Department of Urology, Medical Academy, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.
Department of Oncology and Hematology, Medical Academy, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.
Medicina (Kaunas). 2024 Sep 23;60(9):1553. doi: 10.3390/medicina60091553.
: Seminoma is the most common solid malignant tumour in young men. Clear-cell kidney carcinoma is the most common malignancy of the genitourinary tract. However, the synchronous occurrence of both of these tumours is rare. We present the case of a 36-year-old patient who presented to a medical facility at the end of 2019 with an enlarged right testicle. A unilateral orchofuniculectomy was performed, and a mass measuring 30 cm was removed. During histological examination, testicular seminoma pT2, R0, was diagnosed. An abdominal computed tomography (CT) scan showed a 6.4 cm × 6.8 cm × 6.7 cm tumour in the right kidney and a metastatic-like lesion in the right adrenal gland. A right nephrectomy and an adrenalectomy and paraaortic and paracaval lymphadenectomies were performed. A histological evaluation confirmed the presence of clear-cell renal carcinoma pT2aR0 G2, adrenal hyperplasia, and seminoma metastases in the removed lymph node. Chemotherapy with a Bleomycin, Etoposide, and Cisplatin (BEP) regimen was carried out. Three years after the last cycle of chemotherapy, a follow-up CT scan showed metastases in the left kidney, the right ischium, and the right lung. A well-differentiated clear-cell carcinoma G1 of the left kidney and metastasis of clear-cell carcinoma G2 in the right ischium were confirmed after the biopsy, and no tumour lesions were found in the lung tissue specimen. Treatment with targeted therapy with Sunitinib was started because the risk was favourable according to the Heng criteria. Genetic testing was performed, and the following genes were analysed: , , , , , , , and The testing did not reveal any pathogenic or potentially pathogenic mutations or sequence changes of unknown clinical significance in the genes analysed. : According to the authors, the occurrence of synchronous primary tumours is linked to one's genetic predisposition. DNA sequencing of tumour tissue could provide more information on the corresponding aetiopathogenesis.
精原细胞瘤是年轻男性中最常见的实体恶性肿瘤。透明细胞肾细胞癌是泌尿生殖道最常见的恶性肿瘤。然而,同时发生这两种肿瘤的情况较为罕见。我们报告了一例 36 岁患者,他于 2019 年底因右侧睾丸增大到医疗机构就诊。进行了单侧睾丸切除术,切除了一个 30cm 的肿块。在组织学检查中,诊断为睾丸精原细胞瘤 pT2、R0。腹部计算机断层扫描 (CT) 显示右肾有一个 6.4cm×6.8cm×6.7cm 的肿瘤和右肾上腺转移样病变。进行了右肾切除术、肾上腺切除术以及腹主动脉旁和腔静脉旁淋巴结切除术。组织学评估证实切除的淋巴结中存在透明细胞肾细胞癌 pT2aR0 G2、肾上腺增生和精原细胞瘤转移。采用博来霉素、依托泊苷和顺铂 (BEP) 方案进行化疗。在最后一次化疗周期 3 年后,随访 CT 扫描显示左肾、右坐骨和右肺有转移。在活检后证实左肾为分化良好的透明细胞癌 G1 和右坐骨透明细胞癌 G2 转移,肺部组织标本未发现肿瘤病变。根据 Heng 标准,由于风险有利,开始使用舒尼替尼进行靶向治疗。进行了基因检测,分析了以下基因: 、 、 、 、 、 、和 。检测未发现分析基因中存在致病或潜在致病突变或临床意义不明的序列变化。作者认为,同时发生的原发性肿瘤与遗传易感性有关。肿瘤组织的 DNA 测序可以提供更多关于相应发病机制的信息。