Tokyo Medical and Dental University (TMDU) Reports Findings in Pheochromocytoma (Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL).

A recent report from Tokyo Medical and Dental University (TMDU) discusses the case of a 7-year-old boy with bilateral pheochromocytoma, a rare neuroendocrine tumor. The boy's father also had bilateral pheochromocytomas at a young age. Both individuals had a novel in-frame duplication variant of the VHL gene, which is associated with von Hippel-Lindau disease. The study suggests that these in-frame duplications may cause pheochromocytomas in a similar way to missense variants. The researchers emphasize the importance of genetic analysis in diagnosing childhood-onset pheochromocytoma. [Extracted from the article]