Ledinek Živa, Stefanović Milica, Mavčič Blaž, Mazić Maja Česen, Gazikalović Ana, Šekoranja Daja, Miceska Simona, Prevodnik Veronika Kloboves
Department of Pathology, University Medical Centre Maribor, Maribor, Slovenia.
Department of Pathology, Faculty of Medicine, University of Maribor, Maribor, Slovenia.
Diagn Cytopathol. 2025 Jul;53(7):E138-E143. doi: 10.1002/dc.25477. Epub 2025 Apr 22.
Myositis ossificans (MO) is a benign soft tissue lesion, characterized by ectopic ossification due to inappropriate fibroblast differentiation, most commonly affecting skeletal muscles. It often occurs in young adults after muscle trauma, predominantly in male patients and very rarely in children. We describe the case of a previously healthy 3-year-old boy who developed a lesion in his deltoid muscle after vaccination against tick-borne encephalitis. During an MRI scan, performed under general anesthesia, fine needle aspiration biopsy (FNAB) and core needle biopsy (CNB) were performed. While the CNB sample resulted in a non-diagnostic finding, the FNAB sample showed cytomorphology consistent with the diagnosis of MO. A molecular analysis performed on the FNAB sample confirmed the presence of COL1A1::USP6 fusion, which is considered diagnostic for MO in the appropriate clinical context. The boy was then referred to the orthopedic surgeon. Extracorporeal shock-wave therapy was chosen as the first-line treatment, but as it was too painful, the lesion was surgically removed, and histopathologic evaluation confirmed the diagnosis. Although rare in children, the diagnosis of MO should be considered in soft tissue lesions after trauma. We present the first pediatric case of MO diagnosed by FNAB and propose that FNAB, as a minimally invasive diagnostic procedure, is a suitable diagnostic approach, especially when molecular testing is available to confirm the diagnosis.
骨化性肌炎(MO)是一种良性软组织病变,其特征是由于成纤维细胞异常分化导致异位骨化,最常累及骨骼肌。它常发生于肌肉创伤后的年轻成年人,男性患者居多,儿童极为罕见。我们报告一例此前健康的3岁男孩,在接种蜱传脑炎疫苗后三角肌出现病变。在全身麻醉下进行磁共振成像(MRI)扫描时,同时进行了细针穿刺活检(FNAB)和粗针穿刺活检(CNB)。虽然CNB样本结果未明确诊断,但FNAB样本的细胞形态学表现与MO诊断相符。对FNAB样本进行的分子分析证实存在COL1A1::USP6融合,在适当的临床背景下,这被认为是MO的诊断依据。随后该男孩被转诊至骨科医生处。体外冲击波治疗被选为一线治疗方法,但由于过于疼痛,最终通过手术切除了病变,组织病理学评估证实了诊断。尽管MO在儿童中罕见,但对于创伤后软组织病变应考虑MO的诊断。我们报告了首例通过FNAB诊断的儿童MO病例,并提出FNAB作为一种微创诊断方法,是一种合适的诊断途径,尤其是在可进行分子检测以确诊的情况下。