Soft Tissue Translocations Flashcards by Henry Tran | Brainscape

Q

Myxoid liposarcoma

A

t(12;16) (q13;p11)

FUS/CHOP (now called DDIT3)

90%

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Q

Myxoid liposarcoma

A

t(12;16)

(q13;p11)

FUS/CHOP (now called DDIT3)

90%

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Q

Chondroid lipoma

Hibernoma

A

t(11;16)

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Q

LG fibromyxoid sarcoma

A

t(7;16)

FUS/CREB3L2

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Q

Alveolar rhabdomyosarc (2)

A

t(2;13) PAX3-FKHR (now FOXO1)

t(1;13) PAX7-FKHR (now FOXO1)

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Q

Alveolar soft part sarcoma

A

t(x;17)

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Q

GCTs are associ. with what mutations?

A

CSF1

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Q

DSRCT

Translocation?

IHC profile?

Vimentin parttern?

A

t(11;22)

(p13;q12)

EWS-WT1

vim+ (perinuclear dot)
CK+
EMA+
WT+

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Q

Chondroid lipoma

Hibernoma

A

t(11;16)

q13;p13

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Q

Alveolar rhabdomyosarc (2)

Myogenin vs. embryonal?
prognosis vs. embryonal?

A

t(2;13) PAX3-FKHR (now FOXO1)**
t(1;13) PAX7-FKHR

Greater myogenin expression
worse prognosis

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Q

GCTs are associ. with what mutations?

Target for tx?

A

CSF1

Rank ligand

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Q

Intrasmucular myxomas

Syndromes?

A

GNAS1 point mutations

encodes for a G-protein leads to cAMP production

McCune-Albright
Mazabraud
Non-syndromic

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Q

ES myxoid chondrosarc

A

t(9;22)

q22;q12

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Q

Well-diff LS

A

MDM2

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Q

Clear cell sarc

A

t(12;22)

q13;q12

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Q

LG fibromyxoid sarcoma

Unique IHC?

A

t(7;16)

FUS/CREB3L2

MUC4 (highly sens and spec)

Q

Alveolar soft part sarcoma

A

t(x;17) (p11;q25)

TFE3 gene on Xp11

Q

Clear cell sarc

*How do they differ from PEComas?

A

t(12;22) (q13;q12)

*No myo-differention

Q

SFT associated with what paraneoplastic syndrome?

What’s the syndrome called?

A

Hypoglycemia 2/2 ILFG

aka Doege-Potter syndrome

Q

Angiomatoid fibrous histiocytoma

A

EWSR1-CREB1 now MC

old = EWSR1-ATF1
old = FUS-ATF1

Q

Lipomas

A

12q13-15 (66%)

Q

Spindle cell lipomas
Mammary-type myofibroblastoma
Cellular angiofibroma

A

13q14-22

Decreased Rb expression

Q

Synonyms for INI-1

A

hSNF5
SMARCB
BAF47

Q

IHC for epithelioid sarcomas

A

loss of INI-1 *like ATRT/Rhabdoid tumors

Q

Syndromes assoc. with fibrous dysplasia?

What mutations?

A

McCune-Albright (+cafe au lait, +endocrinopathy)

Mazabraud (intramuscular myxomas)

GNAS1

Q

ABC

A

t(16;17)

CDH11:USP6 fusion