METHODS: NB cases (n = 50) diagnosed over last 7 years were retrospectively analysed for MYCN amplification (fluorescent-in-situ hybridization), TERT rearrangements (qRT-PCR), ATRX mutations (immunohistochemistry). These findings were correlated with demographic profiles, histologic features and clinical outcome.
RESULTS: Age ranged from 1 month to 30 years (mean 2.8 years) with male preponderance. Poorly differentiated subtype constituted the majority (64%), followed by differentiating (28%) and undifferentiated subtype (8%) which were equally distributed across all age groups. MYCN amplification, TERT-mRNA upregulation and ATRX mutations was observed in 30%, 42% and 24%, respectively. Cases with TERT-mRNA upregulation were distributed equally across all histological subtypes while those with ATRX mutations and MYCN amplification were frequent in poorly differentiated NB. ATRX mutation was mutually exclusive of TERT-mRNA upregulation and MYCN amplification. Kaplan-Meier analysis revealed significantly shorter overall and progression-free survival for tumors harboring MYCN amplification and TERT-mRNA upregulation, while that for ATRX mutant tumors was not significant.
CONCLUSIONS: Our results provide data indicating poor clinical outcome in NB carrying MYCN amplification and TERT-mRNA upregulation.
方法:过去7年确诊的NB病例(n=50)回顾性分析MYCN扩增(荧光原位杂交),TERT重排(qRT-PCR),ATRX突变(免疫组织化学)。这些发现与人口统计学特征相关,组织学特征和临床结果。
结果:年龄1个月至30岁(平均2.8岁),男性占优势。低分化亚型占大多数(64%),其次是分化(28%)和未分化亚型(8%),它们在所有年龄组中分布均匀。MYCN扩增,在30%中观察到TERT-mRNA上调和ATRX突变,42%和24%,分别。TERT-mRNA上调的病例在所有组织学亚型中分布均匀,而ATRX突变和MYCN扩增的病例在低分化NB中频繁发生。ATRX突变与TERT-mRNA上调和MYCN扩增互斥。Kaplan-Meier分析显示,MYCN扩增和TERT-mRNA上调的肿瘤的总生存期和无进展生存期显著缩短,而对于ATRX突变肿瘤则不显著。
结论:我们的结果提供的数据表明,携带MYCN扩增和TERT-mRNA上调的NB的临床结局较差。