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A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region
Author(s) -
Wang YueE.,
Chen JingJing,
Wang Wei,
Zhang AnLi,
Zhou Wenchao,
Wu HaiBo
Publication year - 2021
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12695
Subject(s) - smarcb1 , atypical teratoid rhabdoid tumor , headaches , pathological , pathology , lesion , vomiting , medicine , immunohistochemistry , nausea , epigenetics , biology , surgery , genetics , gene , chromatin remodeling
Desmoplastic myxoid tumor (DMT), SMARCB1 mutant is a recently proposed new entity that mainly occurs in the pineal region and has epigenetic features similar to those of atypical teratoid/rhabdoid tumors (AT/RT)‐MYC and poorly differentiated chordomas. Herein, we present a new case of a 33‐year‐old man with headaches, dizziness, nausea, vomiting, and blurred vision, who was initially found to have a suspicious germinoma on imaging. After surgical removal of the lesion, the postoperative pathological diagnosis was DMT, SMARCB1 mutant. To the best of our knowledge, this is the first case reported in China. Our findings also extend the range of the immunohistochemical phenotype of this rare tumor.