Desmoplastic myxoid tumor, SMARCB1-mutant: a new variant of SMARCB1-deficient tumor of the central nervous system preferentially arising in the pineal region

被引：15

作者：

Matsumura, Nozomi ^{[1
]}

Goda, Naoki ^{[2
,3
]}

Yashige, Konomi ^{[3
]}

Kitagawa, Masashi ^{[4
]}

Yamazaki, Tatsuya ^{[1
]}

Nobusawa, Sumihito ^{[1
]}

Yokoo, Hideaki ^{[1
]}

机构：

[1] Gunma Univ, Grad Sch Med, Dept Human Pathol, 3-39-22 Showa Machi, Maebashi, Gunma 3718511, Japan

[2] Kyoto Univ, Dept Diagnost Pathol, Grad Sch Med, Kyoto, Kyoto, Japan

[3] Hyogo Prefectural Amagasaki Gen Med Ctr, Dept Diagnost Pathol, Amagasaki, Hyogo, Japan

[4] Hyogo Prefectural Amagasaki Gen Med Ctr, Dept Neurosurg, Amagasaki, Hyogo, Japan

来源：

VIRCHOWS ARCHIV | 2021年 / 479卷 / 04期

关键词：

DMT; SMARCB1-mutant; Atypical teratoid; rhabdoid tumor; Pineal region; Myxoid stroma; CHILDHOOD;

D O I：

10.1007/s00428-020-02978-3

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：835 / 839

页数：5

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