Epithelioid sarcoma or malignant rhabdoid tumor of soft tissue? Epithelioid immunophenotype and rhabdoid karyotype

Molenaar, W.M.; Dejong, B; Dam-Meiring, A.; Postma, A.; DeVries, John; Hoekstra, H. J.

doi:10.1016/0046-8177(89)90044-0

Cited by 46 publications

(19 citation statements)

References 20 publications

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“…Conventional cytogenetic studies of epithelioid sarcoma revealed complex karyotypes with various chromosome deletions and gains, but the only recurrent breakpoints in structural rearrangements were 18q11 and 22q11 in two cases each (16)(17)(18)(19)(20)(21)(22)(23)(24)(25). Spectral karyotyping (SKY) analysis of six PES revealed the presence of 11 rearrangements on chromosome 22q in five of the six cases analyzed, with two cases showing a similar t (10,22) translocation (26).…”

Section: Introductionmentioning

confidence: 99%

SMARCB1/INI1 Tumor Suppressor Gene Is Frequently Inactivated in Epithelioid Sarcomas

et al. 2005

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Epithelioid sarcoma is a rare soft tissue neoplasm of uncertain lineage that usually arises in the distal extremities of adults, presents a high rate of recurrences and metastases and frequently poses diagnostic dilemmas. The recently reported large-cell ''proximal-type'' variant is characterized by increased aggressiveness, deep location, preferential occurrence in proximal/axial regions of older patients, and rhabdoid features. Previous cytogenetic studies indicated that the most frequent alterations associated with this tumor entity affect chromosome 22. In this study, combined spectral karyotyping, fluorescence in situ hybridization, and array-based comparative genomic hybridization analyses of two proximal-type cases harboring a rearrangement involving 10q26 and 22q11 revealed that the 22q11 breakpoints were located in a 150-kb region containing the SMARCB1/INI1 gene, and that homozygous deletion of the gene was present in the tumor tissue. The SMARCB1/INI1 gene encodes for an invariant subunit of SWI/ SNF chromatin remodeling complex and has been previously reported to act as a tumor suppressor gene frequently inactivated in infantile malignant rhabdoid tumors. We analyzed SMARCB1/INI1 gene status in nine additional epithelioid sarcoma cases ( four proximal types and five conventional types) and altogether we identified deletions of SMARCB1/INI1 gene in 5 of 11 cases, all proximal types. We confirmed and further extended the number of cases with SMARCB1/INI1 inactivation to 6 of 11 cases, by real-time quantitative PCR analysis of mRNA expression and by SMARCB1/INI1 immunohistochemistry. Overall, these results point to SMARCB1/INI1 gene involvement in the genesis and/ or progression of epithelioid sarcomas. Analysis of larger series of epithelioid sarcomas will be necessary to highlight putative clinically relevant features related to SMARCB1/INI1 inactivation. (Cancer Res 2005; 65(10): 4012-9)

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Section: Introductionmentioning

confidence: 99%

SMARCB1/INI1 Tumor Suppressor Gene Is Frequently Inactivated in Epithelioid Sarcomas

et al. 2005

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“…2E and F). Figure 3 displays the numerical as well as structural abnormalities observed in ES, as derived from the present study (six cases) and from a review of reports in the literature (10 cases; Molenaar et al, 1989;Stenman et al, 1990;Dal Cin et al, 1991;Cordoba et al, 1994;Kusakabe et al, 1994;Iwasaki et al, 1996;Sonobe et al, 1997;Gisselsson et al, 1999;Debiec-Rychter et al, 2000;Feely et al, 2000), including eight proximally located tumors, seven distally located tumors, and one tumor whose location was not reported. The most frequently involved chromosome was chromosome 22, which was lost in four cases and was implicated in 13 rearrangements, of which 6 mapped to the q11 band, in eight cases.…”

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confidence: 85%

“…To our knowledge, conventional cytogenetic studies of ES so far have been reported for 13 primary or metastatic tumors, 2 of which had a normal karyotype (Molenaar et al, 1989;Stenman et al, 1990;Dal Cin et al, 1991Cordoba et al, 1994;Kusakabe et al, 1994;Iwasaki et al, 1996;Sonobe et al, 1997;Gisselsson et al, 1999;DebiecRychter et al, 2000;Feely et al, 2000). Complex karyotypes with various chromosome deletions and gains but without recurrent chromosomal rearrangements were found in the remaining 11 tumors (six distally located, four proximally located, and one with unreported location): ϩ8 in four cases (proximally located), of which three had i(8q); ϩ20 in three tumors (two proximally and one distally located); and Ϫ22/22qϪ in three tumors (one distally, one proximally located, and one with unreported location).…”

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confidence: 99%

Molecular cytogenetic characterization of proximal‐type epithelioid sarcoma

Lualdi

Modena

Dębiec‐Rychter

et al. 2004

Genes Chromosomes & Cancer

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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.

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“…A rhabdoid tumor is derived from cells with ample eosinophilic cytoplasm that resemble skeletal muscle tumor cells. However, a myogenous origin can be excluded by ultrastructural findings [3,4]. There are 39 patients listed with MRT, both of the kidney and extrarenal sites, in the pediatric reference tumor registry of the university of Kiel-36% of patients aged less than 1 year, and 82% aged less than 5 years at diagnosis.…”

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confidence: 98%