Vinaitheerthan M, Wei J, Mizuguchi M, Greco A, Barness E Gilbert
Department of Pathology, University of South Florida School of Medicine, Tampa General Hospital, P.O. Box 1289, Tampa, FL 33601, USA.
Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):241-9. doi: 10.1080/15227950490923606.
Tuberous sclerosis complex (TSC) is a common autosomal dominant disorder in which affected patients develop a wide variety of benign and malignant tumors. We report here on a 31-week gestational age fetus with pathological features of TSC. Developmental expression of hamartin and tuberin in various tissues was studied using immunohistochemistry. There was loss of expression of hamartin in the tuber and weak expression of the tuberin. Both hamartin and tuberin were expressed in bronchial epithelial cells, cardiac muscles, renal collecting tubules, and neural tissues. The rhabdomyomas stained negatively for tuberin and hamartin. Two genetic loci are responsible for TSC-TSCI and TSC2. The TSC1 gene on chromosome 9 encodes a protein termed hamartin that lacks sequence similarity to any known proteins, whereas the TSC2 gene on chromosome 16 codes for a protein termed tuberin. These results indicate that tuberin and hamartin may play a critical role in development and thus provide a framework for understanding the developmental and hamartomatous manifestations of tuberous sclerosis.
结节性硬化症（TSC）是一种常见的常染色体显性疾病，患病患者会出现多种良性和恶性肿瘤。我们在此报告一例孕31周具有TSC病理特征的胎儿。采用免疫组织化学方法研究了错构瘤蛋白和结节蛋白在不同组织中的发育表达情况。在结节中错构瘤蛋白表达缺失，结节蛋白表达较弱。错构瘤蛋白和结节蛋白在支气管上皮细胞、心肌、肾集合小管和神经组织中均有表达。横纹肌瘤中结节蛋白和错构瘤蛋白染色均为阴性。两个基因位点与TSC相关——TSC1和TSC2。9号染色体上的TSC1基因编码一种名为错构瘤蛋白的蛋白质，该蛋白与任何已知蛋白质均无序列相似性，而16号染色体上的TSC2基因编码一种名为结节蛋白的蛋白质。这些结果表明，结节蛋白和错构瘤蛋白可能在发育过程中起关键作用，从而为理解结节性硬化症的发育和错构瘤表现提供了一个框架。
