Cutaneous metastasis of SMARCA4-deficient thoracic sarcoma: A diagnostic dilemma with therapeutic implications

被引：7

作者：

Leckey, Bruce D., Jr. ^{[1
]}

Selim, M. Angelica ^{[1
]}

Al-Rohil, Rami N. ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pathol, Div Dermatopathol, Box 3712, Durham, NC 27710 USA

来源：

JOURNAL OF CUTANEOUS PATHOLOGY | 2020年 / 47卷 / 06期

关键词：

epithelioid; sarcoma; SMARCA4;

D O I：

10.1111/cup.13652

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently recognized entity with undifferentiated rhabdoid morphology and mutations in the switch/sucrose nonfermenting BRG1-associated factors complex. Patients are typically males in their fifth decade with a history of smoking who present with rapidly progressive intrathoracic disease and follow an aggressive clinical course. Metastatic disease is reported in up to 77% of cases; however, to our knowledge, cutaneous metastasis has not been reported nor has it been reported as the initial manifestation of the disease. Recognizing SMARCA4-DTS from other types of epithelioid tumors that involve the skin is clinically relevant, as targeted therapies for SMARC-deficient tumors are currently being investigated and early clinical trial data show therapeutic benefit.

引用

页码：561 / 565

页数：5

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