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

Author:

Wu Zhichao,Dazelle Karen,Abdullaev Zied,Chung Hye-Jung,Dahiya Sonika,Wood Matthew,Lee Han,Lucas Calixto-Hope G.,Mao Qinwen,Robinson Lorraina,Fernandes Igor,McCord Matthew,Pytel Peter,Conway Kyle S.,Yoda Rebecca,Eschbacher Jennifer M.,Maher Ossama M.,Hasselblatt Martin,Mobley Bret C.,Raisanen Jack M.,Hatanpaa Kimmo J.,Byers Joshua,Lehman Norman L.,Cimino Patrick J.,Pratt Drew,Quezado Martha,Aldape KennethORCID

Abstract

AbstractPapillary 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.

Publisher

Springer Science and Business Media LLC

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