Molecular pathology has advanced our understanding of many tumors and offers opportunities to identify novel therapies. In the pituitary, the field has uncovered several genetic mutations that predispose to pituitary neuroendocrine tumor (PitNET) development, including MEN1, CDKN1B, PRKRIα, AIP, GPR101, and other more rare events; however, these genes are only rarely mutated in sporadic PitNETs. Recurrent genetic events in sporadic PitNETs include GNAS mutations in a subset of somatotroph tumors and ubiquitin-specific peptidase mutations (e.g., USP8, USP48) in some corticotroph tumors; to date, neither of these has resulted in altered management, and instead, the prognosis and management of PitNETs still rely more on cell type and subtype as well as local growth that determines surgical resectability. In contrast, craniopharyngiomas have either CTNNB1 or BRAF^V600E mutations that correlate with adamantinomatous or papillary morphology, respectively; the latter offers the opportunity for targeted therapy. DICER1 mutations are found in patients with pituitary blastoma. Epigenetic changes are implicated in the pathogenesis of the more common sporadic pituitary neoplasms including the majority of PitNETs and tumors of pituicytes.

分子病理学促进了我们对许多肿瘤的理解，并提供了识别新疗法的机会。在垂体方面，该领域已经发现了几种易导致垂体神经内分泌肿瘤（PitNET）发展的基因突变，包括MEN1、CDKN1B、PRKRIα、AIP、GPR101和其他更罕见的事件；然而，这些基因在零星的 PitNET 中很少发生突变。散发性 PitNET 中的复发性遗传事件包括一部分生长激素肿瘤中的GNAS突变和泛素特异性肽酶突变（例如，USP8、USP48）在一些促肾上腺皮质激素肿瘤中；迄今为止，这些都没有导致管理改变，相反，PitNETs 的预后和管理仍然更多地依赖于细胞类型和亚型以及决定手术可切除性的局部生长。相比之下，颅咽管瘤具有CTNNB1或BRAF ^V600E突变，分别与金刚瘤或乳头状形态相关；后者为靶向治疗提供了机会。在垂体母细胞瘤患者中发现了DICER1突变。表观遗传变化与更常见的散发性垂体肿瘤的发病机制有关，包括大多数 PitNETs 和垂体肿瘤。