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左膝关节关节内炎症性肌纤维母细胞瘤,ALK-CARS 融合通过 Archer Fusionplex 肉瘤 NGS .panel 检测:病例报告和文献复习。

Intraarticular Inflammatory Myofibroblastic Tumor of the Left Knee With ALK-CARS Fusion Detected With Archer Fusionplex Sarcoma NGS Panel: Case Report and Literature Review.

机构信息

61188Centro Médico ABC, Ciudad de México, Mexico.

26738Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

出版信息

Int J Surg Pathol. 2021 Apr;29(2):216-222. doi: 10.1177/1066896920937770. Epub 2020 Jul 7.

DOI:10.1177/1066896920937770
PMID:32631118
Abstract

Inflammatory myofibroblastic tumor (IMT) is a lesion of intermediate biological potential with local recurrences and rare metastases found in multiple anatomical locations. We present a case of a pure intraarticular IMT of the knee, a location that has not been previously documented, with genetic confirmation of ALK-CARS fusion detected with next-generation sequencing. A 20-year-old healthy male was admitted to the orthopedic oncology department due to several months of pain and restriction in movement of his left knee. On magnetic resonance imaging, multiple intraarticular nodular lesions were seen. The patient underwent 2 synovectomies within the course of 1 year. The initial biopsy was interpreted as nodular fasciitis. The second biopsy revealed exuberant tissue displaying compact fascicles of spindle cells intermixed with myxoid areas in a background of inflammatory cells, highly suggestive for IMT. Due to the unusual intraarticular location, equivocal ALK immunostaining and the differential diagnosis with nodular fasciitis, we performed targeted next-generation sequencing using Archer FusionPlex Sarcoma panel, which can identify multiple fusions in a single assay. An ALK-CARS fusion was found, supporting the diagnosis of IMT. This report emphasizes the added value of broad molecular analysis in cases with unusual clinical presentation, equivocal immunohistochemistry, and a wide differential diagnosis.

摘要

炎性肌纤维母细胞瘤(IMT)是一种生物学潜能中等的病变,可在多个解剖部位发生局部复发和罕见转移。我们报告了一例膝关节纯关节内 IMT 病例,该部位以前未有文献记载,通过下一代测序检测到 ALK-CARS 融合的基因确证。一名 20 岁健康男性因左膝关节疼痛和活动受限数月而被收入骨科肿瘤科。磁共振成像显示多个关节内结节性病变。患者在 1 年内接受了 2 次滑膜切除术。初次活检结果解释为结节性筋膜炎。第二次活检显示,增生的组织中可见密集的梭形细胞束,伴有粘液样区,背景中有炎症细胞,高度提示为 IMT。由于关节内位置不寻常、ALK 免疫组化结果不确定以及与结节性筋膜炎的鉴别诊断,我们使用 Archer FusionPlex Sarcoma 面板进行了靶向下一代测序,该面板可在单次检测中识别多种融合。发现了一个 ALK-CARS 融合,支持 IMT 的诊断。本报告强调了在临床表现不典型、免疫组织化学结果不确定和广泛鉴别诊断的情况下,广泛的分子分析的附加价值。

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