Kang Min-Chae, Kong Sun-Young, Park Sang-Yoon, Park Seog-Yun, Lee Eun-Gyeong, Yoo Chong Woo, Kim Yun Hwan, Kim Hyeji, Choi Wonyoung
Division of Rare and Refractory Cancer, National Cancer Center, Goyang, Republic of Korea.
Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy, Goyang, Republic of Korea.
Front Oncol. 2024 Oct 8;14:1422605. doi: 10.3389/fonc.2024.1422605. eCollection 2024.
(BRG1) is a core unit of the SWI/SNF complex, regulating gene transcription through chromatin remodeling. Germline variants have been reported to be associated with various malignancies. Here, we report the first case of extraskeletal Ewing sarcoma in a young female patient with a germline pathogenic variant of (c.3546 + 1G>A), diagnosed with next generation sequencing (NGS). This alteration was also identified in her familial lineage, including her sister who was previously diagnosed with small cell carcinoma of the ovary, hypercalcemic type, a malignancy highly associated with mutations. Despite undergoing radical surgery and receiving systemic treatments including VeIP (vinblastine, ifosfamide, cisplatin), and VDC (vincristine, doxorubicin, cyclophosphamide) regimens, the patient succumbed to death due to disease progression. With the implementation of NGS, we anticipate that more cases with mutations will be diagnosed in the future. Further research is necessary to unveil therapeutic targets associated for this oncogenic alteration.
（BRG1）是SWI/SNF复合物的核心单元，通过染色质重塑调节基因转录。据报道，种系变异与多种恶性肿瘤有关。在此，我们报告了首例患有种系致病性变异（c.3546 + 1G>A）的年轻女性患者发生的骨外尤文肉瘤，该病例通过下一代测序（NGS）确诊。在她的家族谱系中也发现了这种改变，包括她的姐姐，她的姐姐之前被诊断为高钙血症型卵巢小细胞癌，这是一种与 突变高度相关的恶性肿瘤。尽管接受了根治性手术并接受了包括VeIP（长春碱、异环磷酰胺、顺铂）和VDC（长春新碱、阿霉素、环磷酰胺）方案在内的全身治疗，但患者因疾病进展而死亡。随着NGS的应用，我们预计未来将诊断出更多携带 突变的病例。有必要进行进一步研究以揭示与这种致癌改变相关的治疗靶点。
