Gomes Carolina Cavaliéri, Bastos Victor Coutinho, El Mouatani Ahmed, Duarte-Andrade Filipe Fideles, Jabado Nada, de Castro Wagner Henriques, Gomez Ricardo Santiago
Department of Pathology Biological Science Institute, Universidade Federal de Minas Gerais Belo Horizonte Brazil.
Department of Human Genetics McGill University Montreal Canada.
Clin Case Rep. 2024 Aug 5;12(8):e9265. doi: 10.1002/ccr3.9265. eCollection 2024 Aug.
Whole-exome sequencing (WES) analysis of an expansive case florid cemento-osseus dysplasia were reported for the first time. Also, the new potential candidate genes were reported to expand our knowledge about their molecular pathogenesis.
We report a case of expansive florid cemento-osseus dysplasia in a 32-year-old female patient who presented an expansive tumoral lesion in the anterior mandible. As florid cemento-osseus dysplasia have only been molecularly investigated using targeted-sequencing, fragments of the lesion were collected and subjected to molecular investigation using WES to assess somatic mutations as well as copy number alterations. No gains and losses of chromosomal arms or segments longer than 1 Mb were detected. Our findings revealed a pathogenic stopgain variant at the KIF5C gene, a stoploss variant at MAPK10, and missense SNV at COL6A2 at DCDC1, suggesting potential candidate genes associated with florid cemento-osseus dysplasia.
首次报道了对一例广泛性 florid 骨水泥发育异常病例进行全外显子组测序（WES）分析。此外，还报道了新的潜在候选基因，以扩展我们对其分子发病机制的认识。
我们报告了一例 32 岁女性患者的广泛性 florid 骨水泥发育异常病例，该患者下颌前部出现一个广泛性肿瘤性病变。由于 florid 骨水泥发育异常仅通过靶向测序进行过分子研究，因此收集了病变组织碎片，并使用 WES 进行分子研究，以评估体细胞突变以及拷贝数改变。未检测到染色体臂或长度超过 1 Mb 的片段的增减。我们的研究结果揭示了 KIF5C 基因的一个致病性终止获得变异、MAPK10 的一个终止缺失变异以及 COL6A2 在 DCDC1 处的错义单核苷酸变异，提示这些基因可能是与 florid 骨水泥发育异常相关的潜在候选基因。
