Thymic Carcinoid Tumor as Single Manifestation of Multiple Endocrine Neoplasia Type 1: A Clue to Suspect a Germline MEN1 Mutation?

Sergio Carrera, Intza Garin, Aintzane Sancho, Elena Beristain, Eider Azkona, Guillermo López-Vivanco, Itziar Rubio and Cristina Martínez-Bouzas

Genetic Counseling Unit-Medical Oncology Department, University Hospital of Cruces, Spain
Molecular Genetics Laboratory, University Hospital of Araba, Spain
Molecular Genetics Laboratory, University Hospital of Cruces, Spain

^*Correspondance to: Sergio Carrera 

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Abstract:

Multiple endocrine neoplasia type 1 (MEN1) is a familiar tumor syndrome of endocrine neoplasia involving parathyroid, anterior pituitary and enteropancreatic neuroendocrine tissues. Thymic carcinoid tumors are rare tumors that occur in 2-8.2% of patients with MEN1 and they exhibit a predilection for men over women. Published data of thymic carcinoid tumors in MEN1 are scarce and they seldom constitute the first manifestation in this syndrome. We present a case of a woman with a thymic carcinoid tumor diagnosed at a very young age with no other clinical features of MEN1, and apparently not significant family history (mother with breast cancer developed at the age of 35), which was genetically diagnosed of a splice site mutation in MEN1 gene. Although no classical MEN1 clinical or familial criteria were met, the age of presentation of thymic carcinoid in our subject gave us the main clue of our clinical suspicion. Since MEN1 syndrome has a variable expression and it may not be exclusively correlated with endocrine tumors, we suggest that MEN1 mutational analysis should also be considered in all patients with carcinoid thymic tumors, especially if it is presented at young age, independently of the absence of classical clinical or familial MEN1 criteria.

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Cite the Article:

Carrera S, Garin I, Sancho A, Beristain E, Azkona E, López-Vivanco G, Rubio I, et al. Thymic Carcinoid Tumor as Single Manifestation of Multiple Endocrine Neoplasia Type 1: A Clue to Suspect a Germline MEN1 Mutation?. Ann Clin Case Rep. 2017; 2: 1293.