Parcesepe Pietro, Coppola Luigi, Remo Andrea, D'Andrea Mario Rosario, Coppola Giulia, Simbolo Michele, Manfrin Erminia, Scarpa Aldo, De Santis Elena, Giordano Guido
Section of Pathology, Department of Diagnostics and Public Health, University and Hospital Trust of Verona, Verona, Italy.
Unità Operativa Complessa (UOC) Anatomia ed Istologia Patologica e Citologia Diagnostica, Dipartimento dei Servizi Diagnostici e della Farmaceutica, Ospedale Sandro Pertini, Roma, Italy.
Front Oncol. 2021 Apr 12;11:663489. doi: 10.3389/fonc.2021.663489. eCollection 2021.
Malignant Brenner Tumor (mBT) is extremely rare. Although BT are almost exclusive ovarian neoplasms, they may constitute a highly unusual tumor of the testis; in fact, only seven fully documented cases have been reported to date. Because of their rarity, the pathogenesis of these tumors has not been clarified and there is no standard therapeutic approach. We report the first case of epididymal mBT with synchronous, multiple, liver metastases and a very dramatic clinical course. Both primary tumor and metastasis were subjected to mutational analysis of 20 cancer associated genes. Primary tumor showed Tyr375Cys and His1047Arg missense mutations. Both mutations are reported as pathogenic in ClinVar database. The same mutation was present in liver metastasis. Based on these results we believe that the FGFR pathway could be an ideal candidate for personalized treatment, offering hope to a subset of patients with mBT. Personalized approach, including mutational analysis and molecular testing should be required in patients with rare tumors in order to clarify diagnosis and improve therapeutic strategies.
恶性勃勒纳瘤(mBT)极为罕见。尽管勃勒纳瘤几乎仅发生于卵巢,但也可能是一种极为罕见的睾丸肿瘤;事实上,迄今为止仅报道过7例有完整记录的病例。由于其罕见性,这些肿瘤的发病机制尚未阐明,也没有标准的治疗方法。我们报告了首例伴有同步、多发肝转移且临床病程极为凶险的附睾mBT病例。对原发肿瘤和转移瘤均进行了20个癌症相关基因的突变分析。原发肿瘤显示有Tyr375Cys和His1047Arg错义突变。这两种突变在ClinVar数据库中均被报告为致病性突变。肝转移瘤中也存在相同的突变。基于这些结果,我们认为FGFR通路可能是个性化治疗的理想靶点,为一部分mBT患者带来了希望。对于罕见肿瘤患者,应采用包括突变分析和分子检测在内的个性化方法,以明确诊断并改进治疗策略。