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

被引：0

作者：

Campos Marmol, Maria Concepcion ^{[1
]}

Aguado, Maria ^{[2
]}

Ramon y Cajal, Teresa ^{[3
]}

Gallardo, Alberto ^{[4
]}

Catasus, Luis ^{[4
]}

Gonzalez, Allan ^{[4
]}

Eliecer Mendez, Jorge

Lasa, Adriana ^{[5
,6
]}

Arumi, Montse ^{[7
]}

Gallego Rubio, Oscar ^{[2
]}

Balart Serra, Josep ^{[8
]}

Munoz Hernandez, Fernando ^{[9
]}

Deimling, Andreas von ^{[10
]}

Kommoss, Felix K. F. ^{[11
,12
,13
]}

Espinosa, Inigo ^{[4
]}

机构：

[1] Hosp Gen Granollers, Dept Pathol, Granollers, Spain

[2] Hosp Santa Creu & Sant Pau, Dept Oncol, Barcelona, Spain

[3] Hosp Santa Creu & Sant Pau, Genet Counselling Unit, Barcelona, Spain

[4] Autonomous Univ Barcelona, Inst Biomed Res IIB St Pau, Hosp Santa Creu & St Pau, Dept Pathol, Barcelona, Spain

[5] Hosp Santa Creu & Sant Pau, Dept Genet, Barcelona, Spain

[6] Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

[7] Hosp Mar, Dept Pathol, Barcelona, Spain

[8] Hosp Santa Creu & Sant Pau, Dept Radiotherapeut Oncol, Barcelona, Spain

[9] Heidelberg Univ Hosp, Dept Neuropathol, Heidelberg, Germany

[10] German Consortium Translat Canc Res DKTK, German Canc Res Ctr DKFZ, Clin Cooperat Unit Neuropathol, Heidelberg, Germany

[11] Heidelberg Univ Hosp, Dept Pathol, Heidelberg, Germany

[12] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC, Canada

[13] British Columbia Canc Res Inst, Dept Mol Oncol, Vancouver, BC, Canada

来源：

PATHOLOGICA | 2024年 / 116卷 / 03期

关键词：

DICER1; syndrome; embryonal tumor with multilayered rosettes; DNA methylation-based CNS tumor classifier; CLASSIFICATION;

D O I：

10.32074/1591-951X-970

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：170 / 175

页数：6

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