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Heterogeneous genetic profiles in soft tissue myoepitheliomas

ABSTRACT: Myoepithelioma, mixed tumor and parachordoma are rare soft tissue tumors thought to represent different morphologic variants of the same family of tumors, hereafter referred to as MMP tumors. The genetic basis of these neoplasms is poorly investigated. However, they morphologically resemble mixed tumor of the salivary glands (a.k.a. pleomorphic adenoma). This is the first study characterizing whole genome DNA copy number changes in MMP tumors and the genomic imbalances detected in four MMP tumors and one pleomorphic adenoma were diverse. The only recurrent aberration of known importance for tumor development was homo- and heterozygous deletions of the region in 9p21-22 which harbors the CDKN2A and CDKN2B genes. Defined by the deletion in case 3, the region 1.27-4.82 Mb on chromosome 19 was heterozygously lost in all cases, including the pleomorphic adenoma. A complex pattern of aberrations was seen in the primary tumor of case 2 with amplifications, interrupted by normal copy numbers and losses, of regions on chromosomes 6, 9, and 13. Keywords: comparative genomic hybridization, soft tissue myoepithelioma, mixed tumor, parachordoma, pleomorphic adenoma

ORGANISM(S): Homo sapiens

PROVIDER: GSE10266 | GEO | 2008/07/14

SECONDARY ACCESSION(S): PRJNA108463

REPOSITORIES: GEO

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Project description:Soft tissue sarcomas are a diverse set of fatal human tumors where few agents have demonstrable clinical efficacy, with the standard therapeutic combination of doxorubicin and ifosfamide showing only a 25-30% response rate in large multi-institutional trials. Although liposarcomas are the most common histological form of adult soft tissue sarcomas, research in this area is severely hampered by the lack of experimentally tractable in vitro model systems. To this end, here we describe a novel in vitro model for human pleomorphic liposarcoma. The cell line (LS2) is derived from a pleomorphic liposarcoma that utilizes Alternative Lengthening of Telomeres (ALT) mechanism of telomere maintenance, which may be particularly important in modulating the response of this tumor type to DNA damaging agents. We present detailed baseline molecular and genomic data, including genome wide copy number and transcriptome profiles, for this model compared to its parental tumor and a panel of liposarcomas covering multiple histologies. The model has retained essentially all of the detectable alterations in copy number that are seen in the parental tumor, and shows molecular karyotypic and expression profiles consistent with pleomorphic liposarcomas. We also demonstrate the utility of this model, together with two additional human liposarcoma cell lines, to investigate the relationship between topoisomerase 2A expression and the sensitivity of ALT-positive liposarcomas to doxorubicin. This model, together with its associated baseline data, provide a powerful new tool to develop treatments for this clinically poorly-tractable tumor, and to investigate the contribution that ALT makes to modulating sensitivity to DNA damaging chemotherapeutic agents such as doxorubicin. Affymetrix U133 2.0 expression analyses were performed for 30 liposarcoma tumors, including 2 recurrences of 2 tumors. In addition, analyses were performed for three replicates of a tumor-derived cell line, LS2, as well as the tumor from which it was derived (5228). Finally, the Affymetrix Human Genome 50K DNA Mapping Array was used to determine copy number profiles for two Passages of LS2, as well as tumor 5228.

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Heterogeneous genetic profiles in soft tissue myoepitheliomas

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