Abstract
Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16)(q13;p13) that produces a C11orf95-MKL2 fusion gene in chondroid lipoma. Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13–15 involving the MDM2, CDK4, and CPM genes is shown by FISH in these tumors. Moreover, myxoid/round cell liposarcoma is characterized by a translocation t(12;16)(q13;p11) that fuses the DDIT3 and FUS genes. This paper provides an overview of the role of conventional cytogenetics and molecular cytogenetics in the diagnosis of adipocytic tumors.
Highlights
Adipocytic tumors represent the largest group of soft tissue tumors that have been studied by cytogenetic analysis
PLAG1 rearrangement can be demonstrated by fluorescence in situ hybridization (FISH) analysis [36, 37, 41,42,43]. These findings provide a useful distinguishing feature from the cytogenetic and molecular cytogenetic aberrations found in myxoid liposarcoma and other adipocytic tumors
Mentzel et al [97] have reported that amplification of the MDM2 and CDK4 genes and rearrangements of the DDIT3 and FUS genes were detected by FISH analysis in the atypical lipomatous tumor/well differentiated liposarcoma and myxoid/round cell liposarcoma components, respectively
Summary
Adipocytic tumors represent the largest group of soft tissue tumors that have been studied by cytogenetic analysis. In 1986, the first consistent karyotypic abnormality was discovered in adipocytic tumors [1,2,3]. The diagnosis of adipocytic tumors is primarily based on clinical features and histologic patterns. Immunohistochemistry plays little role in the differential diagnosis of adipocytic tumors [4]. The use of minimally invasive biopsies to diagnose adipocytic tumors has become increasingly common, and this shift has created additional challenges. In such instances, molecular genetic testing can serve as a useful diagnostic adjunct for adipocytic tumors. Most types of adipocytic tumor have distinctive cytogenetic aberrations which can be of considerable help in diagnosis.
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