Rahiman Emine A, Bhat Vasudev, Kumar Naveena, Mathai Sheila Samanta
Pediatric Oncology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India
Pediatric Oncology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
BMJ Case Rep. 2025 Jan 29;18(1):e262331. doi: 10.1136/bcr-2024-262331.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1). The child was treated with neoadjuvant chemotherapy followed by central hepatectomy and is currently in remission. We discuss the predisposing syndromes for hepatoblastoma, as the neonatal onset of malignancy in the setting of dysmorphism and congenital anomalies led us to the molecular diagnosis. Children with multisystem involvement require interdisciplinary care, which is detailed. The role of neoadjuvant chemotherapy in facilitating extensive liver resection and the use of technological advancement like intraoperative imaging that can aid definitive resection is discussed. Long-term follow-up for surveillance of primary cancers is crucial in the comprehensive care of cancer-predisposing conditions, the recommendations of which are listed.
我们报告了一名在住院期间因肝肿大接受评估的新生儿，被诊断为肝母细胞瘤，这是一种罕见的儿童恶性肿瘤。患儿存在畸形、巨大儿和先天性心脏缺陷，这引发了对先天性过度生长疾病的怀疑。基因评估发现了一个致病变异，确诊为1型辛普森-戈拉比-贝梅尔综合征（SGBS1）。该患儿接受了新辅助化疗，随后进行了肝中叶切除术，目前处于缓解期。我们讨论了肝母细胞瘤的易感综合征，因为在畸形和先天性异常背景下出现的新生儿期恶性肿瘤促使我们进行分子诊断。涉及多系统的儿童需要跨学科护理，本文对此进行了详细阐述。讨论了新辅助化疗在促进广泛肝切除中的作用，以及术中成像等技术进步在辅助确定性切除中的应用。对原发性癌症进行长期随访监测对于癌症易感疾病的综合护理至关重要，本文列出了相关建议。
