Mahdi Jasia, Shah Amish C, Sato Aimee, Morris Stephanie M, McKinstry Robert C, Listernick Robert, Packer Roger J, Fisher Michael J, Gutmann David H
From the Departments of Neurology (J.M., S.M.M., D.H.G.) and Radiology (R.C.M.), Washington University School of Medicine, St. Louis, MO; Division of Oncology (A.C.S., M.J.F.), Children's Hospital of Philadelphia, PA; Center for Neuroscience of Behavioral Medicine (A.S., R.J.P.), Children's National Medical Center, Washington, DC; Division of Academic General Pediatrics (R.L.), Feinberg School of Medicine, Northwestern University, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; and Department of Pediatrics (M.J.F.), The Perelman School of Medicine at The University of Pennsylvania, Philadelphia.
Neurology. 2017 Apr 18;88(16):1584-1589. doi: 10.1212/WNL.0000000000003881. Epub 2017 Mar 22.
To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1).
We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criteria. Age at diagnosis, tumor location and appearance, clinical symptoms, treatment, and presence of a concurrent optic pathway glioma were assessed.
The average age at BSG diagnosis was 7.2 years, and tumors occurred most often in the midbrain and medulla (66%). The majority of children with NF1-BSGs were asymptomatic (54%) and were not treated (88%). Only 9 of the 72 asymptomatic children received treatment because of progressive tumor enlargement. In contrast, 61 children presented with clinical signs/symptoms attributable to their BSG; these individuals were older and more often had focal lesions. Thirty-one patients underwent treatment for their tumor, and 14 received CSF diversion only. Progression-free survival was ∼3 years shorter for children receiving tumor-directed therapy relative to those who had either no treatment or CSF diversion only. Overall survival was 85% for the tumor-directed therapy group, whereas no deaths were reported in the untreated or CSF diversion groups.
Unlike children with sporadically occurring BSGs, most children with NF1-BSGs were asymptomatic, and few individuals died from complications of their tumor. Those requiring tumor-directed treatment tended to be older children with focal lesions, and had clinically more aggressive disease relative to those who were not treated or underwent CSF diversion only.
明确1型神经纤维瘤病（NF1）患儿脑干胶质瘤（BSG）的临床和影像学特征。
我们对4个NF1转诊中心诊治的133例患有NF1并发BSG的儿童进行了回顾性横断面研究。采用影像学标准确定BSG。评估诊断时的年龄、肿瘤位置和表现、临床症状、治疗情况以及是否并发视神经通路胶质瘤。
BSG诊断时的平均年龄为7.2岁，肿瘤最常发生于中脑和延髓（66%）。大多数NF1-BSG患儿无症状（54%）且未接受治疗（88%）。72例无症状患儿中只有9例因肿瘤进行性增大而接受治疗。相比之下，61例患儿出现了与BSG相关的临床体征/症状；这些患儿年龄较大，且更常出现局灶性病变。31例患者接受了肿瘤治疗，14例仅接受了脑脊液分流术。相对于未接受治疗或仅接受脑脊液分流术的患儿，接受肿瘤定向治疗的患儿无进展生存期缩短约3年。肿瘤定向治疗组的总生存率为85%，而未治疗组或脑脊液分流组均未报告死亡病例。
与散发性BSG患儿不同，大多数NF1-BSG患儿无症状，很少有人死于肿瘤并发症。那些需要接受肿瘤定向治疗的患儿往往是年龄较大且有局灶性病变的患儿，相对于未接受治疗或仅接受脑脊液分流术的患儿，其临床疾病更具侵袭性。
