Familial pulmonary carcinoid tumors.
BACKGROUND
Pulmonary carcinoid tumors are rare and usually occur sporadically. Infrequently, they arise in association with multiple endocrine neoplasia type 1 (MEN1). Familial pulmonary carcinoid tumors not associated with MEN1 have not been described.


METHODS
Two sets of first-degree relatives diagnosed with primary pulmonary carcinoid tumors with no clinical features of MEN1 were identified in a pair of siblings and in a mother and daughter. Mutations in the MEN1 gene were sought using polymerase chain reaction analysis on paraffin embedded tissue from two members of one of the families.


RESULTS
Histopathologic and immunohistochemical studies confirmed the diagnoses of carcinoid tumors. None of these patients and no family members had features of MEN1. DNA analysis did not detect germline mutations in the MEN1 gene.


CONCLUSIONS
The occurrence of familial pulmonary carcinoid tumors in the absence of MEN1 suggests a novel, rare germline mutation specific to the development of pulmonary carcinoids.
Oliveira
A M
AM
Department of Laboratory Medicine and Pathology, Division of Anatomic Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota, USA.
Tazelaar
H D
HD
Wentzlaff
K A
KA
Kosugi
N S
NS
Hai
N
N
Benson
A
A
Miller
D L
DL
Yang
P
P
D000328:Adult; D000368:Aged; D002276:Carcinoid Tumor / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009363:Neoplasm Proteins / Q000032:analysis; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins
D004273:DNA, Neoplasm; C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins