Pineal Tumor (PINT)

Overview

Pineal tumors are a heterogeneous group of neoplasms arising in the pineal gland and pineal region, including pineocytoma (WHO grade I), pineal parenchymal tumor of intermediate differentiation (PPTID, WHO grade II-III), pineoblastoma (WHO grade IV), and papillary tumor of the pineal region (PTPR). Pineoblastoma is an aggressive embryonal tumor associated with germline RB1, DICER1, or DROSHA mutations (trilateral retinoblastoma, DICER1 syndrome). Treatment is multimodal (surgery, chemotherapy, craniospinal radiation).

Cohorts in the corpus

  • mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes pineal tumor / pineoblastoma cases among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

  • PIPseq cohort: DICER1 frameshift L1603Pfs identified in a pineoblastoma patient — germline finding flagging DICER1 syndrome with health maintenance for Sertoli-Leydig tumor risk; UGT1A1 homozygous *28 (TA)7TAA allele also identified as a pharmacogenomic flag for irinotecan/SN-38 toxicity in a pineoblastoma patient (PB page) PMID:28007021.

Subtypes

  • Pineocytoma (WHO grade I): favorable prognosis; surgery alone often curative.
  • PPTID (WHO grade II-III): intermediate behavior.
  • Pineoblastoma (WHO grade IV): highly aggressive embryonal tumor; poor prognosis; DICER1/RB1/DROSHA germline associations.
  • Papillary tumor of the pineal region (PTPR): distinct entity; intermediate behavior.

Therapeutic landscape

  • Pineoblastoma: craniospinal irradiation + chemotherapy (high-dose, with autologous SCT in young children); DICER1-germline cases warrant syndrome surveillance.

Sources

  • PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

This page was processed by crosslinker on 2026-05-14.