Familial pulmonary carcinoid tumors

Abstract

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.

Family History of Cancer and Associated Risk of Developing Neuroendocrine Tumors: A Case-Control Study

“…It is possible that the occurrence of this familial case of pulmonary NETs was due to chance. This case is supported by a report from Oliveira et al (18) on four patients (two sets of first-degree relatives) diagnosed with pulmonary NETs in the absence of MEN-1 syndrome. The authors suggested that there was a rare germ line mutation specific for the development of pulmonary NETs.…”

“…The association of parental NETs was found in both men and women. Our observation is supported by several anecdotal reports of familial NETs of the small intestine (14-16), stomach (17), rectum (10), and lung (18), and by two epidemiologic studies, one conducted in the United States (19) and the other in Sweden (20). The Swedish population-based study estimated a 4-fold increase in risk of developing NETs in the offspring of affected parents.…”

Metastatic Carcinoid Tumors: A Clinical Review

“…However, the relative risk of developing a carcinoid tumor for an individual with one affected firstdegree relative is 3.6 (95% confidence interval [CI], 3.3-4.1), and with two affected offspring, the relative rise is >12 (95% CI, 3.2-27.4) [4,9]. A study performed in familial pulmonary carcinoid tumors not associated with MEN-1, did not reveal a specific genetic disorder [10], although lung carcinoids were more prone to have deletions on chromosome 11q. In sporadic midgut carcinoids, a high frequency of deletions on chromosome 18 is described [11].…”

Microsatellite instability and loss of heterozygosity at the MEN1 locus in lung carcinoid tumors: A novel approach using real-time PCR with melting curve analysis in histopathologic material

“…Alterations of the MEN1 gene occur in a great variety of endocrine tumors and they are considered also to be involved in the pathogenesis of pulmonary carcinoids (17)(18)(19)(20)(21)(22)(23)(24). Specifically, allelic deletions and mutations of the MEN1 gene have been reported in lung carcinoid tumors, including those developing sporadically in the absence of MEN1 syndrome (17,20,24).…”

“…In pulmonary carcinoids, an interesting subset of endocrine tumors, similar MEN1 alterations have been reported and considered to be involved in the development of these tumors (17)(18)(19)(20)(21)(22)(23).…”