Pantaleo Maria A, Mandruzzato Marcella, Indio Valentina, Urbini Milena, Nannini Margherita, Gatto Lidia, Schipani Angela, Fiorentino Michelangelo, Franceschini Tania, Ambrosini Valentina, Di Scioscio Valerio, Saponara Maristella, Ianni Manuela, Concetti Sergio, Altimari Annalisa, Ardizzoni Andrea, Astolfi Annalisa
Division of Oncology, IRCSS Azienda Ospedaliero Universitaria di Bologna, Bologna, Italy.
"Giorgio Prodi Cancer Research Center" and Department of Experimental, Diagnostic and Specialized Medicine, University of Bologna, Bologna, Italy.
Front Oncol. 2021 Mar 16;11:633543. doi: 10.3389/fonc.2021.633543. eCollection 2021.
Somatic malignant transformation in a germ cell tumor (GCT) is the development of non-germ malignancies; much of available literature refers to teratoma with malignant transformation (TMT). There are various transformation histologies such as sarcoma, adenocarcinoma, primitive neuroectodermal tumors, and more rarely carcinoid tumors, hemangioendothelioma, lymphoma, or nephroblastoma. The treatments of these entities include surgery and/or chemotherapy. A standard approach in choosing chemotherapy in TMT cases has not yet been established. Many authors suggest using chemotherapeutic agents based on the transformed histology, while others recommend GCT-oriented therapy combined with surgery as the primary treatment, reserving histology-driven chemotherapies for metastatic relapse. We report the clinical findings and the genomic profile of a mixed GCT case with somatic-type malignancy of sarcoma type. We achieved a complete radiological response with GCT-oriented chemotherapy performed as salvage therapy after sarcoma-histology therapy. In addition, molecular profiles with RNA-sequencing and exome sequencing analyses of the primary tumor and the tumor with somatic-type malignancy of sarcoma type were explored.
生殖细胞肿瘤（GCT）中的体细胞恶性转化是指非生殖系恶性肿瘤的发生；现有文献大多提及伴有恶性转化的畸胎瘤（TMT）。存在多种转化组织学类型，如肉瘤、腺癌、原始神经外胚层肿瘤，较少见的有类癌肿瘤、血管内皮瘤、淋巴瘤或肾母细胞瘤。这些实体的治疗方法包括手术和/或化疗。在TMT病例中选择化疗的标准方法尚未确立。许多作者建议根据转化后的组织学类型使用化疗药物，而另一些人则推荐以GCT为导向的治疗联合手术作为主要治疗方法，将基于组织学的化疗留用于转移性复发情况。我们报告了一例具有肉瘤型体细胞恶性肿瘤的混合性GCT病例的临床发现和基因组概况。在肉瘤组织学治疗后，我们通过以GCT为导向的化疗作为挽救治疗实现了完全的影像学缓解。此外，还对原发性肿瘤以及具有肉瘤型体细胞恶性肿瘤的肿瘤进行了RNA测序和外显子组测序分析的分子谱研究。
