Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature

María Concepción Campos Mármol; María Aguado; Teresa Ramón Y Cajal; Alberto Gallardo; Luis Catasús; Allan Gonzalez; Jorge Eliecer Méndez; Adriana Lasa; Montse Arumi; Oscar Gallego Rubio; Josep Balart Serra; Fernando Muñoz Hernandez; Andreas von Deimling; Felix K F Kommoss; Iñigo Espinosa

doi:10.32074/1591-951X-970

Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature

Pathologica. 2024 Jun;116(3):170-175. doi: 10.32074/1591-951X-970.

Authors

María Concepción Campos Mármol¹, María Aguado², Teresa Ramón Y Cajal³, Alberto Gallardo⁴, Luis Catasús⁴, Allan Gonzalez⁴, Jorge Eliecer Méndez⁵, Adriana Lasa^{6

7}, Montse Arumi⁸, Oscar Gallego Rubio², Josep Balart Serra⁹, Fernando Muñoz Hernandez¹⁰, Andreas von Deimling¹¹, Felix K F Kommoss^{12

13

14}, Iñigo Espinosa⁴

Affiliations

¹ Department of Pathology, Hospital General de Granollers, Granollers, Spain.
² Department of Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
³ Genetic Counselling Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
⁴ Department of Pathology, Hospital de la Santa Creu i Sant Pau, Institute of Biomedical Research (IIB Sant Pau), Autonomous University of Barcelona, Barcelona, Spain.
⁵ Department of Radiology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
⁶ Department of Genetics, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
⁷ Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
⁸ Department of Pathology, Hospital del Mar, Barcelona, Spain.
⁹ Department of Radiotherapeutic Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
¹⁰ Department of Neurosurgery, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
¹¹ Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany and Clinical Cooperation Unit Neuropathology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
¹² Department of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
¹³ Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
¹⁴ Department of Molecular Oncology, British Columbia Cancer Research Institute, Vancouver, BC, Canada.

Abstract

Embryonal tumors with multilayered rosettes (ETMR) are highly aggressive and therapy-resistant pediatric central nervous system (CNS) tumors that have three histological patters: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. We present a case of ETMR in an 18-year-old woman with DICER1 syndrome. This report confirms the important role of DNA-methylation analysis in the classification of CNS embryonal tumors and the importance of investigating somatic and germline DICER1 mutations in all CNS embryonal tumors.

Keywords: DICER1 syndrome; DICER1, DNA methylation-based CNS tumor classifier; embryonal tumor with multilayered rosettes.

Publication types

Case Reports
Review

MeSH terms

Adolescent
DEAD-box RNA Helicases* / genetics
DNA Methylation
Female
Humans
Neoplasms, Germ Cell and Embryonal* / genetics
Neoplasms, Germ Cell and Embryonal* / pathology
Ribonuclease III* / genetics

Substances

Ribonuclease III
DEAD-box RNA Helicases
DICER1 protein, human