Inan Mehmet Arda, Urganci Melike, Simsek Berkay, Coskun Meric, Sahin Melih, Celtikci Emrah, Poyraz Aylar
Dept. of Pathology, Acibadem University School of Medicine, Istanbul, Turkey.
Dept. of Pathology, Gazi University School of Medicine, Ankara, Turkey.
Virchows Arch. 2025 Jul 16. doi: 10.1007/s00428-025-04176-5.
Pituitary neuroendocrine tumors (PitNETs), formerly known as adenomas, are heterogeneous neoplasms that can result in significant clinical morbidity. The molecular pathogenesis of these tumors has been linked to mutations in genes such as GNAS, MEN1, and USP8, with their roles in tumor development well characterized. However, the potential contributions of the phosphatase and tensin homolog (PTEN) and microsatellite instability (MSI)-related genes remain insufficiently elucidated. This study aimed to investigate the immunohistochemical expression profiles of PTEN, phosphorylated protein kinase B (pAKT1), phosphorylated ribosomal protein S6 (pRPS6), and DNA mismatch repair (MMR) proteins in PitNETs. In this retrospective analysis, archived formalin-fixed, paraffin-embedded tumor samples from 154 patients were stained for PTEN, pAKT1, and pRPS6, and H-scores were calculated based on the three most intensely stained high-power fields. Additionally, MMR protein expression (PMS2, MLH1, MSH2, and MSH6) was assessed to evaluate MSI status. Gonadotroph tumors were the most common subtype (45.5%). Statistical analysis revealed a significant loss of PTEN expression in lactotroph tumors, along with a sex-based association with tumor type. Notably, pRPS6 expression was significantly elevated in tumors exhibiting PTEN loss. No cases showed loss of MMR protein expression, indicating MMR proficiency across the cohort. Our findings suggest that dysregulation of the PTEN pathway may contribute to lactotroph tumorigenesis, underscoring its potential as a therapeutic target. In contrast, despite its established role as a tumor-agnostic biomarker, MMR status does not appear to hold clinical relevance for alternative treatment strategies in PitNETs.
垂体神经内分泌肿瘤(PitNETs),以前称为腺瘤,是一种异质性肿瘤,可导致严重的临床发病率。这些肿瘤的分子发病机制与GNAS、MEN1和USP8等基因突变有关,它们在肿瘤发生中的作用已得到充分表征。然而,磷酸酶和张力蛋白同源物(PTEN)和微卫星不稳定性(MSI)相关基因的潜在作用仍未得到充分阐明。本研究旨在探讨PTEN、磷酸化蛋白激酶B(pAKT1)、磷酸化核糖体蛋白S6(pRPS6)和DNA错配修复(MMR)蛋白在PitNETs中的免疫组化表达谱。在这项回顾性分析中,对154例患者的存档福尔马林固定、石蜡包埋肿瘤样本进行PTEN、pAKT1和pRPS6染色,并根据三个染色最深的高倍视野计算H评分。此外,评估MMR蛋白表达(PMS2、MLH1、MSH2和MSH6)以评估MSI状态。促性腺激素瘤是最常见的亚型(45.5%)。统计分析显示,催乳素瘤中PTEN表达显著缺失,且与肿瘤类型存在性别关联。值得注意的是,在PTEN缺失的肿瘤中,pRPS6表达显著升高。没有病例显示MMR蛋白表达缺失,表明该队列中MMR功能正常。我们的研究结果表明,PTEN通路的失调可能有助于催乳素瘤的发生,强调了其作为治疗靶点的潜力。相比之下,尽管MMR状态作为一种与肿瘤无关的生物标志物已被确立,但其似乎对PitNETs的替代治疗策略没有临床相关性。