Odukoya Lateef A, Ida Cristiane M, Eckel-Passow Jeanette E, Kollmeyer Thomas M, Vaubel Rachael, Lachance Daniel H, Fonkem Ekokobe, Badmos Kabir B, Bankole Olufemi B, Llewellyn Henry, Kitange Gasper J, Aldape Kenneth, Daramola Adetola O, Anunobi Charles C, Jenkins Robert B
Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MinnesotaUSA.
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MinnesotaUSA.
Neurooncol Pract. 2024 Jun 22;11(6):753-762. doi: 10.1093/nop/npae059. eCollection 2024 Dec.
The optimal diagnosis and management of patients with brain tumors currently uses the 2021 WHO integrated diagnosis of histomorphologic and molecular features. However, neuro-oncology practice in resource-limited settings usually relies solely on histomorphology. This study aimed to classify glioma cases diagnosed in the Department of Anatomic and Molecular Pathology, Lagos University Teaching Hospital, using the 2021 WHO CNS tumor classification.
Fifty-six brain tumors from 55 patients diagnosed with glioma between 2013 and 2021 were reevaluated for morphologic diagnosis. Molecular features were determined from formalin-fixed paraffin-embedded (FFPE) tissue using immunohistochemistry (IHC) for IDH1-R132H, ATRX, BRAF-V600E, p53, Ki67, and H3-K27M, OncoScan chromosomal microarray for copy number, targeted next generation sequencing for mutation and fusion and methylation array profiling.
Of 55 central nervous system tumors, 3 were excluded from histomorphologic reevaluation for not being of glial or neuroepithelial origin. Of the remaining 52 patients, the median age was 20.5 years (range: 1 to 60 years), 38(73%) were males and 14(27%) were females. Seventy-one percent of the gliomas evaluated provided adequate DNA from archival FFPE tissue blocks. After applying the 2021 WHO diagnostic criteria the initial morphologic diagnosis changed for 35% (18/52) of cases. Diagnoses of 5 (9.6%) gliomas were upgraded, and 7 (14%) were downgraded.
This study shows that the incorporation of molecular testing can considerably improve brain tumor diagnoses in Nigeria. Furthermore, this study highlights the diagnostic challenges in resource-limited settings and what is at stake in the global disparities of brain tumor diagnosis.
目前,脑肿瘤患者的最佳诊断和管理采用2021年世界卫生组织(WHO)组织形态学和分子特征的综合诊断方法。然而,资源有限地区的神经肿瘤学实践通常仅依赖组织形态学。本研究旨在使用2021年WHO中枢神经系统肿瘤分类法,对拉各斯大学教学医院解剖与分子病理科诊断的胶质瘤病例进行分类。
对2013年至2021年间诊断为胶质瘤的55例患者的56个脑肿瘤进行重新评估以进行形态学诊断。使用免疫组织化学(IHC)检测异柠檬酸脱氢酶1(IDH1)-R132H、α地中海贫血/智力发育迟缓综合征X连锁基因(ATRX)、B-Raf原癌基因丝氨酸/苏氨酸激酶(BRAF)-V600E、p53、Ki-67和组蛋白H3赖氨酸27位点甲基化(H3-K27M),从福尔马林固定石蜡包埋(FFPE)组织中确定分子特征,使用OncoScan染色体微阵列检测拷贝数,使用靶向二代测序检测突变和融合以及甲基化阵列分析。
在55个中枢神经系统肿瘤中,3个因非神经胶质或神经上皮起源而被排除在组织形态学重新评估之外。在其余52例患者中,中位年龄为20.5岁(范围:1至60岁),38例(73%)为男性,14例(27%)为女性。71%的评估胶质瘤从存档的FFPE组织块中获得了足够的DNA。应用2021年WHO诊断标准后,35%(18/52)的病例初始形态学诊断发生了变化。5例(9.6%)胶质瘤的诊断被升级,7例(14%)被降级。
本研究表明,分子检测的纳入可以显著改善尼日利亚的脑肿瘤诊断。此外,本研究突出了资源有限地区的诊断挑战以及脑肿瘤诊断全球差异中的利害关系。