Pineal Tumors

2024-11-04 Scott Ryall, PhD Affiliation

1.Brigham and Women's Hospital, Harvard Medical School, Boston , MA (USA)

Classification

Definition

Tumors of the pineal region are a heterogenous group of rare neoplasms that are more common in children than in adults. Pineal tumors include i) pineocytoma, ii) pineal parenchymal tumor of intermediate differentiation, iii) pineoblastoma, iv) papillary tumor of the pineal region, and v) desmoplastic myxoid tumor, SMARCB1-mutant (DMT, SMARCB1-mutant). Unique histologic features, molecular events, and levels of aggressiveness manifest as distinct categories of pineal tumors that aid in diagnostics, prognostication, and therapeutic decision-making.

Additional details are described in the 2021 WHO Classification of Tumors of the Central Nervous System.

Pineal tumors	Genetic Event(s)
Pineoblastoma	The median age at diagnosis of pineoblastoma is approximately 6 years (0-42 years). ¹ This can be further delineated by recognizing that pineoblastoma with DICER-related tumors arise in older children (Median: 8-12 years) while RB1- and MYC- altered pineoblastoma are more prevalent in younger children and infants (Median: 1-2 years). ^1-4 DICER1, DROSHA, or DGCR8 mutations or copy number alterations have been described in pineoblastoma. ^2-6 Additional copy number events include structural alterations of chromosome 1 and losses involving chromosomes 9, 13, and 16. ^7-10 DNA methylation analysis segregates pineoblastoma into four subtypes with distinct genetic and clinical features: Pineoblastoma, miRNA processing-altered_1 and 2 characterized by copy-number alterations and/or mutually exclusive mutations targeting DICER1, DROSHA, or DGCR8, ^2-4, Pineoblastoma, RB1-altered, ^2,3 and Pineoblastoma, MYC/FOXR2-activated. ^2,3

Article Bibliography

Reference Number	Pubmed ID	Last Year	Title	Authors
1	33619588	2021	Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.	Liu APY et al
2	31820118	2020	Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.	Li BK et al
3	31768671	2020	Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.	Pfaff E et al
4	31802236	2020	Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.	Liu APY et al
5	25022261	2014	Germ-line and somatic DICER1 mutations in pineoblastoma.	de Kock L et al
6	30030436	2018	Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.	Snuderl M et al
7	10421270	1999	Comparative genomic hybridization in patients with supratentorial and infratentorial primitive neuroectodermal tumors.	Russo C et al
8	11107183	2001	Comparative genomic hybridization in pineal parenchymal tumors.	Rickert CH et al
9	17011992	2006	Cytogenetics of pineoblastoma: four new cases and a literature review.	Brown AE et al
10	21798848	2011	Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma.	Miller S et al

External Links

Citation

Scott Ryall, PhD

Pineal Tumors

Atlas Genet Cytogenet Oncol Haematol. 2024-11-04