1例患者体内的两种肿瘤：治疗靶点应是什么？伴有体细胞恶性转化的儿童生殖细胞肿瘤

Two Tumors in 1: What Should be the Therapeutic Target? Pediatric Germ Cell Tumor With Somatic Malignant Transformation.

作者信息

Faure Conter Cecile, Fresneau Brice, Thebaud Estelle, Bertrand Amandine, Dijoud Frederique, Rome Angelique, Dumesnil Cecile, Castex Marie Pierre, Ghanem Anguella, Orbach Daniel

机构信息

*Institute of Pediatric Hematology and Oncology §Department of Pathology, Women and Children's Hospital, Lyon †Department of Child and Adolescent Cancer, Gustave Roussy Cancer Institute, Villejuif ‡Department of Pediatric Oncology, University Hospital Center of Nantes, Nantes ∥Department of Pediatric Oncology of Timone Children's Hospital, Marseille ¶Department of Pediatric Oncology, University Hospital Center of Rouen, Rouen #Department of Pediatric Oncology, Children's Hospital, Toulouse ††Department of Pediatric, Adolescents, Young Adults, Institut Curie, Paris, France **Department of Pediatric Hematology and Oncology, Lebanese Hospital, University Medical Center, Beirut, Lebanon.

出版信息

J Pediatr Hematol Oncol. 2017 Jul;39(5):388-394. doi: 10.1097/MPH.0000000000000823.

DOI:10.1097/MPH.0000000000000823

PMID:28375941

Abstract

BACKGROUND

Germ cell tumors with somatic malignant transformation (GCT with SMT) are rare in children and poorly described. Data are missing to determine if therapies should target the GCT, the SMT compound, or both simultaneously.

PATIENTS AND METHODS

A retrospective national study was conducted in the Société Française des cancers de l'Enfant (SFCE) Centers. Medical records from patients aged 0 to 18 years diagnosed with GCT with SMT between 2000 and 2015 were analyzed. Any stages and primary sites were considered as well as synchronous and metachronous cases.

RESULTS

Fifteen patients were identified. Thirteen patients had synchronous GCT with SMT. In the latter cases, primaries were ovary (5), mediastinum (3), pineal gland (3), sacrococcyx (1), and parametrium (1). SMT histologies were central primitive neuroectodermal tumor (5), embryonal rhabdomyosarcomas (3) or thyroid papillary adenocarcinoma, leukemia, poorly differentiated carcinoma, mixed sarcomas, and miscellaneous histology (1 case each). Chemotherapy was targeted against the GCT (3), the SMT (6), or both components (3). The last patient received surgery exclusively. Partial or complete response to chemotherapy was observed in 5/10 assessable cases: 2/3 patients treated with GCT-dedicated chemotherapy, 3/6 patients treated with SMT-dedicated therapy, and 0/1 treated with combined therapy. In addition, 2 patients with mediastinal GCT primary had metachronous SMT, with acute myeloid leukemia and thyroid papillary adenocarcinoma, 8 months and 8 years, respectively, after the diagnoses of GCT. Two patients (1 synchronous and 1 metachronous) were cured with surgery exclusively. At the end of follow-up, 6 patients died of their disease including all 4 with postsurgical macroscopic residue.

CONCLUSIONS

GCT with SMT constitutes a very rare entity in children and adolescents. Surgical removal of the tumor is the cornerstone of the treatment and might be sufficient in selected cases. In the remaining cases, the best management is still unknown and should take into account both components and their respective chemosensitivity. Long-term surveillance is advised for patient with unresected teratoma as late transformation can occur.

摘要

背景

伴有体细胞恶性转化的生殖细胞肿瘤（GCT伴SMT）在儿童中罕见，且描述甚少。目前尚缺乏数据来确定治疗应针对GCT、SMT复合物还是两者同时进行。

患者与方法

在法国儿童癌症协会（SFCE）各中心进行了一项全国性回顾性研究。分析了2000年至2015年间诊断为GCT伴SMT的0至18岁患者的病历。考虑了所有分期和原发部位以及同时性和异时性病例。

结果

共确定15例患者。13例患者为同时性GCT伴SMT。在后一种情况下，原发部位为卵巢（5例）、纵隔（3例）、松果体（3例）、骶尾部（1例）和子宫旁组织（1例）。SMT的组织学类型为中枢原始神经外胚层肿瘤（5例）、胚胎性横纹肌肉瘤（3例）或甲状腺乳头状腺癌、白血病、低分化癌、混合性肉瘤以及其他组织学类型（各1例）。化疗针对GCT（3例）、SMT（6例）或两者（3例）。最后1例患者仅接受了手术。在10例可评估病例中，5例观察到对化疗有部分或完全反应：3例接受GCT专用化疗的患者中有2例，6例接受SMT专用治疗的患者中有3例，1例接受联合治疗的患者无反应。此外，2例纵隔GCT原发患者发生了异时性SMT，分别在GCT诊断后8个月和8年出现急性髓系白血病和甲状腺乳头状腺癌。2例患者（1例同时性和1例异时性）仅通过手术治愈。随访结束时，6例患者死于疾病，包括所有4例术后有肉眼可见残留的患者。