辛普森-戈拉比-贝梅尔综合征1型在一个新生儿与中央肝细胞瘤
Emine A Rahiman1, Vasudev Bhat2, Naveena Kumar3
1Pediatric Oncology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India emine.rahiman@manipal.edu.
BMJ case reports
|January 29, 2025
概括
一名新生儿被诊断患有肝细胞瘤,一种罕见的儿童癌症,被发现患有辛普森-戈拉比-贝梅尔综合征1型 (SGBS1). 早期诊断和治疗导致缓解,强调了对先天性过度生长条件的遗传评估的重要性.
科学领域:
- 儿科瘤学 儿科瘤学
- 临床遗传学 临床遗传学
- 医疗恶性病变 医学恶性病变
背景情况:
- 肝母细胞瘤是一种罕见的儿童肝癌.
- 先天性过度生长综合征可以使个体易患某些恶性瘤.
- 新生儿呈现出具有异形特征的肝壮病,需要进行彻底的遗传调查.
研究的目的:
- 报告与辛普森-戈拉比-贝梅尔综合征1型 (SGBS1) 相关的新生儿肝母细胞瘤病例.
- 在遗传综合征的背景下讨论肝细胞瘤的诊断方法和管理.
- 突出跨学科护理和长期监测患有癌症易发症的儿童的重要性.
主要方法:
- 临床评估肝病巨变和先天性异常.
- 基因检测用于识别致病变体.
- 新辅助化疗,然后进行手术切除 (中央肝切除术).
- 术内成像用于手术指导.
主要成果:
- 一名被诊断患有肝母细胞瘤的新生儿被确定具有SGBS1.1的致病变体.
- 患者接受了新辅助化疗,并成功接受了中央肝切除术.
- 这名儿童已经缓解了病情,目前正在接受长期随访.
结论:
- 新生儿肝母细胞瘤在异形和先天异常存在时,表明有潜在的遗传综合征,如SGBS1.1.
- 多学科护理对于管理复杂的儿科病例与多系统参与至关重要.
- 新辅助化疗和先进的外科手术技术改善了广泛的肝切除的结果.
- 长期的癌症监测对于患有癌症倾向条件的人来说至关重要.
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