松果体区乳头状瘤（PTPR）是一种罕见的松果体区肿瘤，具有独特的组织病理学和分子特征。关于其分子异质性和临床特征的经验有限。在这里，我们描述了 39 个新病例，并将这些病例与之前发表的 37 个病例结合起来，形成一个由 76 个 PTPR 组成的队列，所有这些病例均通过甲基化分析得到证实。如之前报道的，确定了两个主要的甲基化基团（PTPR-A 和 PTPR-B）。在我们的分析中，我们将亚型扩展为三种亚型：PTPR-A、PTPR-B1 和 PTPR-B2，并得到 DNA 甲基化谱和基因组拷贝数变异的支持。在 PTPR-B1 肿瘤中发现了 3 号或 14 号染色体频繁丢失，但在 PTPR-B2 中则没有。临床结果检查显示，近一半（14/30，47%）的受检查患者经历了肿瘤进展，不同亚型之间存在显着差异（p值 = 0.046）。我们的分析通过描述其分子异质性和临床结果，包括其肿瘤复发的趋势，扩展了对这种罕见但独特的神经上皮肿瘤的理解。© 2024。这是美国政府的作品，在美国不受版权保护；外国版权保护可能适用。

Papillary tumor of the pineal region (PTPR) is an uncommon tumor of the pineal region with distinctive histopathologic and molecular characteristics. Experience is limited with respect to its molecular heterogeneity and clinical characteristics. Here, we describe 39 new cases and combine these with 37 previously published cases for a cohort of 76 PTPR's, all confirmed by methylation profiling. As previously reported, two main methylation groups were identified (PTPR-A and PTPR-B). In our analysis we extended the subtyping into three subtypes: PTPR-A, PTPR-B1 and PTPR-B2 supported by DNA methylation profile and genomic copy number variations. Frequent loss of chromosome 3 or 14 was found in PTPR-B1 tumors but not in PTPR-B2. Examination of clinical outcome showed that nearly half (14/30, 47%) of examined patients experienced tumor progression with significant difference among the subtypes (p value = 0.046). Our analysis extends the understanding of this uncommon but distinct neuroepithelial tumor by describing its molecular heterogeneity and clinical outcomes, including its tendency towards tumor recurrence.© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.