The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?-Reference-Cited by-同舟云学术

The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?

Published:2024-02-05 Issue:3 Volume:25 Page:1895
ISSN:1422-0067
Container-title:International Journal of Molecular Sciences
language:en
Short-container-title:IJMS

Author:

Chiloiro Sabrina¹²,Capoluongo Ettore Domenico³⁴,Costanza Flavia¹²^ORCID,Minucci Angelo⁵^ORCID,Giampietro Antonella¹²,Infante Amato⁶^ORCID,Milardi Domenico¹²,Ricciardi Tenore Claudio⁵,De Bonis Maria⁵,Gaudino Simona⁶^ORCID,Rindi Guido⁷⁸,Olivi Alessandro⁹,De Marinis Laura¹²,Pontecorvi Alfredo¹²,Doglietto Francesco⁹^ORCID,Bianchi Antonio¹²

Affiliation:

1. Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy

2. Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy

3. Department of Molecular Medicine and Medical Biotechnology, Federico II University, 80138 Naples, Italy

4. Department of Clinical Pathology and Genomics, Ospedale per l’Emergenza Cannizzaro, 95126 Catania, Italy

5. Unit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy

6. Department of Imaging, Radiation Therapy and Hematology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00168 Rome, Italy

7. Section of Anatomic Pathology, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy

8. Unit of Head and Neck, Thoracic and Endocrine Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma European Neuro-Endocrine Tumor Society (ENETS) Center of Excellence, 00168 Rome, Italy

9. Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli, 8, 00168 Rome, Italy

Abstract

Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a RET pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient’s father and daughter carried the same variant, we investigated the clinical significance of this variant in the context of somatotropinomas and other endocrine tumors, reviewing the RET mutations’ oncogenic mechanisms. The aim was to search for new targets to precisely manage and treat acromegaly. Our case describes a new phenotype associated with the RET pathogenic variant, represented by aggressive acromegaly, and suggests consideration for RET mutation screening if NGS for well-established PitNET-associated gene mutations renders negative.

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Link

https://www.mdpi.com/1422-0067/25/3/1895/pdf

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