ECE2023 Eposter Presentations Endocrine-related Cancer (80 abstracts)
Multiple endocrine neoplasia: about 9 cases
Siddiqa Soomauroo 1 , Fatma Mnif 1 , Abdel Mouhaymen Missaoui 1 , Dhouha Ben Salah 1 , Kawthar El Arbi 1 , Yosra Lajmi 2 , Faten Hadj Kacem 1 , Mouna Elleuch 1 , Nadia Charfi 1 , Mouna Mnif 1 , Fatma Abdelhedi 2 , Nabila Rekik 1 & Mohamed Abid 1
1Hedi Chaker University Hospital, Department of Endocrinology, Sfax, Tunisia; 2Hedi Chaker University Hospital, Department of Genetics, Sfax, Tunisia.
Introduction: Multiple endocrine neoplasia (MEN) is a group of inherited syndromes of autosomal dominant transmission characterized by the development of endocrine tumors.
Materials and methods: It is a retrospective study collecting data of 9 patients with MEN, during a 30-year period.
Results: The mean age at diagnosis was 34.6 years with a clear female predominance. The majority of our patients were from Gabes (4 cases). Seven patients had MEN1. The different pathologies described in MEN1 were: primary hyperparathyroidism (PHP/100%), macroprolactinoma and multi-nodular goiter(57%), adrenal adenoma(42.8%) and insulinoma(14.2%). The genetic study was done for all patients except one who died. It revealed the presence of a mutation in the gene coding for Menin in three cases. A new missense mutation at exon-4 of the MEN1 gene, not previously described in literature, was found in our series. Two patients had MEN2. In MEN2A (1 case), PHP was the revealing condition followed by medullary thyroid carcinoma (MTC) and then pheochromocytoma. In MEN2B (1 case), pheochromocytoma was the initial manifestation followed by MTC. Molecular study of the RET gene carried out in both patients (result in progress for MEN2A) showed a mutation in exon-16 (codon,M918T).
Discussion/conclusion: The diagnosis of MEN can be made on a range of clinical arguments but molecular study remains essential to confirm the diagnosis and to give appropriate genetic counselling. The risk of recurrence is high (50% for the offspring of an affected individual). The genetic study also makes it possible to indicate surveillance and early management of asymptomatic family cases carrying the mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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