Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome.

Autor: Ruggeri RM; Endocrinology Unit, Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, 98125, Messina, Italy. rmruggeri@unime.it., Benevento E; Endocrinology, Diabetology and Andrology Unit, Department of Clinical Medicine and Surgery, Federico II University of Naples, Naples, Italy., De Cicco F; SSD Endocrine Disease and Diabetology, ASL TO3, Pinerolo, TO, Italy., Grossrubatscher EM; Endocrine Unit, ASST Grande Ospedale Metropolitano Niguarda, Milano, Italy., Hasballa I; Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DIMI), University of Genova, Genova, Italy., Tarsitano MG; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy., Centello R; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Isidori AM; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Colao A; Endocrinology, Diabetology and Andrology Unit, Department of Clinical Medicine and Surgery, Federico II University of Naples, Naples, Italy.; UNESCO Chair 'Education for Health and Sustainable Development', Federico II University, Naples, Italy., Pellegata NS; Department of Biology and Biotechnology, University of Pavia, Pavia, Italy., Faggiano A; Endocrinology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, ENETS Center of excellence, Sapienza University of Rome, Rome, Italy.
Jazyk: angličtina
Zdroj: Endocrine [Endocrine] 2023 Dec; Vol. 82 (3), pp. 480-490. Date of Electronic Publication: 2023 Aug 26.
DOI: 10.1007/s12020-023-03497-2
Abstrakt: Purpose: Multiple endocrine neoplasia type 4 (MEN4) is a rare multiglandular endocrine neoplasia syndrome, associated with a wide tumor spectrum but hallmarked by primary hyperparathyroidism, which represents the most common clinical feature, followed by pituitary (functional and non-functional) adenomas, and neuroendocrine tumors. MEN4 clinically overlaps MEN type 1 (MEN1) but differs from it for milder clinical features and an older patient's age at onset. The underlying mutated gene, CDKN1B, encodes the cell cycle regulator p27, implicated in cellular proliferation, motility and apoptosis. Given the paucity of MEN4 cases described in the literature, possible genotype-phenotype correlations have not been thoroughly assessed, and specific clinical recommendations are lacking. The present review provides an extensive overview of molecular genetics and clinical features of MEN4, with the aim of contributing to delineate peculiar strategies for clinical management, screening and follow-up of the last and least known MEN syndrome.
Methods: A literature search was performed through online databases like MEDLINE and Scopus.
Conclusions: MEN4 is much less common that MEN1, tend to present later in life with a more indolent course, although involving the same primary organs as MEN1. As a consequence, MEN4 patients might need specific diagnostic and therapeutic approaches and a different strategy for screening and follow-up. Further studies are needed to assess the real oncological risk of MEN4 carriers, and to establish a standardized screening protocol. Furthermore, a deeper understanding of molecular genetics of MEN4 is needed in order to explore p27 as a novel therapeutic target.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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