一例伴有新型CDK12和DDR2突变的新生儿骨纤维发育不良病例。
A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations.
作者信息
Alodaini Amal A, Abusultan Ammar, Altarooti Noor A, Aldossari Asma, Hegazi Tarek M, Alomran Ammar K, Awadalla Awadia S
机构信息
Pathology Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia.
Orthopedic surgery Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia.
出版信息
Bone Rep. 2023 Feb 23;18:101666. doi: 10.1016/j.bonr.2023.101666. eCollection 2023 Jun.
Osteofibrous dysplasia [OFD] is a rare, benign pediatric fibro-osseous lesion that exclusively arises in the lower limbs. Apart from the limited number of familial OFD cases with MET mutation, no other genetic aberrations have been identified. Herein, we report a case of OFD in a four-month- old girl's leg with novel cyclin-dependent kinase 12 and discoidin domain receptor 2 gene mutations. Further studies to understand their role in the pathogenesis and clinical utility are needed.
骨纤维发育异常[OFD]是一种罕见的良性儿童纤维性骨病变，仅发生于下肢。除了少数伴有MET突变的家族性OFD病例外，尚未发现其他基因异常。在此，我们报告一例4个月大女童腿部的OFD病例，该病例存在新的细胞周期蛋白依赖性激酶12和盘状结构域受体2基因突变。需要进一步研究以了解它们在发病机制中的作用和临床应用价值。
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