Rueckert Justin, Devitt Katherine, Kalof Alexandra, Gardner Juli-Anne
Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington.
J Assoc Genet Technol. 2018;44(2):45-48.
Lipoblastomas are benign tumors composed of fat cells of varying degrees of maturation, from lipoblasts to mature adipocytes. These tumors typically affect young children under the age of three. Upregulation of the pleomorphic adenoma gene 1 (PLAG1), located on 8q12.1, is the primary driving force for lipoblastoma development. The most common mechanisms for PLAG1 upregulation are rearrangements of 8q11-13 and polysomy 8. We present a unique case of lipoblastoma in a three-year-old boy with a ring chromosome 8. To the best of our knowledge, this cytogenetic finding has only been described three times in the literature. We present this case to further document this rare cytogenetic abnormality in lipoblastomas and hypothesize that the formation of a ring 8 chromosome results in a promoter swapping event.
脂肪母细胞瘤是由从脂肪母细胞到成熟脂肪细胞等不同成熟程度的脂肪细胞组成的良性肿瘤。这些肿瘤通常影响三岁以下的幼儿。位于8q12.1的多形性腺瘤基因1（PLAG1）上调是脂肪母细胞瘤发生的主要驱动力。PLAG1上调的最常见机制是8q11 - 13重排和8号染色体多体性。我们报告了一例三岁男孩患脂肪母细胞瘤且伴有8号环状染色体的独特病例。据我们所知，这一细胞遗传学发现仅在文献中被描述过三次。我们展示此病例以进一步记录脂肪母细胞瘤中这种罕见的细胞遗传学异常，并推测8号环状染色体的形成导致了启动子交换事件。
