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WNT亚组髓母细胞瘤的临床放射学结果

Clinico-Radiological Outcomes in WNT-Subgroup Medulloblastoma.

作者信息

Mani Shakthivel, Chatterjee Abhishek, Dasgupta Archya, Shirsat Neelam, Pawar Akash, Epari Sridhar, Sahay Ayushi, Sahu Arpita, Moiyadi Aliasgar, Prasad Maya, Chinnaswamy Girish, Gupta Tejpal

机构信息

Department of Radiation Oncology, ACTREC/TMH, Tata Memorial Centre, Homi Bhabha National Institute, Kharghar, Navi Mumbai 410210, India.

Neuro-Oncology Laboratory, ACTREC/TMH, Tata Memorial Centre, Homi Bhabha National Institute, Kharghar, Navi Mumbai 410210, India.

出版信息

Diagnostics (Basel). 2024 Feb 7;14(4):358. doi: 10.3390/diagnostics14040358.

Abstract

Medulloblastoma (MB) comprises four broad molecular subgroups, namely wingless (WNT), sonic hedgehog (SHH), Group 3, and Group 4, respectively, with subgroup-specific developmental origins, unique genetic profiles, distinct clinico-demographic characteristics, and diverse clinical outcomes. This is a retrospective audit of clinical outcomes in molecularly confirmed WNT-MB patients treated with maximal safe resection followed by postoperative standard-of-care risk-stratified adjuvant radio(chemo)therapy at a tertiary-care comprehensive cancer centre. Of the 74 WNT-MB patients registered in a neuro-oncology unit between 2004 to 2020, 7 patients accrued on a prospective clinical trial of treatment deintensification were excluded, leaving 67 patients that constitute the present study cohort. The median age at presentation was 12 years, with a male preponderance (2:1). The survival analysis was restricted to 61 patients and excluded 6 patients (1 postoperative mortality plus 5 without adequate details of treatment or outcomes). At a median follow-up of 72 months, Kaplan-Meier estimates of 5-year progression-free survival and overall survival were 87.7% and 91.2%, respectively. Traditional high-risk features, large residual tumour (≥1.5 cm), and leptomeningeal metastases (M+) did not significantly impact upon survival in this molecularly characterized WNT-MB cohort treated with risk-stratified contemporary multimodality therapy. The lack of a prognostic impact of conventional high-risk features suggests the need for refined risk stratification and potential deintensification of therapy.

摘要

髓母细胞瘤(MB)分为四个主要分子亚组,分别为无翅型(WNT)、音猬因子(SHH)、3组和4组,各亚组具有特定的发育起源、独特的基因谱、不同的临床人口统计学特征及多样的临床结局。这是一项在三级综合癌症中心进行的回顾性研究,旨在评估分子确诊的WNT-MB患者接受最大安全切除术后,再进行术后标准风险分层辅助放(化)疗的临床结局。在2004年至2020年间,神经肿瘤病房登记的74例WNT-MB患者中,7例参加了治疗强度降低的前瞻性临床试验,被排除在外,剩余67例患者构成了本研究队列。患者就诊时的中位年龄为12岁,男性居多(比例为2:1)。生存分析仅限于61例患者,排除了6例患者(1例术后死亡加5例治疗或结局细节不充分者)。中位随访72个月时,Kaplan-Meier法估计的5年无进展生存率和总生存率分别为87.7%和91.2%。在接受风险分层的现代多模式治疗的这一分子特征明确的WNT-MB队列中,传统的高风险特征,即大的残留肿瘤(≥1.5 cm)和软脑膜转移(M+)对生存没有显著影响。传统高风险特征缺乏预后影响表明需要进行更精细的风险分层和可能的治疗强度降低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae13/10888131/6e748fa80a4a/diagnostics-14-00358-g001.jpg

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