先天性梭形细胞横纹肌肉瘤：国际合作分析。
Congenital spindle cell rhabdomyosarcoma: An international cooperative analysis.
机构信息
Texas Children's Cancer and Hematology Centers, Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Network Aging Research, Heidelberg University, Heidelberg, Germany.
出版信息
Eur J Cancer. 2022 Jun;168:56-64. doi: 10.1016/j.ejca.2022.03.022. Epub 2022 Apr 19.
BACKGROUND
Spindle cell rhabdomyosarcoma (RMS) is a rare variant of RMS accounting for up to 10% of cases in infants. In older children and adults, spindle cell RMS is associated with MYOD1 mutations and a poor prognosis. In infants, it is associated with recurring fusions involving NCOA2 and VGLL2. Reports in the literature suggest a favorable prognosis for this subset, however, little is known about treatment and outcome data of infants with spindle cell RMS.
METHODS
Characteristics, treatment, and outcome of an international cohort of 40 patients aged ≤ 12 months with spindle cell RMS treated from 1997 to 2018 were evaluated.
RESULTS
Localized disease (LD) was diagnosed in 39 patients. The median age at diagnosis was 2.5 months (range 0-12 months). Expert pathologic review confirmed the diagnosis of spindle cell RMS in all patients. Among 26 tumors that had molecular evaluation, 13 had rearrangements of NCOA and/or VGLL. Multimodal treatment of infants with LD included conventional (age adjusted) chemotherapy (n = 37), resection (n = 31) and radiotherapy (RT) (n = 5, brachytherapy in 3). Complete remission was achieved in 37/39 patients. Progressive disease occurred in two infants, relapsed disease in three. Microscopically complete surgical resection was associated with five-year event-free survival (EFS) and overall survival (OS) of 100%. Two patients with tumors ≤ 5 cm were treated with microscopically complete resection only and were alive 1 and 4.2 years after diagnosis. The 5-year EFS and OS for infants with LD were 86% (±11; CI 95%) and 91% (±9; CI 95%), respectively. One patient had metastatic disease (NCOA fusion positive) with primary tumor in head and neck and brain metastases. This patient died despite chemotherapy and delayed resection of the primary tumor due to respiratory failure secondary to cytomegalovirus infection 1.2 years after diagnosis.
CONCLUSION
Infants with spindle cell RMS have an excellent prognosis. Multimodal treatment including microscopically complete resection of the tumor is strongly recommended.
背景
梭形细胞横纹肌肉瘤（RMS）是 RMS 的一种罕见变异，占婴儿病例的 10%。在较大的儿童和成人中，梭形细胞 RMS 与 MYOD1 突变和不良预后相关。在婴儿中，它与涉及 NCOA2 和 VGLL2 的复发性融合有关。文献中的报告表明该亚组具有良好的预后，但对于梭形细胞 RMS 婴儿的治疗和结果数据知之甚少。
方法
评估了 1997 年至 2018 年期间国际 40 名年龄≤12 个月的梭形细胞 RMS 患儿的特征、治疗和结局。
结果
39 例患者诊断为局限性疾病（LD）。中位诊断年龄为 2.5 个月（范围 0-12 个月）。所有患者均经专家病理复查证实为梭形细胞 RMS 诊断。在 26 例具有分子评估的肿瘤中，有 13 例 NCOA 和/或 VGLL 发生重排。LD 婴儿的多模式治疗包括常规（年龄调整）化疗（n=37）、切除术（n=31）和放疗（RT）（n=5，其中 3 例为近距离放疗）。39 例患者中 37 例达到完全缓解。2 例患儿发生疾病进展，3 例患儿疾病复发。显微镜下完全切除与 5 年无事件生存率（EFS）和总生存率（OS）为 100%相关。2 例肿瘤直径≤5cm 的患儿仅接受显微镜下完全切除，诊断后 1 年和 4.2 年仍存活。LD 婴儿的 5 年 EFS 和 OS 分别为 86%（±11；95%CI）和 91%（±9；95%CI）。1 例患者存在转移疾病（NCOA 融合阳性），原发肿瘤位于头颈部和脑转移。该患者诊断后 1.2 年因巨细胞病毒感染继发呼吸衰竭，化疗和延迟切除原发肿瘤后死亡。
结论
梭形细胞 RMS 婴儿预后良好。强烈建议采用包括肿瘤显微镜下完全切除在内的多模式治疗。
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