Cytogenetic Studies


Tumor type

Cytogenetic change

Fusion protein

Alveolar soft part sarcoma

t(X;17)(p11;q25)

ASPL–TFE3

Clear cell sarcoma/melanoma of soft parts

t(12;22)(q13;q12)

EWS–ATF1

t(2;22)(q34;q12)

EWS–CREB1

Chondrosarcoma, extraskeletal myxoid

t(9;22)(q22:q12)

EWS–CHN

t(9;17)(q22:q11)

RBP56–CHN

t(9;15)(q22;q21)

TCF12–CHN

Dermatofibrosarcoma protuberans

t(17;22)(q21;q13)

COL1A1–PDGFB

DPSRCT

t(11;22)(p13;q12)

EWS–WT1

Endometrial stromal sarcoma

t(7;17)(p15;q21)

JAZF1–JJAZ1

Ewing sarcoma/PNET

t(11;22)(q24;q12)

EWS–FLI1

t(21;22)(q22;q12)

EWS–ERG

t(7;22)(p22;q12)

EWS–ETV1

t(17;22)(q21;q12)

EWS–E1AF

t(2;22)(q33;q12)

EWS–FEV

Inflammatory myofibroblastic tumor

Translocations at 2p23 involving ALK gene

TPM3–ALK

TPM4–ALK

CLTC–ALK

Liposarcoma, myxoid/round cell

t(12;16)(q13;p11)

FUS/TLS–CHOP

t(12;22)(q13;q12)

EWS–CHOP

Liposarcoma, well differentiated

Marker ring or giant chromosomes 12q13-15; amplification of MDM2 and CDK4

Amplification of MDM2 and CDK4

PEComas

TFE3 rearrangement or amplification

TFE3

Rhabdomyosarcoma, alveolar

t(2;13)(q35;q14)

PAX3–FKHR

t(1;13)(p36;q14)

PAX7–FKHR

Rhabdomyosarcoma, embryonal

Trisomies, 2q, 8, and 20

None

Loss of heterozygosity at 11p15

none

Synovial sarcoma

t(X;18)(p11;q11)

SYT–SSX1
 
SYT–SSX2
 
SYT–SSX4

Wilms tumor

11p13 deletion/mutation

WT1

11p15 mutation
 
Trisomy 12
 

Abbreviations: DPSCT desmoplastic small round cell tumor, PEComas perivascular epithelioid cell neoplasms (including angiomyolipoma, clear cell sugar tumor, lymphangioleiomyomatosis), PNET primitive neuroectodermal tumor

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Jul 8, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Cytogenetic Studies

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