髓母细胞瘤(MB)是最常见的小儿脑肿瘤,约占所有小儿脑肿瘤的20%和颅内胚胎肿瘤的63%。MB被认为来自早期脑发育期间存在的前体细胞群体。大多数MB病例(约70%)发生在1-4岁和5-9岁,但在成人中也很少见。儿童肿瘤的年总发病率约为每100万儿童5例。WNT亚型MB的特点是缓解的可能性很高,长期生存率约为90%。然而,在一些罕见的情况下,转移活动可能会增加,这大大降低了有利结果的可能性。在这里,我们报告了2例MB,其组织学模式与促纤维增生/结节(DP)和经典MB一致,基因分类为WNT-MB。两种情况都显示了在微管相关基因中鉴定出的推定的因果体细胞蛋白截断突变:ARID2,TUBB4A,ANK3
Medulloblastoma (MB) is the most common pediatric brain tumor which accounts for about 20% of all pediatric brain tumors and 63% of intracranial embryonal tumors. MB is considered to arise from precursor cell populations present during an early brain development. Most cases (~70%) of MB occur at the age of 1-4 and 5-9, but are also infrequently found in adults. Total annual frequency of pediatric tumors is about 5 cases per 1 million children.
WNT-subtype of MB is characterized by a high probability of remission, with a long-term survival rate of about 90%. However, in some rare cases there may be increased metastatic activity, which dramatically reduces the likelihood of a favorable outcome. Here we report two cases of MB with a histological pattern consistent with desmoplastic/nodular (DP) and classic MB, and genetically classified as
WNT-MB. Both cases showed putative causal somatic protein truncating mutations identified in microtubule-associated genes: ARID2, TUBB4A, and ANK3.