International journal of molecular sciences · 2024
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Chiloiro Sabrina, Capoluongo Ettore Domenico, Costanza Flavia, Minucci Angelo, Giampietro Antonella, Infante Amato, Milardi Domenico, Ricciardi Tenore Claudio, De Bonis Maria, Gaudino Simona, Rindi Guido, Olivi Alessandro, De Marinis Laura, Pontecorvi Alfredo, Doglietto Francesco, Bianchi Antonio
Аннотация
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.