Soft tissue
General
Molecular / cytogenetics

Author: Komal Arora, M.D. (see Authors page)

Revised: 26 July 2016, last major update July 2012

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: Molecular / cytogenetics soft tissue

Definition / General
  • RT-PCR or FISH of paraffin-embedded tissue for tumor fusion transcripts is useful (Am J Surg Pathol 2002;26:965, Am J Surg Pathol 2008;32:8)
  • Note: in bullets below, gene for first chromosome in translocation is listed first

  • Alveolar soft parts sarcoma: t(X;17)(p11.2;q25) - ASPL-TFE3 fusion gene

  • Aneurysmal bone cyst, extracellular: t(17;17)(p13;q12)

  • Angiomatoid fibrous histiocytoma: t(12;16)(q13;p11) - ATF1-FUS fusion gene or t(12;22)(q13;q12) - ATF1-EWSR1 fusion gene (also present in clear cell sarcoma)

  • Chondroid lipoma of soft tissue: t(11,16)(q13;p12-13); also in hibernoma

  • Chondrosarcoma, myxoid, extraskeletal:
    • t(9;15)(q22;q21) - CHN-TCF12 fusion gene
    • t(9;17)(q22;q11) - CHN-RBP56 fusion gene
    • t(9;22)(q22;q12) - CHN-EWS fusion gene

  • Clear cell sarcoma: t(12;22)(q13;q12) - ATF1-EWSR1 fusion gene

  • Congenital fibrosarcoma / mesoblastic nephroma: t(12;15)(p13;q25) - ETV6-NTRK3 fusion gene

  • Dermatofibrosarcoma protuberans / giant cell fibroblastoma: t(17;22)(q22;q13) - COL1A1-PDGFB fusion gene

  • Desmoplastic fibroblastoma: occasionally t(2;11)(q31;q12) or 11q12 abnormalities

  • Desmoplastic small round cell tumor: t(11;22)(p13;q12) - WT1-EWS or t(21;22)(q22;q12) - ERG-EWS fusion genes

  • Ewing’s sarcoma / PNET, extraosseous:
    • t(11;22)(q24;q12) - FLI1-EWS fusion gene
    • t(2;22)(q33;q12) - FEV-EWS fusion gene
    • t(7,22);(p22;q12) - ETV1-EWS fusion gene
    • t(17;22)(q12;q12) - E1AF-EWS fusion gene
    • t(21;22)(q22;q12) - ERG-EWS fusion gene

  • Inflammatory myofibroblastic tumor: translocations at 2p23 involving ALK gene

  • Lipoma: t(12;14)(q13-15;q23-24) or related changes involving HMGA2 / HMGIC at 12q13-15

  • Liposarcoma-myxoid / round cell variants: t(12;16)(q13;p11) - TLS-CHOP / FUS fusion gene or t(12;22)(q13;q12) - CHOP-EWS fusion gene

  • Liposarcoma, well differentiated: marker ring or giant chromosomes derived from 12q13-15; amplification of MDM2 and CDK4

  • Low grade fibromyxoid sarcoma: t(7;16)(q32-34;p11) - FUS-CREB3L2 or t(11;16)(p11;p11) - FUS-CREB3L1

  • Rhabdomyosarcoma, alveolar: t(2;13)(q35;q14) - PAX3-FKHR or t(1;13)(p36;q14) - PAX7-FKHR

  • Synovial sarcoma: t(X;18)(p11.23;q11) - SYT-SSX1 or t(X;18)(p11.21;q11) - SYT-SSX2 fusion genes

  • Tenosynovial giant cell tumor: t(1;2)(p11;q35-37)