Evidence of MEN-2 in the original description of classic pheochromocytoma.
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.
Neumann
Hartmut P H
HP
Department of Nephrology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany. hartmut.neumann@uniklinik-freiburg.de
Vortmeyer
Alexander
A
Schmidt
Dieter
D
Werner
Martin
M
Erlic
Zoran
Z
Cascon
Alberto
A
Bausch
Birke
B
Januszewicz
Andrzej
A
Eng
Charis
C
D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000266:history*; D018276:Carcinoma, Medullary / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D049672:History, 19th Century; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000266:history; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics / Q000266:history*; D013964:Thyroid Neoplasms / Q000235:genetics