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40 Cards in this Set

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Ewing's sarcoma/PNET
t(11;22)(q24;q12) FLI-1/EWSR1
- 95% cases
t(21;22)(q22;q12) ERG/EWSR1
- 5% cases
t(7;22)(p22;q12) ETV1/EWSR1
t(17;22)(q12;q12) EIAF/EWSR1
t(2;22)(q33;q12) FEV/EWSR1
t(11;22)(q24;q12)
Ewing's sarcoma/PNET
FLI-1/EWSR1

CONTRAST:
t(11;22)(p13;q12)
WT1/EWSR1
DSRCT
t(17;22)
t(17;22)
PDGFB/COL1A1

DFSP/GCFB
Alveolar rhabdomyosarcoma
t(2;13)(q35;q14) PAX3/FOXO1A or FKHR
- 95% cases(65% cases)

t(1;13)(p36;q14) PAX7/FOXO1A or FKHR
- 10% cases (15% cases)

CONTRAST:
Alveolar soft part sarcoma (ASPS)
t(X;17)(p11;q25)
ASPL/TFE3
Myxoid/round cell liposarcoma
t(12;16)(q13;q12) DDIT3/FUS or CHOP/TLS >95% cases

t(12;22)(q13;q11-12) CHOP/EWS

CONTRAST:
Clear cell sarcoma
t(12;22)(q13;q11-12) ATF1/EWS
desmoplastic small round cell tumor (DSRCT)
t(11;22)(p13;q12)
WT1/EWSR1
synovial sarcoma
t(X;18)(p11.2;q11.2)
SSX1/SYT
SSX2/SYT

CONTRAST:
t(X;17)
ASPL/TFE3
Alveolar soft part sarcoma (ASPS)
Clear cell sarcoma
t(12:22)(q13;q12)
ATF1/EWSR1

CONTRAST:
t(12;22)(q13;q11-12)
Myxoid/round cell liposarcoma
CHOP(DDIT3)/EWSR1
extraskeletal myxoid chondrosarcoma
t(9;22)(q22;q12) 75% cases
NR4A3/EWSR1 or CHN/EWS
t(9;17)(q22;q11) 25% cases
NR4A3/RBP56 or CHN/TAF2N

CONTRAS:
t(9;22)(q34;q11)
BCR/ABL
CML
DFSP/giant cell fibroblastoma
t(17;22)(q22;q13)
PDGFB/COL1A1
infantile fibrosarcoma
t(12;15)(p13;q25)
ETV6/NTRK3
>95%
alveolar soft part sarcoma
t(X;17)(p11;q25)
ASPL/TFE3
low grade fibromyxoid sarcoma
t(7;16)(q33;p11)
FUS/CREB3L2
angiomatoid MFH is associated with rearrangements of __
ATF1
aytpical lipomatous tumor/WD liposarcoma
ring 12q and giant marker chromosome
lipomas are associated with rearrangements involving
12q15

6p21
lipoblastomas are associated with rearrangments involving
8q11-13
aytpical lipomatous tumor/WD liposarcoma is associated with ___ of genes on chromosome __; the genes include:
amplification

12q13-15

HMG1C
MDM2
SAS
CDK4
endometrial stroma sarcoma is associated with translocation __
t(7;17)(p15;q21)
extrarenal rhabdoid tumor is associated with deletion or rearrangements of __
22q11.2
Most common cytogenetic abnormalities seen in single lipomas:
- translocations involving 12q13-15

- rearrangements of 13q

- rearrangements of 6p21-33
cytogenetic abnormalities associated with angiolipoma
NONE!! unique

normal karyotype
cytogenetic abnormalities associated with pleomorphic liposarcoma
complex rearrangements
EWS-ATF1
EWS-WT1
EWS-NR4A3
EWS-FLI1
EWS-CHOP(DDIT3)
EWS-ATF1 t(12;22)
-- clear cell sarcoma
EWS-WT1 t(11;22)(p13;q12
-- DSRCT
EWS-NR4A3 t(9:22)
-- extraskeletal myxoid chondrosarcoma
EWS-FLI1 t(11;22)(q24;q12)
-- EWS/PNET
EWS-CHOP(DDIT3) t(12;22)
-- <5% of myxoid liposarc
nomenclature used to describe human genes:
- official name assigned by HUGO
- common names
- HUGO (Human Gene Nomenclature Committee)
Ewing Sarcoma/PNET: EWS(EWSR1)-FLI1 fusion involves the ___-terminal domain of EWS
- amino terminal domain (N-terminal portion) of EWS and the C-termina portion of FLI1
Alveolar rhabdomyosarcoma (ARMS): translocations included __ and ___; testing for these make up the most commonly requested sarcoma translocation assays (why?)
t(2;13) PAX3-FKHR (60-70%)

t(1;13) PAX7-FKHR (10-20%)

10-30% of ARMS lack either of these translocations

- morphologically, ARMS and embryonal rhabdomyosarcomas (ERMS) may be indistinguishable, and treatment is different (reason why this is the most commonly requested sarcoma translocation assay)

- PAX3-FKHR positive ARMS are more aggressive than PAX7-FKHR positive ARMS (however, they look identical)
-
extraskeletal myxoid chondrosarcomas (EMC) harbor translocations involving ___, while skeletal myxoid chondrosarcomas __
t(9;22)(q22;q12) NR4A3-EWS

- skeletal myxoid chondrosarcomas lack this fusion (supporting the fact that these represent distinct entities)
Inflammatory myofibroblastic tumor can be positive by IHC for __ in __% of cases
ALK up-regulation (60%)
- not specific for IMT, as other mesenchymal tumors may show ALK positivity
- ALK positivity in IMT is more common in children and less so in adults
t(12;15) ETV6-NTRK3 is seen in ___
infantile fibrosarcoma and congenital mesoblastic nephroma (kidney tumor)

- not seen in adult fibrosarcomas

- infantile fibrosarcomas have a better prognosis than adult types
locally advanced and metastatic DFSP can be treated with __ due to ___
- imatinib
- imatinib blocks the PDGFB signaling on which the tumor needs for cellular proliferation and survival

t(17;22) COL1A1-PDGFB fusion
Giant cell tumor of tendon sheath and pigmented villonodular synovitis have been shown to be true neoplasms based on ___
- finding recurrent t(1;2) CSF1-COL6A3 fusion in a significant number of GCTTS and PVNS

- leads to overexpression of CSF1, which is detected in the minority of intratumoral cells (only a minority of cells in GCTSS and PVNS are neoplastic - the others are recruited by the local overexpression of CSF1)
KIT gene is on chr __
4
KIT receptor plays a normal role in ___
- development and function of interstitial cells of Cajal (ICC)
- hematopoiesis
- gametogenesis
- melanogenesis
1/3rd of GIST lackig KIT mutations harbor mutations in __
PDFGA
PDFGA-mutated GIST
- preference for gastric location
- epithelioid morphology
- variable absence of KIT expression by IHC
10% of GIST are ___ for both KIT and PDGFA
negative
- in particular, pediatric GIST and GIST in NF-1 patients are almost always wild-type (not mutated) for both genes
__% of GIST are KIT-negative by IHC
4% are KIT-negative GIST
- more likely to be epithelioid
- contain PDGFA mutations
- arise extra-gastrointestinal locations
patients with KIT-negative GIST (by IHC alone)should ___ offered tx w/ imatinib
should be
- they may still have imatinib-sensitive KIT or PDGFA mutations
Imatinib mesylate is a __
selective tyrosine kinase inhibitor that targets KIT and PDGFA

- partial or stable disease in 80% of metastatic GIST cases

- complete and long-lasting responses are rare (50% develop resistance)