Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 357, Issue 13, Pages 1311-1315Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa071407
Keywords
-
Categories
Funding
- NICHD NIH HHS [R01HD39058-01S1, R01HD39058-01] Funding Source: Medline
Ask authors/readers for more resources
The first description of pheochromocytoma in 1886 has been attributed to Felix Frankel, 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available