Somers Gino R, Teshima Ikuko, Nasr Ahmed, Cook Anthony, Khoury Antoine E, Taylor Glenn P
Division of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Arch Pathol Lab Med. 2004 Jul;128(7):797-800. doi: 10.5858/2004-128-797-ILWACK.
Lipoblastoma is a tumor of adipose tissue that usually occurs in young children. Most lipoblastomas occur on the extremities, trunk, and head and neck, and most have rearrangements of the 8q region. We describe a lipoblastoma in a 12-month-old boy who presented with a rapidly enlarging scrotal mass. Electron microscopy revealed features consistent with immature adipocytes, and cytogenetic analysis revealed the following karyotype: 57,XY,+4,+6,+7,der(8)t(8;12) (q22;q13), +der(8)t(8;12) (q22;q13), +9,+10,+12,-16,+17,+der(18)t(8;18)(q22;q23),+19,+20. Interestingly, the breakpoint on chromosome 12 (q13) is the same as that seen in lipoblastomas. To our knowledge, this is the first reported case of such a complex karyotype in lipoblastoma and adds to the expanding list of karyotypic abnormalities seen in such tumors.
脂肪母细胞瘤是一种通常发生于幼儿的脂肪组织肿瘤。大多数脂肪母细胞瘤发生于四肢、躯干以及头颈部,且大多数存在8q区域重排。我们描述了一名12个月大的男孩,其患有脂肪母细胞瘤,表现为阴囊肿物迅速增大。电子显微镜检查显示出与未成熟脂肪细胞一致的特征,细胞遗传学分析显示核型如下:57,XY,+4,+6,+7,der(8)t(8;12)(q22;q13), +der(8)t(8;l2)(q22;q13), +9,+10,+12,-16,+17,+der(18)t(8;18)(q22;q23),+19,+20。有趣的是,12号染色体上的断点(q13)与脂肪母细胞瘤中所见的断点相同。据我们所知,这是脂肪母细胞瘤中首次报道的具有如此复杂核型的病例,并且增加了此类肿瘤中所见核型异常的清单。