Brief report: Evidence of MEN-2 in the original description of classic pheochromocytoma

Hartmut P.H. Neumann, Alexander Vortmeyer, Dieter Schmidt, Martin Werner, Zoran Erlic, Alberto Cascon, Birke Bausch, Andrzej Januszewicz, Charis Eng

Research output: Contribution to journalArticle

71 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1311-1315
Number of pages5
JournalNew England Journal of Medicine
Volume357
Issue number13
DOIs
StatePublished - Sep 27 2007
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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    Neumann, H. P. H., Vortmeyer, A., Schmidt, D., Werner, M., Erlic, Z., Cascon, A., Bausch, B., Januszewicz, A., & Eng, C. (2007). Brief report: Evidence of MEN-2 in the original description of classic pheochromocytoma. New England Journal of Medicine, 357(13), 1311-1315. https://doi.org/10.1056/NEJMoa071407