Fossey Mary, Li Haocheng, Afzal Samina, Carret Anne-Sophie, Eisenstat David D, Fleming Adam, Hukin Juliette, Hawkins Cynthia, Jabado Nada, Johnston Donna, Brown Tania, Larouche Valerie, Scheinemann Katrin, Strother Douglas, Wilson Beverly, Zelcer Shayna, Huang Annie, Bouffet Eric, Lafay-Cousin Lucie
Pediatric Hematology Oncology and Bone Marrow Transplantation, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.
Hematology Oncology, IWK Health Centre, 5850 University Avenue, P O Box 9700, Halifax, NS, B3K 6R8, Canada.
J Neurooncol. 2017 Mar;132(1):155-162. doi: 10.1007/s11060-016-2353-0. Epub 2017 Jan 19.
While 2/3 of patients with ATRT are less than 3 years at diagnosis, the literature suggests younger children present with more aggressive disease and poorer outcome. However, little data exist on characteristics and outcome of patients diagnosed with ATRT in the first year of life. In particular, it is unclear whether they access similar treatments as do older children. We compared the cohort of patients ≤12 months from the Canadian ATRT registry to all cases extracted from the literature reported between 1996 and 2014 to describe their clinical and treatment characteristics, and potential prognostic factors. Twenty-six (33.7%) patients from the Canadian registry were ≤12 months at diagnosis as were 120 cases identified in the literature. Post-operatively, 46% of the registry's patients underwent palliation as opposed to 10.8% in the literature cohort. Palliative patients were significantly younger than those who received active therapy (3.3 vs. 6.6 months). While the use of high-dose chemotherapy (HDC) was relatively similar in both cohorts (42.9 and 35.5% respectively), radiotherapy (RT) use was significantly lower in the Canadian cohort (14.3 vs 44.9%). Children ≤6 months, who received active therapy, had a worst outcome than older ones. Gross total resection, HDC and adjuvant RT were associated with better outcomes. Eighty percent of the tested patients had evidence of germline mutation of INI1. While 1/3 of ATRT occurs within the first year of life, a large proportion only received palliative therapy. Even when actively treated, children ≤6 months fare worse. Some selected patients benefit from HDC.
虽然三分之二的非典型畸胎样/横纹肌样瘤（ATRT）患者在诊断时年龄小于3岁，但文献表明年龄较小的儿童所患疾病更具侵袭性，预后更差。然而，关于出生后第一年被诊断为ATRT的患者的特征和预后的数据很少。特别是，尚不清楚他们是否能获得与年龄较大儿童相似的治疗。我们将加拿大ATRT登记处12个月及以下的患者队列与1996年至2014年期间文献报道的所有病例进行比较，以描述他们的临床和治疗特征以及潜在的预后因素。加拿大登记处26名（33.7%）患者诊断时年龄≤12个月，文献中确定的病例有120例。术后，登记处46%的患者接受了姑息治疗，而文献队列中的这一比例为10.8%。接受姑息治疗的患者明显比接受积极治疗的患者年龄小（3.3个月对6.6个月）。虽然两个队列中高剂量化疗（HDC）的使用相对相似（分别为42.9%和35.5%），但加拿大队列中放疗（RT）的使用明显较低（14.3%对44.9%）。接受积极治疗的6个月及以下儿童的预后比年龄较大的儿童更差。大体全切、HDC和辅助放疗与较好的预后相关。80%的受试患者有INI1种系突变的证据。虽然三分之一的ATRT发生在出生后第一年，但很大一部分患者仅接受了姑息治疗。即使接受积极治疗，6个月及以下的儿童预后也更差。一些选定的患者从HDC中获益。
