Molecular cytogenetic characterization of proximal-type epithelioid sarcoma

• Tipo: Artigo em Revista Científica Internacional
• Data: 2004

Autores

Lualdi, E (Autor) Outra; Modena, P (Autor) Outra; Debiec Rychter, M (Autor) Outra; Pedeutour, F (Autor) Outra; Manuel R Teixeira (Autor) ICBAS; Facchinetti, F (Autor) Outra; Dagrada, GP (Autor) Outra; Pilotti, S (Autor) Outra; Sozzi, G (Autor) Outra

Revista

Título: Genes Chromosomes and Cancer

Vol. 41

Páginas: 283-290

ISSN: 1045-2257

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 41 Citações

Scopus - 55 Citações

Outras Informações

ID Authenticus: P-000-7VP

DOI: 10.1002/gcc.20086

Abstract (EN): Proximal-type epithelioid sarcoma is a recently described soft-tissue tumor that is distinguished from conventional-type epithelioid sarcoma by a far more aggressive clinical course, frequent location in the proximal anatomic regions, and variable rhabdoid morphology. Because of their rarity and peculiar morphology, proximal-type epithelioid sarcomas frequently pose serious diagnostic dilemmas, being easily misdiagnosed as a variety of other malignant neoplasms. To date, the information available on the genetic alterations associated with this tumor entity has been confined to single conventional cytogenetic reports. In this article, we present the results of a conventional and molecular cytogenetic analysis of six proximal-type epithelioid sarcomas. Spectral karyotyping analysis of these cases deciphered the characteristics of several marker chromosomes and complex translocations, leading to the recognition of recurrent rearrangements. The most frequently involved chromosome arm was 22q, and the identification of two cases with a similar translocation, t(10;22), suggests a role for one or more genes on chromosome 22 in the pathogenesis of this tumor and provides an opportunity for finely mapping the translocation-associated breakpoints. Chromosome arm 8q gain was also a frequent event and correlated with gain of MYC gene copy number, as demonstrated by fluorescence in situ hybridization. A review of both cases reported in the literature and those presented in this study reinforced the involvement of chromosomes 8 and 22 and also indicated frequent rearrangements of chromosomes 7, 14, 18, and 20. (C) 2004 Wiley-Liss, Inc.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 8