TY - JOUR
T1 - Papillary tumor of the pineal region
T2 - analysis of DNA methylation profiles and clinical outcomes in 76 cases
AU - Wu, Zhichao
AU - Dazelle, Karen
AU - Abdullaev, Zied
AU - Chung, Hye Jung
AU - Dahiya, Sonika
AU - Wood, Matthew
AU - Lee, Han
AU - Lucas, Calixto Hope G.
AU - Mao, Qinwen
AU - Robinson, Lorraina
AU - Fernandes, Igor
AU - McCord, Matthew
AU - Pytel, Peter
AU - Conway, Kyle S.
AU - Yoda, Rebecca
AU - Eschbacher, Jennifer M.
AU - Maher, Ossama M.
AU - Hasselblatt, Martin
AU - Mobley, Bret C.
AU - Raisanen, Jack M
AU - Hatanpaa, Kimmo J.
AU - Byers, Joshua
AU - Lehman, Norman L.
AU - Cimino, Patrick J.
AU - Pratt, Drew
AU - Quezado, Martha
AU - Aldape, Kenneth
N1 - Publisher Copyright:
© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85198653720&partnerID=8YFLogxK
U2 - 10.1186/s40478-024-01781-4
DO - 10.1186/s40478-024-01781-4
M3 - Article
C2 - 39014393
AN - SCOPUS:85198653720
SN - 2051-5960
VL - 12
JO - Acta Neuropathologica Communications
JF - Acta Neuropathologica Communications
IS - 1
M1 - 117
ER -