Thymic Carcinoids in Multiple Endocrine Neoplasia Type 1

Abstract

ObjectiveTo study the clinical, pathologic, and genetic features of thymic carcinoids in the setting of multiple endocrine neoplasia type 1 (MEN1) and to study means for detection and prevention of this tumor in patients with MEN1. Summary Background DataThymic carcinoid is a rare malignancy, with approximately 150 cases reported to date. It may be associated with MENW and carries a poor prognosis, with no effective treatment. Its underlying etiology is unknown. MethodsTen patients with MEN1 from eight famifles with anterior mediastinal tumors were induded in a case senes study at terkary referring hospitals. Clinicopathologic studies were done on these patients, with a review of the literature. Mutation analysis was performed on the MEN1 gene in families with dusterings of the tumor to look for genotype-phenotype correlation. Loss of heterozygosity was studied in seven cases to look for genetic abnormalities. ResultsHistologic studies of all tumors were consistent with the diagnosis of thymic carcinoid. Clustering of this tumor was found in some of the families-three pairs of brothers and three families with first-or second-degree relatives who had thymic carcinoid. ConclusionsMEN1 -related thymic carcinoids constitute approximately 25% of all cases of thymic carcinoids. In patients with MEN1, this is an insidious tumor not associated with Cushing's or carcinoid syndrome. Local invasion, recurrence, and distant metastasis are common, with no known effective treatment. We propose that CT or MRI of the chest, as well as octreoscanning, should be considered as part of dinical screening in patients with MEN1. We also propose performing prophylactic thymectomy during subtotal or total parathyroidectomy on patients with MEN1 to reduce the risks of thymic carcinoid and recurrence of hyperparathyroidism. Its male predominance, the absence of LOH in the MEN1 region, clustering in dose relatives, and the presence of dfferent MEN1 mutations in these families suggest the involvement of moding genes in additin to the MEN1 gene. A putative tumor suppressor gene in 1 p may be involved.

Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: natural history and function of menin in tumorigenesis

“…In the other series, patients were followed for a mean 5-7 years and metastases occurred in 32-71% of the patients. Disease-related mortality in these series ranged from 0 to 43% (Teh et al 1998, Gibril et al 2003, Ferolla et al 2005, Goudet et al 2009, Sakurai et al 2013. In one of the two series reporting no mortality, the majority was discovered incidentally at prophylactic thymectomy or by screening (Gibril et al 2003).…”

Timing and extent of surgery in symptomatic and asymptomatic neuroendocrine tumors of the pancreas in MEN 1

“…The trait also implies increased risk for development of other tumors; 30% of patients have uni-or bilateral adrenocortical tumors, 7% foregut (bronchial, thymic or gastric) carcinoids, and a few patients multiple lipomas or ependymomas [1,2,3,4]. MEN 1 syndrome is rare and is estimated to occur with a prevalence of 0.2-2/100,000 individuals [5].…”

Thymic Carcinoid in a Patient with Multiple Endocrine Neoplasia Type 1: Report of a Case

“…[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] The majority of these patients were men (93%), with an average age of 43 years. Among the 43 patients whose MEN1 features were described, hyperparathyroidism was diagnosed in 40 (93%), an endocrine pancreatic tumor in 16 (37%), prolactinoma in 7 (16%), an adrenocortical tumor in 6 (14%), lipoma in 4 (9%), and a thyroid nodule in 2 (5%).…”