Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy

Musaffe Tuna, Zhenlin Ju, Christopher I. Amos, Gordon B. Mills

    Research output: Contribution to journalArticle

    8 Scopus citations


    Background: Soft tissue sarcomas (STS) are heterogeneous mesenchymal tumors with diverse subtypes. STS can be classified into two main categories according to the type of genomic alteration: recurrent translocation driven STS, and non-recurrent translocations. However, little has known about acquired uniparental disomy in STS. Methods. In this study, we analyzed SNP microarray data to determine the frequency and distribution patterns of acquired uniparental disomy (aUPD) in major soft tissue sarcoma (STS) subtypes using CNAG and R softwares. Results: We identified recurrent aUPD regions specific to alveolar rhabdomyosarcoma with the most frequent at 11p15.4, gastrointestinal stromal tumor at 1p36.11-p35.3, leiomyosarcoma at 17p13.3-p13.1, myxofibrosarcoma at 1p35.1-p34.2 and 16q23.3-q24.1, and pleomorphic liposarcoma at 13q13.2-q13.3 and 13q14.11-q14.2. In contrast, specific recurrent aUPD regions were not identified in dedifferentiated liposarcoma, Ewing sarcoma, myxoid/round cell liposarcoma, and synovial sarcoma. Strikingly total, centromeric and segmental aUPD regions are more frequent in STS that do not exhibit recurrent translocation events. Conclusions: Our study yields a detailed map of aUPD across 9 diverse STS subtypes and suggests the potential location of several novel tumor suppressor genes and oncogenes.

    Original languageEnglish (US)
    Article number60
    JournalBMC Medical Genomics
    StatePublished - Dec 7 2012


    • Acquired uniparental disomy
    • Soft tissue sarcoma and whole-genome

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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