Yamamoto Nobuyuki, Ishizawa Kikyo, Umemoto Mayuno, Nishimura Akihiro, Fujikawa Tomoko, Inoue Shotaro, Nakatani Naoko, Tamura Akihiro, Nino Nanako, Uemura Suguru, Hasegawa Daiichiro, Kosaka Yoshiyuki, Nishimura Noriyuki
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Department of Public Health, Kobe University Graduate School of Health Science, 7-10-2 Tomogaoka, Suma-ku, Kobe, 654-0142, Japan.
Mol Diagn Ther. 2025 May 31. doi: 10.1007/s40291-025-00788-4.
Neuroblastoma (NB) is a pediatric extracranial solid tumor that accounts for approximately 15% of all pediatric cancer deaths. More than 50% of patients with newly diagnosed NB are classified into a high-risk group with an approximately 50% long-term survival rate. Although most high-risk patients with NB achieve remission, more than half may have minimal residual disease (MRD) that eventually causes relapse. Looking towards an optimal outcome, the accurate evaluation of MRD in patients with NB (NB-MRD) is essential to monitor the treatment response and disease burden. Over the past decades, the quantification of NB-associated messenger RNA (NB-mRNA) by reverse transcriptase-polymerase chain reaction has become widely used to detect NB-MRD, owing to the lack of recurrent genomic aberrations in NB cells. To achieve a more accurate and sensitive detection, the current NB-MRD assays quantify a set of NB-mRNAs to detect NB cells in bone marrow, peripheral blood, and peripheral blood stem cell samples. Among a growing number of NB-MRD assays, several assays quantitating different but overlapping sets of NB-mRNAs are reported to have a significant prognostic value. However, the clinical significance of NB-MRD remains to be established. In this review, we summarize the recent progress in NB-MRD and evaluate its clinical value.
神经母细胞瘤(NB)是一种儿童颅外实体瘤,约占所有儿童癌症死亡病例的15%。新诊断为NB的患者中,超过50%被归类为高危组,其长期生存率约为50%。尽管大多数高危NB患者可实现缓解,但超过一半的患者可能存在微小残留病(MRD),最终导致疾病复发。为了实现最佳治疗效果,准确评估NB患者的MRD(NB-MRD)对于监测治疗反应和疾病负担至关重要。在过去几十年中,由于NB细胞中缺乏复发性基因组畸变,通过逆转录聚合酶链反应对NB相关信使RNA(NB-mRNA)进行定量已被广泛用于检测NB-MRD。为了实现更准确和灵敏的检测,目前的NB-MRD检测方法对一组NB-mRNA进行定量,以检测骨髓、外周血和外周血干细胞样本中的NB细胞。在越来越多的NB-MRD检测方法中,有几种检测不同但有重叠的NB-mRNA集合的方法据报道具有重要的预后价值。然而,NB-MRD的临床意义仍有待确定。在本综述中,我们总结了NB-MRD的最新进展并评估了其临床价值。