Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

Roach, E. Steven; Smith, Moyra; Huttenlocher, Peter R.; Bhat, Mohandes; Alcorn, Deborah M.; Hawley, Louise A.

doi:10.1177/088307389200700219

Cited by 203 publications

(77 citation statements)

References 6 publications

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“…Common hamartomas associated with TSC include facial angiofibroma, cerebral cortical tuber, subependymal nodules, and giant-cell astrocytomas (SEGAs); retinal astrocytoma, cardiac rhabdomyoma, and renal angiomyolipoma (1,2). Individuals with TSC are at high risk for developing renal tumors, including renal cell carcinoma and angiomyolipoma, early in life (3).…”

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confidence: 99%

Hamartin and Tuberin Expression in Human Tissues

et al. 2001

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Tuberous sclerosis (TSC) is a bigenic autosomal dominant disease caused by mutations in one of two tumor-suppressor genes, TSC1 and TSC2, resulting in benign hamartomas and low grade neoplasms in multiple organs including brain, heart, kidney, and skin. We report the results of an immunohistochemical study of the expression of the TSC gene products, tuberin and hamartin, in multiple tissues obtained at autopsy from 12 non-TSC affected patients ranging in age from 20 weeks gestation to 8 years, and surgical specimens from some organs. Tuberin and hamartin are expressed and are colocalized in most tissues. Contrary to a previous report, immunostaining with our antisera detected hamartin in liver, small and large intestine, prostate, and testes. We did not detect significant developmental differences in tuberin or hamartin expression in comparable tissues from patients of different ages. Although tuberin and hamartin colocalize in most tissues and cell types, we provide data that hamartin is more abundantly expressed than tuberin in cells within some tissues including the distal nephron and a population of cells of the endocrine pancreas. These data support the hypothesis that hamartin and tuberin interact and may function together in many tissues where they are co-expressed, but also suggest that hamartin has a discrete and specialized function in certain cell types.

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confidence: 99%

Hamartin and Tuberin Expression in Human Tissues

et al. 2001

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“…Single-stranded conformational polymorphism (SSCP) method followed by direct sequencing was applied for mutation detection. The diagnostic criteria used were according to Gomez (7) and Roach et al (8).…”

Section: Methodsmentioning

confidence: 99%

Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations

Jóźwiak

Sontowska

Płoski

2013

Molecular Medicine Reports

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Abstract. Tuberous sclerosis (TS) is caused by mutation of the tumor suppressor genes, tuberous sclerosis complex 1 (TSC1) or 2 (TSC2). The aim of the present study was to compare the frequency and types of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations. A meta-analysis of 380 TS patients was performed. Significant differences were analyzed using the Chi-square test and one-way ANOVA analysis. Results showed a difference in frequency for the four populations analyzed. The frequency of TSC1 mutations was twice as high in the American and British populations. However, there were no significant differences in the types of mutations, with insertions of >1 nucleotide being the least frequent. Additionally, in an analysis of the complexity of nucleotide sequences it was demonstrated that the level of sequence complexity in the Polish population was significant higher compared to the remaining populations. Concerning strand bias, in the case of two types of substitutions, C>G/G>C and C>T/G>A, the ratio of corresponding mutations on the two DNA strands was approximately 3:1 and 2:1. In the present study, an increased frequency of C>G/G>C and C>T/G>A mutations in the coding strand was found in the analyzed populations. However, additional studies and larger patient cohorts are required to verify these results.

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“…Rhabdomyoma generally exhibits uniform high echo, stronger than normal myocardial echo, and are usually multiple space-occupying lesions (17,18). Rhabdomyoma may be combined with tuberous sclerosis (19) or damage to other organs, including brain, kidney and liver damage (6).…”

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confidence: 99%

Clinical value of prenatal echocardiographic examination in the diagnosis of fetal cardiac tumors

et al. 2015

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Abstract. The aim of the present study was to explore the clinical value of prenatal echocardiographic examination in the diagnosis of fetal cardiac tumors. In total, the cases of 8 fetuses with fetal cardiac tumors, which were identified by prenatal ultrasound examination in The First Affiliated Hospital of Nanchang University between January 2012 and January 2014, were retrospectively analyzed. The size, shape, location, activity and hemodynamic changes of the lesions were described in detail, and the patients were followed up. Out of the 8 identified cases of fetal cardiac tumors, 2 fetuses contained tumors only in the left ventricular cavity and 6 fetuses contained tumors of the left and right ventricular cavities, interventricular septum and apex of the heart. Overall, 5 of the 8 female patients requested termination of the pregnancy and labor was induced. The fetuses were pathologically confirmed to possess rhabdomyoma. In addition, 1 patient was followed-up for 5 weeks, and the tumor in the fetal heart cavity was found to have enlarged and developed in multiple regions when follow-up was performed. The patient then requested termination of the pregnancy and labor was induced. The fetus was pathologically confirmed to possess rhabdomyoma. The remaining 2 patients insisted on continuation of the pregnancy and the fetuses were followed up during gestation and subsequent to birth by echocardiographic examination. Prenatal echocardiography may precisely position and diagnose occupying lesions of the fetal heart, which is of considerable value in clinical decision making and instruction for treatment.

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Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

Cited by 203 publications

References 6 publications

Hamartin and Tuberin Expression in Human Tissues

Hamartin and Tuberin Expression in Human Tissues

Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations

Clinical value of prenatal echocardiographic examination in the diagnosis of fetal cardiac tumors

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