婴儿肌纤维瘤病：预后良好，但也是罕见的致命性进展性疾病。五项软组织肉瘤协作研究组（CWS）试验及一项登记研究的治疗结果
Infantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.
作者信息
Sparber-Sauer Monika, Vokuhl Christian, Seitz Guido, Sorg Benjamin, Tobias Möllers, von Kalle Thekla, Münter Marc, Bielack Stefan S, Ladenstein Ruth, Ljungman Gustaf, Niggli Felix, Frühwald Michael, Loff Stefan, Klingebiel Thomas, Koscielniak Ewa
机构信息
Pädiatrie 5 (Pädiatrische Onkologie, Hämatologie, Immunologie), Klinikum der Landeshauptstadt Stuttgart gKAöR, Olgahospital, Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Stuttgart, Germany.
University of Medicine Tübingen, Tuebingen, Germany.
出版信息
Pediatr Blood Cancer. 2022 Mar;69(3):e29403. doi: 10.1002/pbc.29403. Epub 2021 Oct 11.
BACKGROUND
Infantile myofibromatosis (IM) is a rare benign soft tissue tumor and often a self-limiting disease but rarely includes life-threatening complications. Little is known about optimal treatment of primary localized (LD) and multifocal disease (MFD).
METHODS
Treatment and outcome of 95 children with IM registered within five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry (1981-2016) were evaluated.
RESULTS
LD was diagnosed in 71 patients at a median age of 0.4 years (range 0.0-17.7). MFD was present in 24 patients. The mainstay of treatment was watch-and-wait strategy (w&w) after initial biopsy or resection. Low-dose chemotherapy (CHT) was administered to 16/71 (23%) patients with LD and eight of 24 (33%) patients with MFD, imatinib was added in two. A delayed resection was possible in eight of 71 (11%) and five of 24 (21%) patients with LD and MFD, respectively. Overall, patients were alive in complete remission (n = 77) and partial remission (n = 10) at a median follow-up time of 3.4 years after diagnosis (range 0.01-19.4); no data available (n = 5). Three patients died of progressive disease (PD) despite CHT. Gender, tumor size, and location correlated with a favorable event-free survival (EFS) in patients with LD. The 5-year EFS and overall survival of patients with LD were 73% (±12, confidence interval [CI] 95%) and 95% (±6, CI 95%), respectively; for MFD 51% (±22, CI 95%) and 95% (±10, CI 95%).
CONCLUSION
Prognosis is excellent in patients with LD and MFD. Targeted treatment needs to be evaluated for rare fatal PD.
背景
婴儿肌纤维瘤病（IM）是一种罕见的良性软组织肿瘤，通常为自限性疾病，但很少会出现危及生命的并发症。对于原发性局限性（LD）和多灶性疾病（MFD）的最佳治疗方法知之甚少。
方法
评估了在五项合作性软组织肉瘤研究组（CWS）试验和一个登记处（1981 - 2016年）登记的95例IM患儿的治疗情况和结局。
结果
71例患者被诊断为LD，中位年龄为0.4岁（范围0.0 - 17.7岁）。24例患者存在MFD。治疗的主要策略是在初次活检或切除后采用观察等待策略（w&w）。71例LD患者中有16例（23%）、24例MFD患者中有8例（33%）接受了低剂量化疗（CHT），其中2例加用了伊马替尼。71例LD患者中有8例（11%）、24例MFD患者中有5例（21%）分别进行了延迟切除。总体而言，在诊断后的中位随访时间3.4年（范围0.01 - 19.4年）时，患者处于完全缓解（n = 77）和部分缓解（n = 10）状态存活；5例无可用数据。3例患者尽管接受了CHT仍死于疾病进展（PD）。性别、肿瘤大小和位置与LD患者良好的无事件生存期（EFS）相关。LD患者的5年EFS和总生存率分别为73%（±12，95%置信区间[CI]）和95%（±6，CI 95%）；MFD患者分别为51%（±22，CI 95%）和95%（±10，CI 95%）。
结论
LD和MFD患者的预后良好。对于罕见的致命性PD，需要评估靶向治疗。
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