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Pathology > Soft tissue translocation > Flashcards

Soft tissue translocation Flashcards

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 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

PLAG1 is also seen in PA

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9
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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10
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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11
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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12
Q

Deep “aggressive” angiomyxoma

A

Rearrangements of 12q14.3 Involves HMGA2

Also seen in pleomorphic adenomas

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13
Q

Soft tissue chondroma

A

12q13-15 rearrangements Involves HMGA2

Also seen in PA and deep aggressive angiomyxoma

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14
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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15
Q

Giant cell fibroblastoma

A

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

Also present in dermatofibrosarcoma protuberans

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16
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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17
Q

Extraskeletal myxoid chondrosarcoma

A

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

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18
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

19
Q

Malignant gastrointestinal neuroectodermal tumor

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

20
Q

Desmoplastic small round cell tumor

A

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

21
Q

Ewing sarcoma

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

22
Q

Extrarenal rhabdoid tumor

A

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

23
Q

Desmoid-type fibromatosis

A

CTNNB1 (β-catenin gene) mutations in sporadic lesions

APC mutations in tumors arising within setting of Gardner syndrome

24
Q

Epithelioid hemangioendothelioma

A

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

Nearly all cases

25
Q

Infantile fibrosarcoma

A

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

Identical aberration seen in cellular mesoblastic nephroma of the kidney and MASC

26
Q

Hemosiderotic fibrolipomatous tumor

A

t(1;10)(p22;q24) with TGFBR3-MGEA5 fusion

Also present in myxoinflammatory fibroblastic sarcoma

27
Q

Epithelioid fibrous histiocytoma

A

2p23 (ALK gene) rearrangements Most cases

28
Q

Gastrointestinal stromal tumor

A

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

29
Q

Inflammatory myofibroblastic tumor

A

2p23 rearrangements Results in ALK gene fusion

30
Q

Epithelioid sarcoma

A

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

31
Q

Intramuscular myxoma

A

GNAS gene mutations

32
Q

Myxoid liposarcoma

A

t(12;16)(q13;p11) with FUS-DDIT3

33
Q

PEComa

A

Deletion of 16p Loss of TSC2

34
Q

Low-grade fibromyxoid sarcoma

A

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

35
Q

Myxoinflammatory fibroblastic sarcoma

A

t(1;10)(p22;q24) with TGFBR3-MGEA5 fusion

Also present in hemosiderotic fibrolipomatous tumor

36
Q

Ossifying fibromyxoid tumor

A

6p21 rearrangements Involves PHF1

37
Q

Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma

A

t(7;19)(q22;q13) with SERPINE1-FOSB fusion

38
Q

Solitary fibrous tumor

A

12q13 aberrations Intrachromosomal rearrangement results in characteristic NAB2-STAT6 fusion

39
Q

Mammary-type myofibroblastoma

A

Loss of 13q14 (RB1)

Same as spindle cell/pleomorphic lipoma and cellular angiofibroma

40
Q

Spindle cell/pleomorphic lipoma

A

Loss of 13q14 (RB1)

Also present in mammary-type myofibroblastoma and cellular angiofibroma

41
Q

Cellular angiofibroma

A

Loss of 13q14 (RB1)

Same abnormality in mammary-type myofibroblastoma and spindle cell/pleomorphic lipoma

42
Q

Spindle cell liposarcoma

A

Loss of 13q14 (RB1)

43
Q

Chondrosarcoma

A

IDH1 and IDH2 mutations

Pathology (16 decks)

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