采用 NanoString 检测方法对小儿髓母细胞瘤进行分子亚群分组，并与免疫组织化学方法进行比较。
Molecular subgrouping of medulloblastoma in pediatric population using the NanoString assay and comparison with immunohistochemistry methods.
机构信息
Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, Republic of Korea.
Department of Pathology, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
出版信息
BMC Cancer. 2022 Nov 28;22(1):1221. doi: 10.1186/s12885-022-10328-6.
PURPOSE
Molecular subgrouping of medulloblastoma has become important due to its impact on risk group stratification. Immunohistochemistry (IHC) has been widely used but it has innate limitations. The NanoString assay has been proposed as an alternative method. This study aims to present the characteristics of medulloblastoma subgrouped by the NanoString assay and to compare the subgrouping results with the IHC method.
METHODS
Pediatric patients with histological diagnosis of medulloblastoma who underwent surgery from 2007 to 2021 were included. Clinical characteristics, pathological findings were reviewed. Molecular subgrouping was performed by IHC and by NanoString nCounter Elements TagSets assay. Test for concordance between two methods was made.
RESULTS
Among a total of 101 patients analyzed, subgrouping using the NanoString assay resulted in 14 (13.8%) WNT, 20 (19.8%) SHH, 18 (17.8%) Group 3, and 39 (38.6%) Group 4 subgroup cases. Survival analysis revealed the following from best to worse prognosis: WNT, Group 4, SHH, and Group 3. In SHH subgroup the large cell/anaplastic histology was present in 30% of cases. Seventy-one cases were analyzed for concordance between NanoString and IHC. Cohen's kappa value indicated moderate agreement but identification of Groups 3 and 4 with IHC using NPR3 and KCNA1 markers exhibited poor results.
CONCLUSIONS
The NanoString assay of Korean medulloblastoma patients revealed a more aggressive clinical course in the SHH subgroup which may be explained by a higher proportion of large cell/anaplastic histology being present in this subgroup. IHC did not distinguish Group 3 or 4 accurately. The NanoString assay may represent a good alternative method for practical use in the clinical field.
目的
由于对风险分层的影响，神经母细胞瘤的分子亚组已变得很重要。免疫组织化学（IHC）已被广泛应用，但它具有内在的局限性。NanoString 检测已被提议作为替代方法。本研究旨在介绍通过 NanoString 检测对神经母细胞瘤进行亚组分析的特点，并比较亚组分析结果与 IHC 方法。
方法
纳入 2007 年至 2021 年间接受手术治疗的组织学诊断为神经母细胞瘤的儿科患者。回顾了临床特征和病理发现。通过 IHC 和 NanoString nCounter Elements TagSets 检测进行分子亚组分析。对两种方法的一致性进行了检验。
结果
在总共分析的 101 例患者中，使用 NanoString 检测的亚组分析结果为 14 例（13.8%）WNT、20 例（19.8%）SHH、18 例（17.8%）Group 3 和 39 例（38.6%）Group 4。生存分析结果显示预后从最好到最差依次为：WNT、Group 4、SHH 和 Group 3。在 SHH 亚组中，30%的病例存在大细胞/间变性组织学。对 71 例患者进行了 NanoString 和 IHC 之间的一致性分析。Cohen's kappa 值表明存在中度一致性，但使用 NPR3 和 KCNA1 标志物的 IHC 对 Group 3 和 4 的识别结果不佳。
结论
韩国神经母细胞瘤患者的 NanoString 检测显示 SHH 亚组的临床过程更为侵袭性，这可能是由于该亚组中存在更高比例的大细胞/间变性组织学所致。IHC 不能准确区分 Group 3 或 4。NanoString 检测可能是临床实践中一种很好的替代方法。
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