{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T15:02:47Z","timestamp":1774278167465,"version":"3.50.1"},"reference-count":29,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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&gt;A (rs79658334), p.Val804Met. Alongside the fact that the patient\u2019s 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\u2019 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.<\/jats:p>","DOI":"10.3390\/ijms25031895","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T05:22:44Z","timestamp":1707110564000},"page":"1895","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?"],"prefix":"10.3390","volume":"25","author":[{"given":"Sabrina","family":"Chiloiro","sequence":"first","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ettore Domenico","family":"Capoluongo","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology, Federico II University, 80138 Naples, Italy"},{"name":"Department of Clinical Pathology and Genomics, Ospedale per l\u2019Emergenza Cannizzaro, 95126 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0942-0496","authenticated-orcid":false,"given":"Flavia","family":"Costanza","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0833-4334","authenticated-orcid":false,"given":"Angelo","family":"Minucci","sequence":"additional","affiliation":[{"name":"Unit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Giampietro","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4407-2631","authenticated-orcid":false,"given":"Amato","family":"Infante","sequence":"additional","affiliation":[{"name":"Department of Imaging, Radiation Therapy and Hematology, Universit\u00e0 Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Milardi","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Ricciardi Tenore","sequence":"additional","affiliation":[{"name":"Unit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"De Bonis","sequence":"additional","affiliation":[{"name":"Unit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1681-4343","authenticated-orcid":false,"given":"Simona","family":"Gaudino","sequence":"additional","affiliation":[{"name":"Department of Imaging, Radiation Therapy and Hematology, Universit\u00e0 Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Rindi","sequence":"additional","affiliation":[{"name":"Section of Anatomic Pathology, Department of Life Sciences and Public Health, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"},{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Olivi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, L.go A. Gemelli, 8, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"De Marinis","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Pontecorvi","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7438-0734","authenticated-orcid":false,"given":"Francesco","family":"Doglietto","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, L.go A. Gemelli, 8, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Surgery, Universit\u00e0 Cattolica del Sacro, 00168 Rome, Italy"},{"name":"Division of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Bogus\u0142awska, A., and Korbonits, M. (2021). Genetics of Acromegaly and Gigantism. J. Clin. 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