| Written | 1999-11 | Jérome Couturier |
| Department of Pathology, Institut Curie, Paris, France |
| Identity |
| ICD-Topo | C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE |
| ICD-Morpho | 9044/3 Clear cell sarcoma,NOS (except of kidney M-8964/3) |
| Atlas_Id | 5024 |
| Phylum | Soft Tissues::Melanoma soft parts |
| Other names | Clear cell sarcoma of soft parts |
| Classification |
| this tumour, initially described by Enzinger as clear cell sarcoma of tendons and aponeuroses, is of uncertain origin, but its immunohistochemical profile shows its melanocytic nature; however it has no genetic relationship with the cutaneous malignant melanoma |
| Clinics and Pathology |
| Embryonic origin | being of melanocytic origin, this tumour should be classified as a neuroectodermal tumour |
| Etiology | unknown |
| Epidemiology | it is a very rare tumour representing a minority of all soft tissue sarcomas |
| Clinics | the malignant melanoma of soft parts (MMSP) preferentially occurs in young adults, between ages of 20 and 40 years; the tumour develops mainly in the extremities, especially the legs (foot, knee, heel, ankle); it is usually deeply seated, and often bound to tendons and aponeuroses |
| Pathology | the tumours show compact nests and strands of round or fusiform cells with a clear cytoplasm, separated by fibrocollagenous tissue often connected to adjacent tendons or aponeuroses; mitotic index is generally low; the cells of nearly all cases express S-100 protein and the melanoma-associated antigen HMB45 |
| Treatment | the treatment protocols vary greatly according to the intitutions; however, the melanoma of soft parts is a highly malignant tumour which requires surgical excision combined with radiotherapy and/or chemotherapy |
| Evolution | many patients develop recurrences and regional and distant metastases, in lymph nodes, lung, and bones; in the series of Enzinger, the average time between diagnosis and recurrence was 2.6 years, between diagnosis and metastasis, 3.5 years |
| Prognosis | the prognosis is poor; in the series of 115 patients studied by Enzinger, 46% had died; of the 62 living patients, 21 experienced one or more recurrences, and 7 had a metastatic disease |
| Cytogenetics |
| Cytogenetics Morphological | this tumour is characterised by the presence of a chromosome translocation t(12;22)(q13;q12), which involves genes ATF-1, on chromosome 12, and EWS, on chromosome 22 |
| Genes involved and Proteins |
| Gene Name | EWSR1 |
| Location | 22q12 |
| Protein | RNA binding protein |
| Gene Name | ATF1 |
| Location | 12q13 |
| Protein | transcription factor |
| Result of the chromosomal anomaly |
| Fusion Protein | |
| Description | the chimaeric protein is composed of the N-terminal domain of EWS linked to the bZIP domain of ATF-1 |
| Oncogenesis | binds to ATF sites present in cAMP-responsive promoters via the ATF1 bZIP domain and activates transcription constitutively, dependent on the activation domain (EAD) present in EWSR1 |
| Bibliography |
| Clear cell sarcoma (malignant melanoma) of soft parts: A clinicopathologic study of 30 cases. |
| Deenik W, Mooi WJ, Rutgers EJ, Peterse JL, Hart AA, Kroon BB |
| Cancer. 1999 ; 86 (6) : 969-975. |
| PMID 10491522 |
| Soft tissue tumors. |
| Enzinger FM, Weiss SW |
| 3rd ed.. |
| The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator. |
| Fujimura Y, Ohno T, Siddique H, Lee L, Rao VN, Reddy ES |
| Oncogene. 1996 ; 12 (1) : 159-167. |
| PMID 8552387 |
| EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. |
| Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G |
| Nature genetics. 1993 ; 4 (4) : 341-345. |
| PMID 8401579 |
| Citation |
| This paper should be referenced as such : |
| Couturier, J |
| Soft tissue tumors: Malignant melanoma of soft parts |
| Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):207-208. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/MelanomaSoftID5024.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 3 ] |
| Genes | ATF1 | BRAF | EWSR1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;22)(q13;q12) EWSR1/ATF1 | |
| External links |
| Mitelman database | t(12;22)(q13;q12) EWSR1/ATF1 [Case List] t(12;22)(q13;q12) EWSR1/ATF1 [Association List] Mitelman database (CGAP - NCBI) |
| arrayMap | Topo ( C47,C49) arrayMap ((UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments] |
| Mitelman database | EWSR1/ATF1[MCList] EWSR1 (22q12.2) ATF1 (12q13.12) t(12;22)(q13;q12) |
| TICdb | EWSR1/ATF1 EWSR1 (22q12.2) ATF1 (12q13.12) |
| Other database | Tumor Portal - Broad Institute |
| Other database | Skin Cutaneous Melanoma (SKCM) TCGA Copy Number Portal |
| Other database | Cutaneous melanoma ( intOGen ) |
| Other database | Cutaneous melanoma ( intOGen ) |
| Other database | Malignant Melanoma (TCGA)(OASIS Portal) |
| Other database | Skin Cutaneous Melanoma [ Genomic Data Commons - NCI TCGA-SKCM] |
| Disease database | Soft Tissues: Melanoma: Malignant melanoma of soft parts |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:25:01 CEST 2017 |
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