Screening for MEN1 mutations in patients with atypical endocrine neoplasia.
BACKGROUND
Most patients from typical multiple endocrine neoplasia type 1 (MEN1) kindreds harbor mutations in the MEN-1 gene, MEN1. We hypothesized that some patients with atypical endocrine neoplasia would also have mutations in MEN1.


METHODS
DNA sequencing analysis of mutations in the coding region of MEN1 was performed with genomic DNA obtained from peripheral blood lymphocytes in a total of 21 patients who had: typical MEN1 (n = 8), clinical features suggestive of MEN1 but without a family history of endocrinopathy (n = 7), and atypical endocrine neoplasia and a family history of endocrinopathy suggestive of MEN1 (n = 6).


RESULTS
All 8 patients with typical MEN1 had mutations in MEN1. None of the 7 patients with features of MEN1, but without a family history of endocrinopathy, had a MEN1 mutation. In contrast, 4 of 6 patients with atypical endocrine neoplasia that included components of MEN1 and a family history of endocrinopathy had mutations in MEN1, including 2 patients with pheochromocytoma.


CONCLUSIONS
Genomic mutations in MEN1 may frequently be identified in patients with atypical endocrine neoplasia, especially in the setting of a family history of endocrinopathy. Atypical presentations of MEN1 may include pheochromocytoma.
Dackiw
A P
AP
Department of Surgical Oncology, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
Cote
G J
GJ
Fleming
J B
JB
Schultz
P N
PN
Stanford
P
P
Vassilopoulou-Sellin
R
R
Evans
D B
DB
Gagel
R F
RF
Lee
J E
JE
D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D011859:Radiography; D015183:Restriction Mapping
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins