LOSS OF HETEROZYGOSITY IN THE TUBEROUS SCLEROSIS (TSC2) REGION OF CHROMOSOME BAND 16P13 OCCURS IN SPORADIC AS WELL AS TSC-ASSOCIATED RENAL ANGIOMYOLIPOMAS

被引：211

作者：

HENSKE, EP

NEUMANN, HPH

SCHEITHAUER, BW

HERBST, EW

SHORT, MP

KWIATKOWSKI, DJ

机构：

[1] BRIGHAM & WOMENS HOSP, DIV HEMATOL ONCOL, BOSTON, MA 02115 USA

[2] UNIV FREIBURG, DEPT HYPERTENS & NEPHROL, FREIBURG, GERMANY

[3] UNIV FREIBURG, DEPT PATHOL, FREIBURG, GERMANY

[4] MAYO CLIN, DIV ANAT PATHOL, ROCHESTER, MN USA

[5] MASSACHUSETTS GEN HOSP, DEPT NEPHROL, BOSTON, MA 02114 USA

来源：

GENES CHROMOSOMES & CANCER | 1995年 / 13卷 / 04期

关键词：

D O I：

10.1002/gcc.2870130411

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 1 bp 13 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.

引用

页码：295 / 298

页数：4

共 15 条

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