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

RET mutation acromegaly genetics hereditary cancer-predisposing syndrome precision medicine

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
05 Feb 2024
Historique:
received: 15 12 2023
revised: 24 01 2024
accepted: 29 01 2024
medline: 10 2 2024
pubmed: 10 2 2024
entrez: 10 2 2024
Statut: epublish

Résumé

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

Identifiants

DOI: 10.3390/ijms25031895 PMID: 38339173
pubmed: 38339173
pii: ijms25031895
doi: 10.3390/ijms25031895
pii:
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Sabrina Chiloiro (S)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Ettore Domenico Capoluongo (ED)

Department of Molecular Medicine and Medical Biotechnology, Federico II University, 80138 Naples, Italy.
Department of Clinical Pathology and Genomics, Ospedale per l'Emergenza Cannizzaro, 95126 Catania, Italy.

Flavia Costanza (F)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
ORCID: 0000-0002-0942-0496

Angelo Minucci (A)

Unit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
ORCID: 0000-0002-0833-4334

Antonella Giampietro (A)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Amato Infante (A)

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.
ORCID: 0000-0003-4407-2631

Domenico Milardi (D)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Claudio Ricciardi Tenore (C)

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

Maria De Bonis (M)

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

Simona Gaudino (S)

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.
ORCID: 0000-0003-1681-4343

Guido Rindi (G)

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

Alessandro Olivi (A)

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

Laura De Marinis (L)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Alfredo Pontecorvi (A)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Francesco Doglietto (F)

Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli, 8, 00168 Rome, Italy.
ORCID: 0000-0002-7438-0734

Antonio Bianchi (A)

Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, Italy.
Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Classifications MeSH