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Soft Tissue Tumors


Molecular / cytogenetics

Reviewer: Komal Arora, M.D. (see Reviewers page)
Revised: 17 July 2012, last major update July 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.


● 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 table 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)

Additional references

Arch Pathol Lab Med 2006;130:1199, Adv Exp Med Biol 2006;587:99, Int J Clin Exp Pathol 2010;3:416
Arch Pathol Lab Med 2010;134:e1

End of Soft Tissue Tumors > Introduction > Molecular / cytogenetics

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