Mouchtouris Nikolaos, Smit Rupert D, Piper Keenan, Prashant Giyarpuram, Evans James J, Karsy Michael
Department of Neurosurgery, Thomas Jefferson University Hospital, Philadelphia, PA 19107, USA.
Department of Neurosurgery, University of Utah, Salt Lake City, UT 84132, USA.
Front Biosci (Landmark Ed). 2022 Mar 4;27(3):77. doi: 10.31083/j.fbl2703077.
Pituitary adenomas (PA), or pituitary neuroendocrine tumors (PitNETs), represent 15% of all central nervous system tumors. Classic description of PitNETs solely by hormonal classification has given way to key transcription factors that play a role in the pathology of PitNETs including steroidogenic factor-1 (SF-1), t-box pituitary transcription factor (TPIT), and pituitary transcription factor 1 (PIT-1). Germline mutations in various familial PitNETs are discussed including those in familial isolated pituitary adenoma (FIPA), multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), and Carney complex. Recent advances in next generation sequencing have improved insight into the pathogenesis of PitNETs. A review of key studies in evaluating the genomic analysis of PitNETs was performed. Chromosomal mutations, whole exome sequencing, microRNA genomics, methylomics and transcriptomics were analyzed. Moreover, the multiomic analysis of various genomic panels has helped to better understand PA classification.
垂体腺瘤（PA），即垂体神经内分泌肿瘤（PitNETs），占所有中枢神经系统肿瘤的15%。仅通过激素分类对PitNETs进行的经典描述已让位于在PitNETs病理学中起作用的关键转录因子，包括类固醇生成因子-1（SF-1）、T盒垂体转录因子（TPIT）和垂体转录因子1（PIT-1）。讨论了各种家族性PitNETs中的种系突变，包括家族性孤立性垂体腺瘤（FIPA）、多发性内分泌腺瘤病（MEN）、神经纤维瘤病1型（NF1）和卡尼综合征中的突变。下一代测序的最新进展提高了对PitNETs发病机制的认识。对评估PitNETs基因组分析的关键研究进行了综述。分析了染色体突变、全外显子测序、微小RNA基因组学、甲基组学和转录组学。此外，各种基因组分析的多组学分析有助于更好地理解PA的分类。
