Department of Neurosurgery, Louisiana State University Health Shreveport School of Medicine, 1501 Kings Highway, 3-408C, Shreveport, LA, 71105, USA.
Department of Pathology, Louisiana State University Health Shreveport School of Medicine, Shreveport, LA, USA.
Childs Nerv Syst. 2022 Sep;38(9):1783-1789. doi: 10.1007/s00381-022-05478-8. Epub 2022 Mar 7.
Li-Fraumeni syndrome is a cancer predisposition condition associated with various tumor types. We present the case of a 6-year-old boy who initially presented with a pituitary adenoma that was successfully treated with surgery. It ultimately recurred, requiring further surgical intervention followed by proton beam therapy. He later developed a medulloblastoma, and genetic testing revealed TP53 germline mutation. The patient underwent gross total resection of this medulloblastoma, followed by proton-based craniospinal irradiation and adjuvant chemotherapy. He remained disease-free 12 months after radiation and 7 months after chemotherapy. Current literature does not report pituitary adenoma as the initial central nervous manifestation in Li-Fraumeni syndrome. Early genetic testing should be considered in pediatric patients who present with such rare tumor types to help identify cancer predisposing conditions. Furthermore, as evidenced by our case, the management of multiple brain tumors in the pediatric population poses challenges. A multidisciplinary approach involving neurosurgery, pediatric oncology, pathology, and radiation oncology remains crucial to optimize patient outcomes.
李-佛美尼综合征是一种与多种肿瘤类型相关的癌症易感性疾病。我们报告了一例 6 岁男孩的病例，他最初表现为垂体腺瘤，经手术成功治疗。但最终复发，需要进一步手术干预和质子束治疗。后来他又患上了髓母细胞瘤，基因检测显示 TP53 种系突变。该患者接受了全切除手术，随后进行了质子颅脊放疗和辅助化疗。在放疗后 12 个月和化疗后 7 个月，他仍然没有疾病迹象。目前的文献没有报道垂体腺瘤是李-佛美尼综合征的首发中枢神经系统表现。对于出现这种罕见肿瘤类型的儿科患者，应考虑早期进行基因检测，以帮助确定癌症易感性疾病。此外，正如我们的病例所示，儿科人群中多种脑肿瘤的治疗具有挑战性。涉及神经外科、儿科肿瘤学、病理学和放射肿瘤学的多学科方法仍然是优化患者结局的关键。
