EYES2023 Poster Presentations Guided Poster Tour 1: Adrenal and Neuroendocrine tumors (10 abstracts)
MEN 2 syndrome heterogeneity in a cohort of Romanian patients
Tiberiu Manole 1 , Ionela Baciu 1 , Simona Galoiu 1 , Nicoleta Baculescu 1 , Dan Niculescu 1 , Serban Radian 1 , Andrei Muresan 2 , Elena Braha 3 & Catalina Poiana 1
1C I Parhon National Institute of Endocrinology, Bucharest, Romania, Pituitary and Neuroendocrine Pathology, Bucharest, Romania; 2C I Parhon National Institute of Endocrinology, Bucharest, Romania, Clinical Research Laboratory, Bucharest, Romania; 3C I Parhon National Institute of Endocrinology, Bucharest, Romania, Medical Genetics Department, Bucharest, Romania.
Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.
Objectives: To present the clinical and paraclinical heterogeneity, treatment options and post-surgical complications in a cohort of Romanian patients with MEN 2 syndrome.
Methods: A retrospective non-interventional clinical study analysing data from patients evaluated in a tertiary centre diagnosed with a RET gene mutation or who were already diagnosed and came to follow-ups in the 2017–2022 period.
Results: We analysed data from 23 patients (average age at diagnosis of 42.8 years), with one patient diagnosed at birth through active screening, while the oldest patient was 74 years. 4 patients had a de novo mutation, while 19 had a positive familial history (15 separate families) and were diagnosed through active screening. 21 patients were diagnosed with MTC, 10 had adrenal paragangliomas, out of which 8 had bilateral disease (3 at the time of diagnosis and 5 at follow-ups) and 1 patient had PHP. 19 had as a first diagnosis MTC, 3 had paragangliomas and 1 had all 3 diseases synchronously. 9 of the patients with CMT had a persistent disease with a calcitonin doubling time of 91.4 months and 2 had a recurrence of the disease after 5 years. Out of the thyroidectomised patients, 18 had metastatic disease, while 2 patients refused the surgery, even though they had the genetic diagnosis.
Conclusions: MEN 2 syndrome requires surveillance for the development of each disease and treatment when needed, as well as active screening of the patients’ first grade relatives for the genetic mutation and prompt intervention.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more