KEGG DISEASE: Extraskeletal myxoid chondrosarcoma

KEGG

DISEASE: Extraskeletal myxoid chondrosarcoma

Entry

H00053                      Disease

Name

Extraskeletal myxoid chondrosarcoma

Supergrp

Solid tumor [DS:H02421]
Soft tissue sarcomas [DS:H02427]

Description

Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion gene, TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation.

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant mesenchymal neoplasms
     2B50  Chondrosarcoma, primary site
      H00053  Extraskeletal myxoid chondrosarcoma

Gene

EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8148] [KO:K14651]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Kawaguchi S, Wada T, Nagoya S, Ikeda T, Isu K, Yamashiro K, Kawai A, Ishii T, Araki N, Myoui A, Matsumoto S, Umeda T, Yoshikawa H, Hasegawa T

Title

Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study of 42 Cases in Japan.

Journal

Cancer 97:1285-92 (2003)
DOI:10.1002/cncr.11162

Reference

Authors

Letson GD, Muro-Cacho CA.

Title

Genetic and molecular abnormalities in tumors of the bone and soft tissues.

Journal

Cancer Control 8:239-51 (2001)
DOI:10.1177/107327480100800304

Reference

Authors

Helman LJ, Meltzer P.

Title

Mechanisms of sarcoma development.

Journal

Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168

Reference

Authors

Fisher C.

Title

Current aspects of the pathology of soft tissue sarcomas.

Journal

Semin Radiat Oncol 9:315-27 (1999)
DOI:10.1053/SRAO00900315

Reference

Authors

Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H.

Title

Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases.

Journal

Hum Pathol 32:1116-24 (2001)
DOI:10.1053/hupa.2001.28226

Reference

Authors

Oliveira AM, Sebo TJ, McGrory JE, Gaffey TA, Rock MG, Nascimento AG.

Title

Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and ploidy analysis of 23 cases.

Journal

Mod Pathol 13:900-8 (2000)
DOI:10.1038/modpathol.3880161

Reference

PMID:10602519 (TAF15-NR4A3)

Authors

Panagopoulos I, Mencinger M, Dietrich CU, Bjerkehagen B, Saeter G, Mertens F, Mandahl N, Heim S

Title

Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).

Journal

Oncogene 18:7594-8 (1999)
DOI:10.1038/sj.onc.1203155

LinkDB

» Japanese version

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