Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
| Autor: | Huseyin Demirbilek, Ayfer Alikasifoglu, Ozlem Engiz, Hartmut P.H. Neumann, Nazli Gonc, Nurgun Kandemir, Alev Ozon |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Oncology medicine.medical_specialty von Hippel-Lindau Disease Adolescent endocrine system diseases Tumor suppressor gene Retinal Neoplasms Endocrinology Diabetes and Metabolism DNA Mutational Analysis Adrenal Gland Neoplasms Pheochromocytoma Disease urologic and male genital diseases Young Adult Endocrinology Renal cell carcinoma Internal medicine medicine Humans Genetic Testing Family history Von Hippel–Lindau disease Cerebellar Neoplasms Child neoplasms Index case business.industry medicine.disease female genital diseases and pregnancy complications Hemangioblastoma Pedigree Retinal hemangioblastoma Von Hippel-Lindau Tumor Suppressor Protein Pediatrics Perinatology and Child Health Female business |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 24 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem.2011.118 |
| Popis: | Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL. |
| Databáze: | OpenAIRE |
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