Desmoplastic myxoid tumor, SMARCB1-mutant: a new variant of SMARCB1-deficient tumor of the central nervous system preferentially arising in the pineal region
Desmoplastic myxoid tumor (DMT), SMARCB1-mutant is a recently proposed brain tumor that occurs in the pineal region of adults. This tumor is characterized by desmoplastic stroma and various degrees of myxoid matrix. Tumor cells with low-grade morphology show polyphenotypic immunoreactivity, and rhab...
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| Veröffentlicht in: | Virchows Archiv : an international journal of pathology 2021-10, Vol.479 (4), p.835-839 |
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| container_title | Virchows Archiv : an international journal of pathology |
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| creator | Matsumura, Nozomi Goda, Naoki Yashige, Konomi Kitagawa, Masashi Yamazaki, Tatsuya Nobusawa, Sumihito Yokoo, Hideaki |
| description | Desmoplastic myxoid tumor (DMT), SMARCB1-mutant is a recently proposed brain tumor that occurs in the pineal region of adults. This tumor is characterized by desmoplastic stroma and various degrees of myxoid matrix. Tumor cells with low-grade morphology show polyphenotypic immunoreactivity, and rhabdoid cells are rare. We herein present a case with some uncommon features such as no myxoid stroma and slightly elevated proliferating activity. To date, knowledge on the variety of SMARCB1/INI1-deficient tumors of the central nervous system is gradually increasing, encompassing highly aggressive to slow-growing varieties. DMT, SMARCB1-mutant seems to be relatively benign, but careful attention is necessary because SMARCB1/INI1 deficiency is generally a genetic signature of concern. |
| doi_str_mv | 10.1007/s00428-020-02978-3 |
| format | Article |
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This tumor is characterized by desmoplastic stroma and various degrees of myxoid matrix. Tumor cells with low-grade morphology show polyphenotypic immunoreactivity, and rhabdoid cells are rare. We herein present a case with some uncommon features such as no myxoid stroma and slightly elevated proliferating activity. To date, knowledge on the variety of SMARCB1/INI1-deficient tumors of the central nervous system is gradually increasing, encompassing highly aggressive to slow-growing varieties. 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This tumor is characterized by desmoplastic stroma and various degrees of myxoid matrix. Tumor cells with low-grade morphology show polyphenotypic immunoreactivity, and rhabdoid cells are rare. We herein present a case with some uncommon features such as no myxoid stroma and slightly elevated proliferating activity. To date, knowledge on the variety of SMARCB1/INI1-deficient tumors of the central nervous system is gradually increasing, encompassing highly aggressive to slow-growing varieties. DMT, SMARCB1-mutant seems to be relatively benign, but careful attention is necessary because SMARCB1/INI1 deficiency is generally a genetic signature of concern.</description><subject>Brain cancer</subject><subject>Brain tumors</subject><subject>Brief Report</subject><subject>Central nervous system</subject><subject>Cytology</subject><subject>Immunoreactivity</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Morphology</subject><subject>Mutants</subject><subject>Nervous system</subject><subject>Pathology</subject><subject>Pineal gland</subject><subject>Stroma</subject><subject>Tumor 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| subjects | Brain cancer Brain tumors Brief Report Central nervous system Cytology Immunoreactivity Medicine Medicine & Public Health Morphology Mutants Nervous system Pathology Pineal gland Stroma Tumor cells Tumors |
| title | Desmoplastic myxoid tumor, SMARCB1-mutant: a new variant of SMARCB1-deficient tumor of the central nervous system preferentially arising in the pineal region |
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