一例罕见的伴有t(9;12)(p22;q14)且有HMGA2-NFIB基因融合证据的小儿脂肪瘤。
A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion.
作者信息
Lacaria Melanie, El Demellawy Dina, McGowan-Jordan Jean
机构信息
Genetics Department, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Pediatric Pathology Department, Children's Hospital of Eastern Ontario, Ottawa, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada.
出版信息
Cancer Genet. 2017 Oct;216-217:100-104. doi: 10.1016/j.cancergen.2017.07.011. Epub 2017 Aug 9.
Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often lead to the fusion of the HMGA2 gene at this locus to the transcriptional regulatory domain of its fusion partner, resulting in neomorphic activity that presumably facilitates the neoplastic process. Herein, we report a rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion in a 9 year-old boy. This case provides further evidence of the link between NFIB rearrangement and early-onset, deep-seated lipomatous tumors.
脂肪瘤是一种良性肿瘤，通常发生于成年人，具有特征性的细胞遗传学表现，包括12q13-15重排；这些重排常导致该位点的HMGA2基因与融合伴侣的转录调控域融合，产生新的活性，推测这促进了肿瘤形成过程。在此，我们报告一例9岁男孩患有的罕见小儿脂肪瘤，其具有t(9;12)(p22;q14)以及HMGA2-NFIB基因融合的证据。该病例进一步证明了NFIB重排与早发性深部脂肪瘤之间的联系。
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