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一名儿科患者中具有婴儿型纤维肉瘤样形态的KIAA1549-BRAF基因融合梭形细胞肉瘤:病例报告

KIAA1549-BRAF Gene Fusion Spindle Cell Sarcoma With Infantile Fibrosarcoma-Like Pattern in a Pediatric Patient: A Case Report.

作者信息

Abualola Rawan A, Al-Zaid Tariq

机构信息

Anatomic Pathology, King Fahad Medical City, Riyadh, SAU.

Anatomic Pathology, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.

出版信息

Cureus. 2024 Jan 9;16(1):e51981. doi: 10.7759/cureus.51981. eCollection 2024 Jan.

Abstract

Spindle cell sarcoma with fusion is a type of childhood sarcoma that closely resembles infantile fibrosarcoma by morphologic criteria and harbors molecular alteration other than the fusion gene. This neoplasm was diagnostically challenging without molecular tests, including next-generation sequencing. The discovery of translocation in this tumor contributes to the promise of the clinical implication of selecting new therapeutic options for the treatment of progressive diseases that are refractory to conventional chemotherapy. Here we present the case of a three-year-old girl who was diagnosed with spindle cell sarcoma with fusion gene and had a favorable outcome three years after surgery.

摘要

伴有融合的梭形细胞肉瘤是一种儿童肉瘤,根据形态学标准,它与婴儿纤维肉瘤极为相似,且除了融合基因外还存在分子改变。在没有包括下一代测序在内的分子检测的情况下,这种肿瘤的诊断具有挑战性。该肿瘤中易位的发现为选择针对传统化疗难治的进展性疾病的新治疗方案的临床应用前景带来了希望。在此,我们报告一例三岁女孩的病例,她被诊断为伴有融合基因的梭形细胞肉瘤,术后三年预后良好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a9f3/10857886/3ed354a23e5a/cureus-0016-00000051981-i01.jpg

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