Familial pulmonary carcinoid tumors

• Published in: Cancer 2001-06, Vol.91 (11), p.2104-2109
• Main Authors: Oliveira, A. M., Tazelaar, Henry D., Wentzlaff, K. A., Kosugi, N. S., Hai, N., Benson, A., Miller, D. L., Yang, P.
• Format: Article
• Language: English
• Subjects: Adult; Aged; Biological and medical sciences; carcinoid; Carcinoid Tumor - genetics; carcinoma; DNA Mutational Analysis; DNA, Neoplasm - genetics; familial; Female; Germ-Line Mutation; Humans; Immunohistochemistry; lung; Lung Neoplasms - genetics; Male; Medical sciences; Middle Aged; multiple endocrine neoplasia type 1; Multiple Endocrine Neoplasia Type 1 - genetics; Neoplasm Proteins - analysis; Pedigree; Pneumology; Polymerase Chain Reaction; Proto-Oncogene Proteins; Tumors of the respiratory system and mediastinum
• ISSN: 0008-543X; 1097-0142
• DOI: 10.1002/1097-0142(20010601)91:11<2104::AID-CNCR1238>3.0.CO;2-I

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. Cancer 2001;91:2104–9. © 2001 American Cancer Society. Two sets of first‐degree relatives with primary pulmonary carcinoid tumors not associated with multiple endocrine neoplasia type 1 are described for the first time.