Henske E P, Neumann H P, Scheithauer B W, Herbst E W, Short M P, Kwiatkowski D J
Division of Experimental Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Genes Chromosomes Cancer. 1995 Aug;13(4):295-8. doi: 10.1002/gcc.2870130411.
Angiomyolipomas (AMLs) are renal tumors that occur both sporadically and in association with tuberous sclerosis (TSC). TSC is an autosomal dominant disorder characterized by hamartomatous lesions in multiple organs. Two TSC loci are recognized: TSC1 on 9q34 and TSC2 on 16p13. Loss of heterozygosity (LOH) at the TSC1 and TSC2 loci in lesions from TSC patients has recently been reported. Lesions that are not associated with TSC have not been previously examined for LOH at the TSC loci. We analyzed 29 renal angiomyolipomas from patients without a history of TSC. Three tumors demonstrated LOH on 16p13. This is the first report indicating that mutations in TSC2 occur in tumors of patients who do not have TSC. We also found LOH on 16p13 in 5 of 8 TSC-associated AMLs. Two of these tumors were from a single patient and demonstrated different regions of LOH. These findings support the hypothesis that the TSC2 gene functions as a tumor suppressor.
血管平滑肌脂肪瘤（AMLs）是一种既可以散发性出现，也可与结节性硬化症（TSC）相关联的肾肿瘤。TSC是一种常染色体显性疾病，其特征为多个器官出现错构瘤性病变。已确认有两个TSC基因座：位于9q34的TSC1和位于16p13的TSC2。最近有报道称，TSC患者病变中的TSC1和TSC2基因座存在杂合性缺失（LOH）。此前尚未对与TSC无关的病变进行TSC基因座的LOH检测。我们分析了29例无TSC病史患者的肾血管平滑肌脂肪瘤。3个肿瘤在16p13处显示出LOH。这是首份表明TSC2突变发生在无TSC患者肿瘤中的报告。我们还在8例与TSC相关的AML中的5例中发现了16p13处的LOH。其中2个肿瘤来自同一名患者，并显示出不同的LOH区域。这些发现支持了TSC2基因作为肿瘤抑制基因发挥作用的假说。
