Puthenpura Vidya, DeNunzio Nicholas J, Zeng Xue, Giantsoudi Drosoula, Aboian Mariam, Ebb David, Kahle Kristopher T, Yock Torunn I, Marks Asher M
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
Department of Radiation Oncology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
Int J Part Ther. 2021 Jul 29;8(3):58-65. doi: 10.14338/IJPT-21-00013.1. eCollection 2022 Winter.
Medulloblastoma is known to be associated with multiple cancer-predisposition syndromes. In this article, we explore a possible association among a patient's Aarskog-Scott syndrome, development of medulloblastoma, and subsequent brainstem radiation necrosis.
A 5-year-old male with Aarskog-Scott syndrome initially presented to his pediatrician with morning emesis, gait instability, and truncal weakness. He was ultimately found to have a posterior fossa tumor with pathology consistent with group 3 medulloblastoma. After receiving a gross total resection and standard proton beam radiation therapy with concurrent vincristine, he was noted to develop brainstem radiation necrosis, for which he underwent therapy with high-dose dexamethasone, bevacizumab, and hyperbaric oxygen therapy with radiographic improvement and clinical stabilization.
Based on several possible pathologic correlates in the FDG1 pathway, there exists a potential association between this patient's Aarskog-Scott syndrome and medulloblastoma, which needs to be investigated further. In patients with underlying, rare genetic syndromes, further caution should be taken when evaluating chemotherapy and radiation dosimetry planning.
已知髓母细胞瘤与多种癌症易感性综合征相关。在本文中，我们探讨了一名患有阿斯克格-斯科特综合征（Aarskog-Scott syndrome）的患者、髓母细胞瘤的发生以及随后的脑干放射性坏死之间可能存在的关联。
一名患有阿斯克格-斯科特综合征的5岁男性最初因晨起呕吐、步态不稳和躯干无力就诊于儿科医生。最终发现他患有后颅窝肿瘤，病理结果与3组髓母细胞瘤一致。在接受了全切除手术以及同步使用长春新碱的标准质子束放射治疗后，他被发现出现了脑干放射性坏死，为此他接受了大剂量地塞米松、贝伐单抗和高压氧治疗，影像学表现有所改善，临床症状也得以稳定。
基于FDG1途径中几种可能的病理关联，该患者的阿斯克格-斯科特综合征与髓母细胞瘤之间可能存在关联，这需要进一步研究。对于患有潜在罕见遗传综合征的患者，在评估化疗和放射剂量测定计划时应格外谨慎。
