Molecular cytogenetic characterization of proximal-type epithelioid sarcoma

Elena Lualdi, Piergiorgio Modena, Maria Debiec-Rychter, Florence Pedeutour, Manuel R. Teixeira, Federica Facchinetti, Gian Paolo Dagrada, Silvana Pilotti, Gabriella Sozzi

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)283-290
Number of pages8
JournalGenes Chromosomes and Cancer
Volume41
Issue number3
DOIs
Publication statusPublished - Nov 2004

Fingerprint

Cytogenetics
Sarcoma
Chromosomes, Human, Pair 22
Neoplasms
Spectral Karyotyping
Chromosomes
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 7
Gene Dosage
Cytogenetic Analysis
Diagnostic Errors
Fluorescence In Situ Hybridization
Genetic Markers
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Lualdi, E., Modena, P., Debiec-Rychter, M., Pedeutour, F., Teixeira, M. R., Facchinetti, F., ... Sozzi, G. (2004). Molecular cytogenetic characterization of proximal-type epithelioid sarcoma. Genes Chromosomes and Cancer, 41(3), 283-290. https://doi.org/10.1002/gcc.20086

Molecular cytogenetic characterization of proximal-type epithelioid sarcoma. / Lualdi, Elena; Modena, Piergiorgio; Debiec-Rychter, Maria; Pedeutour, Florence; Teixeira, Manuel R.; Facchinetti, Federica; Dagrada, Gian Paolo; Pilotti, Silvana; Sozzi, Gabriella.

In: Genes Chromosomes and Cancer, Vol. 41, No. 3, 11.2004, p. 283-290.

Research output: Contribution to journalArticle

Lualdi, E, Modena, P, Debiec-Rychter, M, Pedeutour, F, Teixeira, MR, Facchinetti, F, Dagrada, GP, Pilotti, S & Sozzi, G 2004, 'Molecular cytogenetic characterization of proximal-type epithelioid sarcoma', Genes Chromosomes and Cancer, vol. 41, no. 3, pp. 283-290. https://doi.org/10.1002/gcc.20086
Lualdi E, Modena P, Debiec-Rychter M, Pedeutour F, Teixeira MR, Facchinetti F et al. Molecular cytogenetic characterization of proximal-type epithelioid sarcoma. Genes Chromosomes and Cancer. 2004 Nov;41(3):283-290. https://doi.org/10.1002/gcc.20086
Lualdi, Elena ; Modena, Piergiorgio ; Debiec-Rychter, Maria ; Pedeutour, Florence ; Teixeira, Manuel R. ; Facchinetti, Federica ; Dagrada, Gian Paolo ; Pilotti, Silvana ; Sozzi, Gabriella. / Molecular cytogenetic characterization of proximal-type epithelioid sarcoma. In: Genes Chromosomes and Cancer. 2004 ; Vol. 41, No. 3. pp. 283-290.
@article{25e19060be204ecb8d22c100a10ed775,
title = "Molecular cytogenetic characterization of proximal-type epithelioid sarcoma",
abstract = "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.",
author = "Elena Lualdi and Piergiorgio Modena and Maria Debiec-Rychter and Florence Pedeutour and Teixeira, {Manuel R.} and Federica Facchinetti and Dagrada, {Gian Paolo} and Silvana Pilotti and Gabriella Sozzi",
year = "2004",
month = "11",
doi = "10.1002/gcc.20086",
language = "English",
volume = "41",
pages = "283--290",
journal = "Genes Chromosomes and Cancer",
issn = "1045-2257",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Molecular cytogenetic characterization of proximal-type epithelioid sarcoma

AU - Lualdi, Elena

AU - Modena, Piergiorgio

AU - Debiec-Rychter, Maria

AU - Pedeutour, Florence

AU - Teixeira, Manuel R.

AU - Facchinetti, Federica

AU - Dagrada, Gian Paolo

AU - Pilotti, Silvana

AU - Sozzi, Gabriella

PY - 2004/11

Y1 - 2004/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=4644309912&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4644309912&partnerID=8YFLogxK

U2 - 10.1002/gcc.20086

DO - 10.1002/gcc.20086

M3 - Article

VL - 41

SP - 283

EP - 290

JO - Genes Chromosomes and Cancer

JF - Genes Chromosomes and Cancer

SN - 1045-2257

IS - 3

ER -