Department of Orthopaedic Surgery, Bellland General Hospital, Japan; Osaka University Graduate School of Medicine Orthopaedic Surgery, Japan.
Department of Orthopaedic Surgery, Bellland General Hospital, Japan.
J Orthop Sci. 2021 Nov;26(6):1138-1142. doi: 10.1016/j.jos.2018.12.008. Epub 2019 Jan 2.
To describe two cases of intra-articular nodular fasciitis (NF) which developed within the knee joint and were associated with the expression of the MYH9-USP6 gene fusion.
Two women, 30 and 56 years of age, with no history of joint disease or knee joint trauma, are presented in our cases. We report these cases describing the clinical presentation, assessment, histopathological examination, gene expression, and clinical management.
Both patients presented with knee pain and limitation in the range of flexion. We diagnosed our two cases as intraarticular nodular fasciitis based on histological findings and by the detection of the MYH9-USP6 gene fusion. The transcript of MYH9-USP6 gene fusion was identified by RT-PCR and direct sequencing in both cases.
We report the first cases of intra-articular NF involving the knee joint, with identification of a MYH9-USP6 gene fusion by RT-PCR. NF should be considered in the differential diagnosis of intra-articular lesions.
描述两例发生于膝关节内的关节内结节性筋膜炎（NF）病例，这些病例与 MYH9-USP6 基因融合的表达有关。
我们报告了两例女性病例，年龄分别为 30 岁和 56 岁，均无关节疾病或膝关节外伤史。我们描述了这些病例的临床表现、评估、组织病理学检查、基因表达和临床处理。
两名患者均表现为膝关节疼痛和活动度受限。根据组织学发现和 MYH9-USP6 基因融合的检测，我们将这两例患者诊断为关节内结节性筋膜炎。在两个病例中，均通过 RT-PCR 和直接测序鉴定出 MYH9-USP6 基因融合的转录本。
我们报告了首例累及膝关节的关节内 NF 病例，通过 RT-PCR 鉴定出 MYH9-USP6 基因融合。NF 应在关节内病变的鉴别诊断中考虑。
