Papillary tumor of the pineal region: analysis of DNA methylation profiles and clinical outcomes in 76 cases

Autor: Zhichao Wu, Karen Dazelle, Zied Abdullaev, Hye-Jung Chung, Sonika Dahiya, Matthew Wood, Han Lee, Calixto-Hope G. Lucas, Qinwen Mao, Lorraina Robinson, Igor Fernandes, Matthew McCord, Peter Pytel, Kyle S. Conway, Rebecca Yoda, Jennifer M. Eschbacher, Ossama M. Maher, Martin Hasselblatt, Bret C. Mobley, Jack M. Raisanen, Kimmo J. Hatanpaa, Joshua Byers, Norman L. Lehman, Patrick J. Cimino, Drew Pratt, Martha Quezado, Kenneth Aldape
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-7 (2024)
Druh dokumentu: article
ISSN: 2051-5960
DOI: 10.1186/s40478-024-01781-4
Popis: Abstract 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.
Databáze: Directory of Open Access Journals
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