首次在伴有动脉瘤样骨囊肿的青少年砂粒体型骨化性纤维瘤（JPOF）的 SETD2 基因中发现移码突变。
First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst.
机构信息
Division of Oral and Maxillofacial Surgery, Medical University of Graz, Auenbruggerplatz 5, 8036, Graz, Austria.
Division of Dental Medicine and Oral Health, Medical University of Graz, Graz, Austria.
出版信息
Diagn Pathol. 2021 Oct 17;16(1):91. doi: 10.1186/s13000-021-01160-w.
BACKGROUND
The rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour.
CASE PRESENTATION
A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revealed multilocular radiopacity in the mandible; this was reconstructed via segmental mandibulectomy using a vascularised iliac crest flap. Based on the clinical and histological findings, we diagnosed JPOF associated with an aneurysmal bone cyst. Microscopically, the solid area was characterised by many rounded or angular ossicles in a cellular fibrous stroma. The stromal cells were spindle-like or stellate. Next-generation sequencing detected a frame shift mutation of the SETD2 gene, while the copy number was normal.
CONCLUSIONS
Our findings suggest further genetic studies should be performed to assess whether this mutation is related to tumour genesis. .
背景
青少年砂粒骨样型骨纤维瘤（JPOF）罕见，且细胞遗传学研究较少，促使我们报告了一种良性牙源性肿瘤中 SETD2 基因突变的新情况。
病例介绍
一名 21 岁男性因下颌骨皮质膨胀坚硬而就诊。计算机断层扫描显示下颌骨多房性放射性不透明；通过使用带血管髂嵴皮瓣进行节段性下颌骨切除术进行重建。根据临床和组织学发现，我们诊断为 JPOF 伴动脉瘤样骨囊肿。镜下，实性区的特征是在细胞纤维基质中有许多圆形或角状的骨赘。基质细胞呈梭形或星状。下一代测序检测到 SETD2 基因突变的移码，而拷贝数正常。
结论
我们的发现表明应进一步进行遗传研究，以评估该突变是否与肿瘤发生有关。
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