Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Childs Nerv Syst. 2024 Jul;40(7):2227-2233. doi: 10.1007/s00381-024-06375-y. Epub 2024 Apr 18.
Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric temporoparietal cranial desmoplastic fibroma (DF) with a CTNNB1 gene mutation and review the previous literature.
A 3-year-old boy had a firm, painless mass on the right temporoparietal region for 22 months. The cranial CT scan showed isolated osteolytic destruction in the outer plate and diploe of the right temporoparietal bone. Gross total resection of the lesion and cranioplasty were performed. After that, a growing epidural hematoma was observed so another operation was performed to remove the artificial titanium plate. Postoperative pathology indicated a DF diagnosis and molecular pathology suggested a missense mutation in exon 3 of the CTNNB1 gene (c.100G > A,p.Gly34Arg).
Pediatric cranial DF is rare and easy to be misdiagnosed before operation. For cranial DF, lesion resection can be performed and perioperative management should be strengthened. Mutations in the CTNNB1 gene might be one of the molecular pathologic features of DF.
促纤维增生性纤维瘤（DF）是一种罕见的中间型骨肿瘤，很少累及颅骨，其发病机制尚未明确。我们报告首例儿童颞顶颅骨促纤维增生性纤维瘤（DF）伴 CTNNB1 基因突变，并复习相关文献。
1 名 3 岁男孩，22 个月前右侧颞顶部出现质硬、无痛性肿块。头颅 CT 扫描显示右侧颞顶骨外板及板障孤立性溶骨性破坏。行病变全切除及颅骨修补术，术后发现逐渐增大的硬脑膜外血肿，再次行手术切除人工钛板。术后病理诊断为 DF，分子病理学提示 CTNNB1 基因第 3 外显子存在错义突变（c.100G>A，p.Gly34Arg）。
儿童颅 DF 罕见，术前易误诊。颅 DF 可行病灶切除术，需加强围手术期管理。CTNNB1 基因突变可能是 DF 的分子病理学特征之一。
