Bonvini Paolo, Rossi Elisabetta, Zin Angelica, Manicone Mariangela, Vidotto Riccardo, Facchinetti Antonella, Tombolan Lucia, Affinita Maria Carmen, Santoro Luisa, Zamarchi Rita, Bisogno Gianni
Institute of Pediatric Research, Fondazione Città della Speranza, Padova, Italy.
Department of Surgery, Oncology and Gastroenterology, Oncology Section, University of Padova, Padova, Italy.
Front Pediatr. 2021 Apr 29;9:652583. doi: 10.3389/fped.2021.652583. eCollection 2021.
Inflammatory myofibroblastic tumors (IMTs) are locally aggressive malignancies occurring at various sites. Surgery is the mainstay of treatment and prognosis is generally good. For children with unresectable or metastatic tumors, however, outcome is particularly severe, limited also by the lack of predictive biomarkers of therapy efficacy and disease progression. Blood represents a minimally invasive source of cancer biomarkers for real-time assessment of tumor growth, particularly when it involves the analysis of circulating tumor cells (CTC). As CTCs potentially represent disseminated disease, their detection in the blood correlates with the presence of metastatic lesions and may reflect tumor response to treatment. Herein, we present a case report of a 19-year-old boy with an ALK-positive IMT of the bladder, proximal osteolytic and multiple bilateral lung lesions, who received ALK inhibitor entrectinib postoperatively and underwent longitudinal CTC analysis during treatment. Antitumor activity of entrectinib was demonstrated and was accompanied by regression of lung lesions, elimination of CTCs from the blood and no development of relapses afterwards. Therapy continued without any clinical sign of progression and 24 months since the initiation of treatment the patient remains symptom-free and disease-free.
炎性肌纤维母细胞瘤（IMTs）是发生于不同部位的具有局部侵袭性的恶性肿瘤。手术是主要的治疗方法，总体预后良好。然而，对于患有不可切除或转移性肿瘤的儿童，预后特别严重，同时还受到缺乏治疗疗效和疾病进展预测生物标志物的限制。血液是癌症生物标志物的微创来源，可用于实时评估肿瘤生长，尤其是在涉及循环肿瘤细胞（CTC）分析时。由于CTC可能代表播散性疾病，它们在血液中的检测与转移灶的存在相关，并且可能反映肿瘤对治疗的反应。在此，我们报告一例19岁男孩，患有膀胱ALK阳性IMT，近端骨质溶解及双侧多发肺部病变，术后接受ALK抑制剂恩曲替尼治疗，并在治疗期间进行了纵向CTC分析。恩曲替尼显示出抗肿瘤活性，同时伴有肺部病变消退、血液中CTC消失且此后未出现复发。治疗持续进行，无任何疾病进展的临床迹象，自治疗开始24个月以来，患者仍无症状且无疾病。
