Primary Intracranial Sarcoma, <i>DICER1</i>-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature

Leelatian, Nalin; Goss, James; Pastakia, Devang; Dewan, Michael C.; Snuderl, Matija; Mobley, Bret

doi:10.1093/jnen/nlac053

Cited by 3 publications

(1 citation statement)

References 15 publications

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“…Intra-axial masses tend to be peripheral and within the cerebral hemispheres. [82][83][84][85][86] The typical appearance is hyperdense, T2 iso-to hypointense, diffusion-restricting, and enhancing, with intratumoral hemorrhage and peritumoral edema. [82][83][84][85]87 Pituitary Blastoma Pituitary blastomas are rare WHO grade 4 embryonal tumors of the adenohypophysis associated with DICER1 mutations.…”

Section: Cns Tumor With Bcor Internal Tandem Duplicationmentioning

confidence: 99%

Newly Recognized CNS Tumors in the 2021 World Health Organization Classification: Imaging Overview with Histopathologic and Genetic Correlation

Rigsby

Brahmbhatt

Desai

et al. 2023

AJNR Am J Neuroradiol

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In 2021, the World Health Organization released an updated classification of CNS tumors. This update reflects the growing understanding of the importance of genetic alterations related to tumor pathogenesis, prognosis, and potential targeted treatments and introduces 22 newly recognized tumor types. Herein, we review these 22 newly recognized entities and emphasize their imaging appearance with correlation to histologic and genetic features.ABBREVIATIONS: AT/RT ¼ atypical teratoid/rhabdoid tumor; cIMPACT-NOW ¼ Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy-Not Official WHO; GFAP ¼ glial fibrillary acidic protein; MAPK ¼ mitogen-activated protein kinase; NEC ¼ not elsewhere classified; NOS ¼ not otherwise specified; PFA and PFB ¼ posterior fossa ependymoma groups A and B; WHO ¼ World Health Organization; WHO CNS5 ¼ World Health Organization Classification of Tumors of the Central Nervous System, fifth edition; IDH ¼ isocitrate dehydrogenase

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Section: Cns Tumor With Bcor Internal Tandem Duplicationmentioning

confidence: 99%

Newly Recognized CNS Tumors in the 2021 World Health Organization Classification: Imaging Overview with Histopathologic and Genetic Correlation

Rigsby

Brahmbhatt

Desai

et al. 2023

AJNR Am J Neuroradiol

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All pineal tumors expressing germ cell tumor markers are not necessarily germ cell tumors: histopathological and molecular study of a midline primary intracranial sarcoma DICER1-mutant

et al. 2022

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Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities

Tauziède‐Espariat

Hasty

Métais

et al. 2023

acta neuropathol commun

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The fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System (CNS) now includes mesenchymal tumors that occur uniquely or frequently in the CNS. Moreover, this version has aligned the terminology of mesenchymal tumors with their soft tissue counterparts. New tumor types have been added, such as the “intracranial mesenchymal tumor, FET-CREB fusion-positive”, the “CIC-rearranged sarcoma”, and the “Primary intracranial sarcoma, DICER1-mutant”. Other entities (such as rhabdomyosarcoma) have remained in the current WHO classification because these tumor types may present specificities in the CNS as compared to their soft tissue counterparts. Based on an extensive literature review, herein, we will discuss these newly recognized entities in terms of clinical observation, radiology, histopathology, genetics and outcome, and consider strategies for an accurate diagnosis. In light of this literature analysis, we will also introduce some potentially novel tumor types.

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Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature

Cited by 3 publications

References 15 publications

Newly Recognized CNS Tumors in the 2021 World Health Organization Classification: Imaging Overview with Histopathologic and Genetic Correlation

Newly Recognized CNS Tumors in the 2021 World Health Organization Classification: Imaging Overview with Histopathologic and Genetic Correlation

All pineal tumors expressing germ cell tumor markers are not necessarily germ cell tumors: histopathological and molecular study of a midline primary intracranial sarcoma DICER1-mutant

Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities

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