Duplication of chromosome segment 12q13-15 in a lipomatous tumor with minimal nuclear atypia: A case report

Nishio,Jun; Iwasaki,Hiroshi; Shibata,Terufumi; Nabeshima,Kazuki; Naito,Masatoshi

doi:10.3892/ol.2016.4305

April-2016 Volume 11 Issue 4

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April-2016 Volume 11 Issue 4

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Case Report

Duplication of chromosome segment 12q13-15 in a lipomatous tumor with minimal nuclear atypia: A case report

Authors:
- Jun Nishio
- Hiroshi Iwasaki
- Terufumi Shibata
- Kazuki Nabeshima
- Masatoshi Naito
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Affiliations: Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka 814‑0180, Japan, Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka 814‑0180, Japan
Pages: 2875-2878
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Published online on: March 7, 2016

https://doi.org/10.3892/ol.2016.4305
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Abstract

Ordinary lipoma is cytogenetically characterized by structural rearrangements, particularly translocations, of 12q13-15. By contrast, atypical lipomatous tumors exhibit supernumerary ring or giant marker chromosomes that are composed mainly of amplified material from the 12q13-15 chromosome segment. The present study describes the cytogenetic and molecular cytogenetic findings from a lipomatous tumor with minimal nuclear atypia that was identified in a 49-year-old female patient. Magnetic resonance imaging of the right shoulder revealed a 13-cm fatty mass in the subcutaneous layer that possessed only pencil-line septa. Contrast‑enhanced fat-suppressed T1‑weighted images demonstrated faint enhancement. A marginal excision was performed. Histologically, the tumor was composed of lobules that consisted of mature adipocytes separated by thin fibrous septa. There was minimal nuclear atypia in certain cells, and a small number of binucleated cells were also observed within the tumor. Immunohistochemically, the tumor cells did not reveal the expression of murine double‑minute 2 (MDM2). Cytogenetic analysis revealed a complex karyotype with several numerical and structural alterations, including 12q rearrangements. Spectral karyotyping demonstrated a duplication of chromosome segment 12q13‑15. Interphase fluorescence in situ hybridization analysis revealed no MDM2 gene amplification. The present case indicates that duplication of 12q may be associated with minimal nuclear atypia in a subset of lipomatous tumors.

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