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喉炎性肌纤维母细胞瘤中一种新型的 ALK-THBS1 融合:病例报告及文献复习。

A Novel ALK-THBS1 Fusion in a Laryngeal Inflammatory Myofibroblastic Tumour: A Case Report and Literature Review.

机构信息

Department of Pathology, CHU Montpellier, Montpellier, France.

Department of Pathology, CHU Lyon, Lyon, France.

出版信息

Head Neck Pathol. 2020 Jun;14(2):454-458. doi: 10.1007/s12105-019-01061-x. Epub 2019 Jul 31.

Abstract

Inflammatory myofibroblastic tumor (IMT) is an uncommon neoplasm most frequently seen in the abdomino-pelvic region and lungs of children and young adults. Laryngeal tumors are rare. We present a case of a 23-year-old patient with a 5 month history of laryngitis and aphonia unresolved by corticotherapy. Laryngoscopy revealed a small, non-ulcerated, subepithelial, polypoid mass arising from the right vocal cord. The diagnosis of IMT with ALK expression was supported by histopathologic and molecular analysis. The THBS1 fusion partner was identified by RNA-sequencing analysis for the first time in a laryngeal IMT. This fusion partner has only been identified in six uterine IMTs thus far. Conservative excision of the lesion yielded excellent functional results for the patient. The voice was preserved and no recurrences were seen after 6 months of follow-up.

摘要

炎性肌纤维母细胞瘤(IMT)是一种不常见的肿瘤,最常发生于儿童和青年的腹盆腔和肺部。喉部肿瘤较为罕见。我们报告了一例 23 岁患者,其有 5 个月的喉炎和失音病史,皮质激素治疗未能缓解。喉镜检查显示右侧声带有一小的、无溃疡的、黏膜下、息肉样肿块。组织病理学和分子分析支持 IMT 伴 ALK 表达的诊断。THBS1 融合伙伴是通过 RNA 测序分析首次在喉部 IMT 中确定的。到目前为止,该融合伙伴仅在 6 例子宫 IMT 中被发现。病变的保守切除为患者带来了极好的功能结果。患者的声音得以保留,随访 6 个月后未见复发。

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本文引用的文献

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