Tuberous Sclerosis Associated with Multiple Hepatic Lipomatous Tumors and Hemorrhagic Renal Angiomyolipoma.

Shoji, Hirokazu; Koide, Naoki; Ogawa, H.; Ujike, Kozo; Shinji, Toshiyuki; Tsuji, Takao

doi:10.2169/internalmedicine.38.345

Cited by 24 publications

(14 citation statements)

References 15 publications

(11 reference statements)

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“…Furthermore, levels of Cyr61 are highest in breast cancers that are at an advanced stage at the time of diagnosis (14). However, Cyr61 levels are not increased or are decreased in hepatomas, leiomyomas, and prostate cancers (13,19,24).…”

Section: Discussionmentioning

confidence: 99%

Cyr61, a Member of CCN Family, Is a Tumor Suppressor in Non-Small Cell Lung Cancer

Tong

Xie

O’Kelly

et al. 2001

Journal of Biological Chemistry

122

110

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Section: Discussionmentioning

confidence: 99%

Cyr61, a Member of CCN Family, Is a Tumor Suppressor in Non-Small Cell Lung Cancer

Tong

Xie

O’Kelly

et al. 2001

Journal of Biological Chemistry

122

110

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“…The incidence of tuberous sclerosis with hepatic AML is only about 6 to 10% (2,18) and the majority of the hepatic lesions are solitary. Truly multiple AMLs (more than two lesions) along with multiple renal AMLs have only been described in patients with tuberous sclerosis (2,10,11). Two patients, each with two hepatic AMLs, have been reported from Japan without any clinical evidence of tuberous sclerosis (12,13).…”

Section: Discussionmentioning

confidence: 99%

“…Most hepatic AMLs are solitary tumors. Multiple AMLs are uncommon and usually occur in tuberous sclerosis patients (2,10,11). There have been only two reported cases of multiple hepatic AMLs in patients without tuberous sclerosis (12,13); both patients were Japanese and each had only two hepatic lesions.…”

mentioning

confidence: 99%

Multiple Angiomyolipomata of the Liver: A Case Report

et al. 2002

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Angiomyolipoma (AML) is a rare benign tumor that occurs most commonly in the kidney. Occasionally it may be found in the liver. Lesions in the liver are usually solitary. Multiple AMLs are extremely rare and are typically seen in patients with tuberous sclerosis. We now report an unusual case of a 46-year-old woman with multiple hepatic AMLs. There were more than 15 lesions distributed predominantly in the right hepatic lobe. The tumors ranged from 0.2 to 6 cm in size and consisted of a variable admixture of proliferating blood vessels, adipose tissue, and smooth muscle. There was no clinical evidence of tuberous sclerosis in this patient. Polymerase chain reaction amplification of the highly polymorphic human androgen receptor gene (HU-MARA) was performed and the pattern of X chromosome inactivation was analyzed. Three of the five representative AML nodules showed a preferential loss of one of the two HUMARA alleles indicating a clonal proliferation with involvement of different alleles. Histologic examination of the corresponding lesions showed clonal lesions to be predominantly composed of epithelioid myoid cells while the polyclonal lesions were predominantly composed of adipose tissue. While the histologic diagnosis of AML in a surgical resection specimen is often straightforward, the radiographic, cytologic and intraoperative interpretation of a case with multiple lesions presents a considerable challenge.

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“…Angiomyolipoma of the adrenal gland, thyroid adenoma, pancreatic islet cell adenoma, pituitary adenoma, angiomyolipoma of the testes, hyperparathyroidism, and hypothalamic/pituitary/ gonadal abnormalities resulting in precocious puberty have all been reported in patients afflicted with TSC (22). Furthermore, there have been rare reports of tumors and hamartomatas associated with TSC in other organs, including liver and intestine (23)(24)(25)(26)(27).…”

Section: Discussionmentioning

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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Tuberous Sclerosis Associated with Multiple Hepatic Lipomatous Tumors and Hemorrhagic Renal Angiomyolipoma.

Cited by 24 publications

References 15 publications

Cyr61, a Member of CCN Family, Is a Tumor Suppressor in Non-Small Cell Lung Cancer

Cyr61, a Member of CCN Family, Is a Tumor Suppressor in Non-Small Cell Lung Cancer

Multiple Angiomyolipomata of the Liver: A Case Report

Hamartin and Tuberin Expression in Human Tissues

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