Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome
| Autor: | Izumi Matsumoto, Kohji Tanaka, Okio Hino, Mami Kouchi, Kazuo Okimoto, Masashi Yasuba |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adenoma
Male Pathology medicine.medical_specialty Fibrofolliculoma Biology urologic and male genital diseases Birt–Hogg–Dubé syndrome Rats Mutant Strains Salivary Glands Pathology and Forensic Medicine Renal neoplasm Heart Neoplasms Germline mutation Renal cell carcinoma medicine Animals Humans Molecular Biology Carcinoma Renal Cell Germ-Line Mutation Hematologic Tests Body Weight Genetic Diseases Inborn Autosomal dominant trait Proteins Cell Biology General Medicine medicine.disease Rhabdomyoma Kidney Neoplasms Endometrial Neoplasms Rats Disease Models Animal Phenotype Endometrial Hyperplasia Female Clear cell Blood Chemical Analysis |
| Zdroj: | Virchows Archiv : an international journal of pathology. 448(4) |
| ISSN: | 0945-6317 |
| Popis: | In the Nihon rat, an established model of hereditary renal cell carcinoma (RCC), the propensity for tumor development, is inherited as an autosomal dominant trait due to a single germline nucleotide insertion mutation in the rat Bhd ortholog. The Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant disease characterized by fibrofolliculoma, pulmonary cysts, spontaneous pneumothorax, and renal neoplasm. The renal lesions of the Nihon rat are characterized, and extrarenal lesions are also described in this work. The earliest lesion of the RCC was identified as an altered tubule at as early as 3 weeks of age and rapidly progressed through adenoma to carcinoma with the primary cell type being clear/acidophilic where some similarities were evident to RCCs in BHD syndrome. The Nihon rats demonstrate a heterotopic ossification within RCCs and three extrarenal lesions, clear cell hyperplasia/adenoma of the endometrium, clear cell change of the epithelium of striated portions of salivary glands, and cardiac rhabdomyomatosis. This rat model of hereditary RCC provides a useful tool for analyzing the series of events leading to renal tumorigenesis and for studying BHD gene functions. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink