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A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region
Yue-E Wang1, Jing-Jing Chen1, Wei Wang1,2
1Department of Pathology, The First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China.
Abstract:
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.
Insights
A rare Desmoplastic Myxoid Tumor (DMT), SMARCB1 mutant, a newly proposed entity, was identified in a Chinese patient. This case expands the known characteristics of this pineal region tumor.
Area of Science:
- Neuro-oncology
- Pathology
- Genetics
Background:
- Desmoplastic Myxoid Tumor (DMT), SMARCB1 mutant is a recently identified entity.
- This tumor type predominantly affects the pineal region.
- It shares epigenetic similarities with atypical teratoid/rhabdoid tumors (AT/RT)-MYC and poorly differentiated chordomas.
Observation:
- A 33-year-old male presented with symptoms including headaches, dizziness, nausea, vomiting, and blurred vision.
- Initial imaging suggested a germinoma.
- Surgical resection revealed the lesion to be a Desmoplastic Myxoid Tumor, SMARCB1 mutant.
Findings:
- This report details the first documented case of Desmoplastic Myxoid Tumor, SMARCB1 mutant in China.
- The study expands the known immunohistochemical profile of this rare tumor.
- The findings confirm DMT, SMARCB1 mutant as a distinct diagnostic entity.
Implications:
- This case highlights the importance of considering rare diagnoses in the differential for pineal region tumors.
- Further research into DMT, SMARCB1 mutant is warranted to understand its pathogenesis and behavior.
- Expanding the immunohistochemical phenotype aids in accurate diagnosis and classification of CNS tumors.
