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oai:repisalud.isciii.es:20.500.12105/260592025-03-17T09:27:31Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Neumann, Hartmut P H author Vortmeyer, Alexander author Schmidt, Dieter author Werner, Martin author Erlic, Zoran author Cascon Soriano, Alberto author Bausch, Birke author Januszewicz, Andrzej author Eng, Charis author 2007-09-27 The first description of pheochromocytoma in 1886 has been attributed to Felix Fränkel, who described an 18-year-old woman with bilateral adrenal "sarcoma and angio-sarcoma." We reviewed the publication and then approached and assessed relatives of the patient to update the findings with the use of current technology. In-depth review revealed that the histopathological findings were consistent with pheochromocytoma. Because the proband was young and had bilateral disease at diagnosis, we hypothesized that she had an inherited condition. The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma. N Engl J Med . 2007 Sep 27;357(13):1311-5. New England Journal of Medicine 17898100 https://hdl.handle.net/20.500.12105/26059 MUTATIONS GENE Evidence of MEN-2 in the original description of classic pheochromocytoma.