Abstract：
Current standard treatment for metastatic medulloblastoma consists of 36 Gray (Gy) of craniospinal irradiation (CSI) supplemented with local irradiation and adjuvant chemotherapy after surgery. Although contemporary protocols have been designed to limit a radiation dose using risk-adapted CSI dosing to reduce neurocognitive morbidity, high-dose CSI remains the standard of care. Recently, the molecular classification of medulloblastoma has been emerging but its clinical significance has not been established particularly in patients with metastatic medulloblastoma treated with lower dose of CSI.
We molecularly analyzed three cases of metastatic medulloblastoma treated with 24.0 Gy of CSI by DNA methylation analysis using the Illumina EPIC array.
All three patients had spinal metastases at the time of diagnosis. Postoperative treatment included multiple courses of chemotherapy, 24 Gy of CSI with focal boost to primary and metastatic sites, and high-dose chemotherapy. There was no disease progression observed during the 9.0, 7.7, and 5.7 years post-diagnosis follow-up. The molecular diagnosis was Group 3/4 in all three cases. Cases 1 and 2 belonged to Subtypes 7 and 4, both of which were reported to be good prognostic subtypes among the group. Case 3 belonged to Subtype 5 with MYC amplification.
The present cases suggest that the novel subtype classification in Group 3/4 medulloblastoma may be useful for risk stratification of patients with metastatic medulloblastoma who received lower dose of CSI than standard treatment.
We molecularly analyzed three cases of metastatic medulloblastoma treated with 24.0 Gy of CSI by DNA methylation analysis using the Illumina EPIC array.
All three patients had spinal metastases at the time of diagnosis. Postoperative treatment included multiple courses of chemotherapy, 24 Gy of CSI with focal boost to primary and metastatic sites, and high-dose chemotherapy. There was no disease progression observed during the 9.0, 7.7, and 5.7 years post-diagnosis follow-up. The molecular diagnosis was Group 3/4 in all three cases. Cases 1 and 2 belonged to Subtypes 7 and 4, both of which were reported to be good prognostic subtypes among the group. Case 3 belonged to Subtype 5 with MYC amplification.
The present cases suggest that the novel subtype classification in Group 3/4 medulloblastoma may be useful for risk stratification of patients with metastatic medulloblastoma who received lower dose of CSI than standard treatment.
摘要：
目的：目前转移性髓母细胞瘤的标准治疗包括36Gy（Gy）的颅脊髓照射（CSI），手术后辅以局部照射和辅助化疗。尽管当代协议已被设计为使用适应风险的CSI剂量来限制辐射剂量以降低神经认知发病率，高剂量CSI仍然是护理标准。最近,髓母细胞瘤的分子分类已经出现,但其临床意义尚未确定,特别是在接受较低剂量CSI治疗的转移性髓母细胞瘤患者中.
方法：我们使用IlluminaEPIC阵列通过DNA甲基化分析，对3例接受24.0GyCSI治疗的转移性髓母细胞瘤进行分子分析。
结果：所有3例患者在诊断时都有脊柱转移。术后治疗包括多个疗程的化疗，24Gy的CSI，局部增强至原发和转移部位，和大剂量化疗。在诊断后的9.0、7.7和5.7年随访期间未观察到疾病进展。在所有三例病例中，分子诊断均为第3/4组。病例1和2属于亚型7和4，据报道这两种亚型在该组中是良好的预后亚型。病例3属于具有MYC扩增的亚型5。
结论：目前的病例表明，3/4组髓母细胞瘤的新亚型分类可能有助于转移性髓母细胞瘤患者的风险分层，这些患者接受的CSI剂量低于标准治疗。
方法：我们使用IlluminaEPIC阵列通过DNA甲基化分析，对3例接受24.0GyCSI治疗的转移性髓母细胞瘤进行分子分析。
结果：所有3例患者在诊断时都有脊柱转移。术后治疗包括多个疗程的化疗，24Gy的CSI，局部增强至原发和转移部位，和大剂量化疗。在诊断后的9.0、7.7和5.7年随访期间未观察到疾病进展。在所有三例病例中，分子诊断均为第3/4组。病例1和2属于亚型7和4，据报道这两种亚型在该组中是良好的预后亚型。病例3属于具有MYC扩增的亚型5。
结论：目前的病例表明，3/4组髓母细胞瘤的新亚型分类可能有助于转移性髓母细胞瘤患者的风险分层，这些患者接受的CSI剂量低于标准治疗。
