Marandino Laura, Vogl Ursula Maria
Service of medical oncology, Oncology Institute of Southern Switzerland, EOC, Bellinzona, Switzerland.
Mediastinum. 2022 Mar 25;6:7. doi: 10.21037/med-21-33. eCollection 2022.
In this review, we summarize the current state of the art of primary mediastinal germ cell tumours (PMGCTs) and we highlight challenges and future research directions for this disease.
PMGCTs account for 1-3% of all germ cell malignancies and for 15% of adult anterior mediastinal cancers. In 60-70% of cases PMGCTs are represented by nonseminomatous germ cell tumours (GCTs), and in 30-40% of cases by seminomas. Even if PMGCTs share histological and biochemical characteristics with gonadal GCTs, they have peculiar clinical and biological features. Nonseminomatous PMGCTs have a poor prognosis, with a 5-year overall survival (OS) rate of 40-50% after platinum-based chemotherapy and surgery, and a long-term OS of only 10% after salvage treatment. Due to the rarity of this disease, no level 1 evidence is available from randomised trials for PMGCTs. The combination of bleomycin, etoposide, and cisplatin (BEP) or etoposide, ifosfamide and cisplatin (VIP) for 4 cycles are recommended as first line treatment options for nonseminomatous PMGCTs. Surgery of the residual disease after chemotherapy is fundamental in the treatment of nonseminomatous PMGCTs. PMGCTs have high TP53 pathway gene alterations, while targetable gene alterations are rarely identified, thus challenging the advance of precision medicine in this field.
We performed a narrative review of international literature published in English on PMGCTs, focusing the attention on clinical trials, international guidelines and translational studies.
Treatment of patients with PMGCTs is challenging and should be performed in experienced centers. International collaborations should become a priority to ensure optimal patient management. Clinical investigation of new therapeutic options remains an important unmet clinical need, and inclusion of patients in clinical trials should be encouraged. Liquid biopsy is a new promising strategy in PMGCTs.
在本综述中，我们总结了原发性纵隔生殖细胞肿瘤（PMGCTs）的当前技术水平，并强调了该疾病面临的挑战和未来的研究方向。
PMGCTs占所有生殖细胞恶性肿瘤的1%-3%，占成人前纵隔癌的15%。在60%-70%的病例中，PMGCTs由非精原细胞性生殖细胞肿瘤（GCTs）构成，在30%-40%的病例中由精原细胞瘤构成。即使PMGCTs与性腺GCTs具有共同的组织学和生化特征，但它们具有独特的临床和生物学特性。非精原细胞性PMGCTs预后较差，铂类化疗和手术后5年总生存率（OS）为40%-50%，挽救治疗后长期OS仅为10%。由于该疾病罕见，尚无来自随机试验的一级证据用于PMGCTs。推荐使用博来霉素、依托泊苷和顺铂（BEP）或依托泊苷、异环磷酰胺和顺铂（VIP）联合方案进行4个周期的治疗，作为非精原细胞性PMGCTs的一线治疗选择。化疗后残留病灶的手术治疗是非精原细胞性PMGCTs治疗的基础。PMGCTs具有较高的TP53通路基因改变，而可靶向的基因改变很少被发现，因此在该领域对精准医学的发展构成挑战。
我们对以英文发表的关于PMGCTs的国际文献进行了叙述性综述，重点关注临床试验、国际指南和转化研究。
PMGCTs患者的治疗具有挑战性，应在经验丰富的中心进行。国际合作应成为确保患者最佳管理的优先事项。新治疗方案的临床研究仍然是一项重要的未满足的临床需求，应鼓励患者参与临床试验。液体活检是PMGCTs中一种新的有前景的策略。
