Scholarlink

<p>Desmoplastic myxoid tumor of the pineal region, <i>SMARCB1</i>-mutant (DMT-<i>SMARCB1</i>) is a rare central nervous system neoplasm, with only approximately 15 reported cases. Published cases suggest a relatively indolent clinical course with low proliferative activity and no radiologically documented disseminated disease. We report a 47-year-old woman with a pineal region mass who developed aggressive recurrence and focal leptomeningeal dissemination following ventriculoperitoneal shunt placement and Gamma Knife radiosurgery. Histologically, the tumor was composed of discohesive rhabdoid cells embedded within a prominent myxoid stroma and focal collagenous matrix. Immunohistochemistry demonstrated loss of INI1 expression. DNA methylation profiling, interpreted in conjunction with histopathological and immunohistochemical findings, supported the diagnosis of DMT-<i>SMARCB1</i> and demonstrated molecular proximity to other <i>SMARCB1</i>-deficient central nervous system neoplasms. Literature review revealed no previous reports of radiologically documented leptomeningeal dissemination. This case expands the clinicopathologic spectrum of DMT-<i>SMARCB1</i> and highlights the potential for aggressive biological behavior despite relatively low-grade histologic features.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Aggressive clinical behavior of desmoplastic myxoid tumor of the pineal region, SMARCB1-mutant: expanding the biological spectrum of a rare central nervous system neoplasm

  • 期刊论文

  • 发表日期：

    2026年7月17日

查看全文
  • Yu-Wei Chang,
  • Yao-Feng Li,
  • Yun-An Chen,
  • Ren-Ching Wang,
  • Nien-Yi Chang,
  • Che-Chi Liao

摘要

Desmoplastic myxoid tumor of the pineal region, SMARCB1-mutant (DMT-SMARCB1) is a rare central nervous system neoplasm, with only approximately 15 reported cases. Published cases suggest a relatively indolent clinical course with low proliferative activity and no radiologically documented disseminated disease. We report a 47-year-old woman with a pineal region mass who developed aggressive recurrence and focal leptomeningeal dissemination following ventriculoperitoneal shunt placement and Gamma Knife radiosurgery. Histologically, the tumor was composed of discohesive rhabdoid cells embedded within a prominent myxoid stroma and focal collagenous matrix. Immunohistochemistry demonstrated loss of INI1 expression. DNA methylation profiling, interpreted in conjunction with histopathological and immunohistochemical findings, supported the diagnosis of DMT-SMARCB1 and demonstrated molecular proximity to other SMARCB1-deficient central nervous system neoplasms. Literature review revealed no previous reports of radiologically documented leptomeningeal dissemination. This case expands the clinicopathologic spectrum of DMT-SMARCB1 and highlights the potential for aggressive biological behavior despite relatively low-grade histologic features.