Diagnostic Molecular and Cytogenetic Findings in Sarcomas

Histologic Type

Translocation or Rearrangement

Fusion Gene or Other Feature

Alveolar soft part sarcoma

t(X;17)(p11;q25)

ASPL-TFE3

Angiomatoid fibrous histiocytoma

t(12;22)(q13;q12)

EWSR1-ATF1

t(12;16)(q13;p11)

FUS-ATF1

t (2;22)(q33;q12)

EWSR1-CREB1

Clear cell sarcoma of soft parts

t(12;22)(q13;q12)

EWSR1-ATF1

Clear cell sarcoma (gastrointestinal)

t(2;22)(q33;q12)

EWSR1-CREB1

Dermatofibrosarcoma protuberans and variants

t(17;22)(q21;q13)

COL1A1-PDGFB

Ring form of chromosomes 17 and 22

Desmoplastic small round cell tumor

t(11;22)(p13;q12)

EWSR1-WT1

t(21;22)(q22;q12)

EWSR1-ERG

Endometrial stroma sarcoma

t(7;17)(p15:q21)

JAZF1-JJAZ1

t(6;7)(p21;p22)

JAZF1-PHF1

t(10:17)(q22;p13)

Epithelioid hemangioendothelioma

t(1;3)(p36.3;q25)

t(10;14)(p13;q24)

Gene for VEGF-related protein at 14q24

Epithelioid sarcoma

Abnormalities of 22q

INI1 inactivation

Ewing sarcoma/primitive neuroectodermal tumor

t(11;22)(q24;q12)

EWSR1-FLI1

t(21;22)(q12;q12)

EWSR1-ERG

t(2;22)(q33;q12)

EWSR1-FEV

t(7;22)(p22;q12)

EWSR1-ETV1

t(17;22)(q12;q12)

EWSR1-E1AF

inv(22)(q12;q12)

EWSR1-ZSG

Extraskeletal myxoid chondrosarcoma

t(9;22)(q22;q12)

EWSR1-NR4A3

t(9;17)(q22;q11)

TAF1168-NR4A3

t(9;15)(q22;q21)

TCF12-NR4A3

Fibrosarcoma, infantile

t(12;15)(p13;q26)

ETV6-NTRK3

Trisomies 8, 11, 17, and 20

Gastrointestinal stromal tumor

KIT, PDGFRA mutations

Inflammatory myofibroblastic tumor

2p23 rearrangement

ALK fusions with various genes

Leiomyosarcoma

Deletion of 1p

Liposarcoma

Well-differentiated

Ring form of chromosome 12

12q13-15 amplicon including MDM2, CDK4, HMGA2

Dedifferentiated

Ring forms and complex changes

12q14 amplicon including MDM2, CDK4, HMGA2, ASK1, and JUN amplification

Spindle cell

RB1 deletion

Myxoid/round cell

t(12;16)(q13;p11), t(12;22)(q13;q12)

FUS-DDIT3

t(12;22)(q13;q12)

EWSR1-DDIT3

Pleomorphic

Complex changes, multiple karyotypes

Low-grade fibromyxoid sarcoma

t(7;16)(q33;p11)

FUS-CREB3L2

FUS-CREB3L1 (in a small number of cases)

Malignant rhabdoid tumor

Deletion of 22q

INI1 inactivation

Malignant peripheral nerve sheath tumor

Complex changes

NF1 inactivation, INK4A deletion

Myxofibrosarcoma

Ring form of chromosome 12, complex changes

Myoxinflammatory fibroblastic sarcoma

t(1;10)(p22;q24), t(2;6)(q31;p21.3)

Rhabdomyosarcoma

Embryonal

Trisomies 2q, 8, and 20

Loss of heterozygosity at 11p15

Alveolar

t(1;13)(p36;q14)

PAX7-FKHR

t(2;13)(q35;q14)

PAX3-FKHR

Synovial sarcoma

t(X;18)(p11;q11)

SS18-SSX1, SS18-SSX2

SS18-SSX4 (very rarely)

t(X;20)(p11;q13)

SS18L1-SSX1