Fletcher J A, Kozakewich H P, Schoenberg M L, Morton C C
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115.
Genes Chromosomes Cancer. 1993 Jan;6(1):24-9. doi: 10.1002/gcc.2870060106.
Characteristic cytogenetic aberrations have been reported in adult lipomas and liposarcomas, but few karyotypes have been reported for pediatric adipose neoplasms. In this report we describe a consistent rearrangement, der(8)(pter-->q13::q24.1-->qter), in 2 of 3 lipoblastomas. A similar der(8) was present in the only other published lipoblastoma karyotype, but this der(8) has not been reported in lipomas, liposarcomas, or nonadipose solid tumors. We investigated the potential specificity of der(8)(pter-->q13::q24.1-->qter) by karyotyping an unselected series of nonlipoblastoma adipose tumors in children and young adults. The series included 14 lipomas, 2 atypical lipomas ("well-differentiated liposarcomas"), and 2 angiomyolipomas; der(8) was not found in any tumor from this series. Three lipomas, however, contained rearrangements in the region of chromosome band 12q14, as has been described frequently in adult lipomas. Because clinical features in lipoblastoma can mimic those in liposarcoma, recognition of der(8)(pter-->q13::q24.1--qter) is of potential diagnostic relevance.
已有报道称在成人脂肪瘤和脂肪肉瘤中存在特征性细胞遗传学畸变,但有关儿童脂肪肿瘤的核型报道却很少。在本报告中,我们描述了3例脂肪母细胞瘤中的2例存在一种一致的重排,即der(8)(pter→q13::q24.1→qter)。在另一篇已发表的脂肪母细胞瘤核型中也存在类似的der(8),但在脂肪瘤、脂肪肉瘤或非脂肪实体瘤中尚未见此der(8)的报道。我们通过对一系列未选择的儿童和年轻成人非脂肪母细胞瘤性脂肪肿瘤进行核型分析,研究了der(8)(pter→q13::q24.1→qter)的潜在特异性。该系列包括14例脂肪瘤、2例非典型脂肪瘤(“高分化脂肪肉瘤”)和2例血管平滑肌脂肪瘤;该系列中的任何肿瘤均未发现der(8)。然而,有3例脂肪瘤在染色体带12q14区域存在重排,这在成人脂肪瘤中已有频繁报道。由于脂肪母细胞瘤的临床特征可与脂肪肉瘤相似,因此识别der(8)(pter→q13::q24.1→qter)具有潜在的诊断意义。