努南综合征/ RAS病综合征相关骨肉瘤：首例病例报告
Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.
作者信息
Yousef Najwa, Basile John, Kallen Michael E, Caccamese John F, Dyalram Donita, Lubek Joshua, Valaei Farnaz, Price Jeffery, Raborn Layne N, Collins Michael T, Sultan Ahmed S
机构信息
Department of Oncology and Diagnostic Sciences, School of Dentistry, University of Maryland, Baltimore, MD, USA.
University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer Center, Baltimore, MD, USA.
出版信息
Head Neck Pathol. 2025 May 8;19(1):53. doi: 10.1007/s12105-025-01762-6.
BACKGROUND
Noonan syndrome (NS) is a developmental malformation condition in the RASopathies group, characterized by variable clinical and molecular features. The syndrome is genetically heterogeneous, with the most frequent mutation found in approximately 50% of cases occurring in the PTPN11 gene. NS is reported to be associated with neurogenic, hematopoietic, melanocytic and other visceral malignancies, but osteosarcoma development has not been reported in association with NS.
CASE REPORT
Therefore, we report the first case of a male with NS who developed osteosarcoma of the mandible in a background of long-standing polyostotic fibrous dysplasia (FD) of the craniofacial bones.
背景
努南综合征（NS）是RAS病组中的一种发育畸形病症，其临床和分子特征多样。该综合征具有遗传异质性，约50%的病例中最常见的突变发生在PTPN11基因。据报道，NS与神经源性、造血性、黑素细胞性及其他内脏恶性肿瘤有关，但尚未有NS与骨肉瘤发生相关的报道。
病例报告
因此，我们报告首例患有NS的男性患者，该患者在颅面骨长期多骨型纤维发育不良（FD）的背景下发生了下颌骨肉瘤。
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