid fibrous histiocytoma
t(12;22)(q13;q12) with EWSR1-ATF1 fusion Also present in clear cell sarcoma and angiomatoid fibrous histiocytoma

21
Q

Desmoplastic small round cell tumor

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A

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

22
Q

Ewing sarcoma

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A

t(11;22)(q24;q12) with EWSR1-FLI1 fusion Most common (85% of cases)
t(21;22)(q22;q12) with EWSR1-ERG fusion
t(2;22)(q33;q12) with EWSR1-FEV fusion
t(7;22)(p22;q12) with EWSR1-ETV1 fusion
t(17;22)(q21;q12) with EWSR1-ETV4 fusion
Very rare fusions involving FUS

23
Q

Myoepithelioma of soft tissue

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A

t(1;22)(q23;q12) with EWSR1-PBX fusion

t(6;22)(p12;q12) with EWSR1-POU5F1 fusion

t(19;22)(q13;q12) with EWSR1-ZNF444 fusion Rare

Loss of INI1 loss

25
Q

Extrarenal rhabdoid tumor

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A

Deletion of 22q11.2 Inactivation of SMARCB1 (a.k.a. INI1 or SNF5)

26
Desmoid-type fibromatosis
CTNNB1 (β-catenin gene) mutations in sporadic lesions APC mutations in tumors arising within setting of Gardner syndrome
27
Hibernoma
11q13 rearrangements
28
Desmoplastic fibroblastoma
11q12 rearrangements Recurrent t(2;11)(q31;q12) reported
29
Epithelioid hemangioendothelioma
t(1;3)(p36.3;q23-25) with WWTR1-CAMTA1 fusion Nearly all cases
30
Infantile fibrosarcoma
t(12;15)(p13;q26) with ETV6-NTRK3 fusion Identical aberration seen in cellular mesoblastic nephroma of the kidney and MASC
31
Hemosiderotic fibrolipomatous tumor
t(1;10)(p22;q24) with TGFBR3-MGEA5 fusion Also present in myxoinflammatory fibroblastic sarcoma
32
Epithelioid fibrous histiocytoma
2p23 (ALK gene) rearrangements Most cases
33
Gastrointestinal stromal tumor
KIT, PDGFRA mutations Rare: Mutations in SDH subunit genes (usually SDHB) or NF1
34
Inflammatory myofibroblastic tumor
2p23 rearrangements Results in ALK gene fusion
35
Intramuscular myxoma
GNAS gene mutations
36
Myxoid liposarcoma
t(12;16)(q13;p11) with FUS-DDIT3
37
PEComa
Deletion of 16p Loss of TSC2
38
Low-grade fibromyxoid sarcoma
t(7;16)(q33;p11) with FUS-CREB3L2 Most common (65-70% of cases); also present in some cases of sclerosing epithelioid fibrosarcoma t(11;16)(p11;p11) with FUS-CREB3L1 Rare
39
Tenosynovial giant cell tumor
t(1;2)(2p;13q) with CSF1-COL6A3 fusion Can be identified in both localized and diffuse forms
40
Myxoinflammatory fibroblastic sarcoma
t(1;10)(p22;q24) with TGFBR3-MGEA5 fusion Also present in hemosiderotic fibrolipomatous tumor
41
Ossifying fibromyxoid tumor
6p21 rearrangements Involves PHF1
42
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma
t(7;19)(q22;q13) with SERPINE1-FOSB fusion
43
Solitary fibrous tumor
12q13 aberrations Intrachromosomal rearrangement results in characteristic NAB2-STAT6 fusion
44
Mammary-type myofibroblastoma
Loss of 13q14 (RB1) Same as spindle cell/pleomorphic lipoma and cellular angiofibroma
45
Spindle cell/pleomorphic lipoma
Loss of 13q14 (RB1) Also present in mammary-type myofibroblastoma and cellular angiofibroma
46
Cellular angiofibroma
Loss of 13q14 (RB1) Same abnormality in mammary-type myofibroblastoma and spindle cell/pleomorphic lipoma
47
Spindle cell liposarcoma
Loss of 13q14 (RB1)
48
Chondrosarcoma
IDH1 and IDH2 mutations
49
Epithelioid sarcoma
22q11-12 abnormalities Inactivation of SMARCB1 (a.k.a. INI1 or SNF5)

Soft tissue molecular (2 decks)

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