Skitchenko Rostislav, Dinikina Yulia, Smirnov Sergey, Krapivin Mikhail, Smirnova Anna, Morgacheva Daria, Artomov Mykyta
Almazov National Medical Research Centre, St. Petersburg, Russia.
Computer Technologies Laboratory, ITMO University, St. Petersburg, Russia.
Front Oncol. 2023 Jan 12;12:1085947. doi: 10.3389/fonc.2022.1085947. eCollection 2022.
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: , , and .
髓母细胞瘤（MB）是最常见的儿童脑肿瘤，约占所有儿童脑肿瘤的20%，占颅内胚胎性肿瘤的63%。MB被认为起源于脑早期发育过程中存在的前体细胞群。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100万儿童中有5例。MB的WNT亚型的特点是缓解概率高，长期生存率约为90%。然而，在一些罕见情况下，可能会有转移活性增加，这大大降低了良好预后的可能性。在这里，我们报告两例组织学模式与促结缔组织增生性/结节性（DP）和经典MB一致，且基因分类为WNT-MB的MB病例。两例均显示在微管相关基因中鉴定出的推定因果性体细胞蛋白截短突变： 、 和 。
