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.
Int J Mol Sci. 2024 Feb 5;25(3):1895. doi: 10.3390/ijms25031895.
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 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 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 pathogenic variant, represented by aggressive acromegaly, and suggests consideration for mutation screening if NGS for well-established PitNET-associated gene mutations renders negative.
已经进行了几项遗传研究，以鉴定生长激素腺瘤（垂体肿瘤的一种亚型）中的种系和体细胞突变。据我们所知，我们报告了首例携带致病性变异的肢端肥大症患者：c.2410G>A (rs79658334)，p.Val804Met。鉴于患者的父亲和女儿携带相同的变异，我们研究了该变异在生长激素腺瘤和其他内分泌肿瘤中的临床意义，回顾了突变的致癌机制。目的是寻找新的靶点，以精确地管理和治疗肢端肥大症。我们的病例描述了与致病性变异相关的新表型，表现为侵袭性肢端肥大症，并建议如果下一代测序（NGS）对已确立的与 PitNET 相关基因突变的检测结果为阴性，考虑进行突变筛查。
