Genetic factors associated with thymic tumours in patients with MEN1: A nested case-control study in the GTE/AFCE cohort of patients with MEN1

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Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome due to mutations inactivating the MEN1 gene. It is characterised by the development of tumours in various endocrine tissues. One of the major difficulties in its management is its largely unpredictable course, particularly as regards to the development of thymic tumours, which prognosis remains poor.

Aim(s): We took advantage of the large size of the cohort of MEN1 (1600 included patients) of the Groupe d’étude des Tumeurs Endocrines (GTE) and of the Association Francophone de Chirurgie Endocrinnienne (AFCE) in an attempt to identify the genetic factors that may be associated with the development of thymic tumours in patients with MEN1.

Materials and methods: All men with a confirmed thymic tumour in the GTE/AFCE cohort were selected and matched to two randomly selected controls (replicated 1000 times) without thymic tumours, with a diagnosis of MEN1 identified at the same period (<1990; 1990-2000; ≥2000) and with an age at their last follow-up at least equal to the age of their paired case at the time of thymic tumour discovery. Conditional logistic regression models were then applied on the 1,000 case-control samples.

Conference:

Presenting Author: Journé A

Authors: Journé A, Goudet P, Sow A, Daniel S, Costa A,

Keywords: thymic tumour, risk factor, Multiple endocrine neoplasia type 1,