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Histopathology and molecular pathology of pediatric pineal parenchymal tumors

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Abstract

Pineal parenchymal tumors in children are rare. They consist of two main types, pineoblastoma (PB) and pineal parenchymal tumor of intermediate differentiation (PPTID), which are World Health Organization (WHO) grade 4 and grade 2–3 respectively. PBs are divided into four distinct molecular groups: PB-miRNA1, PB-miRNA2, PB-RB1, and PB-MYC/FOXR2. PB-RB1 and PB-MYC/FOXR2 affect young children and are associated with a dismal prognosis. PB-miRNA1 and PB-miRNA2 groups affect older children and follow a more favorable course. They are characterized by mutually exclusive alterations in genes involved in miRNA biogenesis, including DICER1, DROSHA, and DGCR8. They may be sporadic or may represent one manifestation of DICER1 syndrome. PB-RB1 tumors show alterations in the RB1 gene and may develop in the setting of congenital retinoblastoma, a condition known as “trilateral retinoblastoma.” In the pediatric population, PPTIDs typically affect adolescents. They are characterized by small in-frame insertions in the KBTBD4 gene which is involved in ubiquitination.

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Abbreviations

GFAP:

Glial fibrillary acidic protein

mRNA:

Messenger RNA

miRNA:

MicroRNA

NFP:

Neurofilament proteins

PB:

Pineoblastoma

PPT:

Pineal parenchymal tumor

PPTID:

Pineal parenchymal tumor of intermediate differentiation

PTPR:

Papillary tumor of the pineal region

RB:

Retinoblastoma

WHO:

World Health Organization

Wnt:

Wingless/integrated

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Acknowledgements

This article is dedicated to the memory of Anne Jouvet, MD, PhD.

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  1. Centre de Pathologie Et Neuropathologie Est, Groupement Hospitalier Est, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677 BRON Cedex, Lyon, France

    Alexandre Vasiljevic

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Vasiljevic, A. Histopathology and molecular pathology of pediatric pineal parenchymal tumors. Childs Nerv Syst 39, 2273–2284 (2023). https://doi.org/10.1007/s00381-022-05637-x

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