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Soft Tissues: Melanoma: Malignant melanoma of soft parts

Written1999-11Jérome Couturier
Department of Pathology, Institut Curie, Paris, France

(Note : for Links provided by Atlas : click)

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 namesClear 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 databaseEWSR1/ATF1[MCList]    EWSR1 (22q12.2) ATF1 (12q13.12)   t(12;22)(q13;q12)
TICdbEWSR1/ATF1    EWSR1 (22q12.2) ATF1 (12q13.12)
 
Other databaseTumor Portal - Broad Institute
Other databaseSkin Cutaneous Melanoma (SKCM) TCGA Copy Number Portal
Other databaseCutaneous melanoma ( intOGen )
Other databaseCutaneous melanoma ( intOGen )
Other databaseMalignant Melanoma (TCGA)(OASIS Portal)
Other databaseSkin Cutaneous Melanoma [ Genomic Data Commons - NCI TCGA-SKCM]
Disease databaseSoft Tissues: Melanoma: Malignant melanoma of soft parts
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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