Sun Mengjiao, Chen Ji, Xue Yao, Deng Yongji, Van Mater David, Hiemcke-Jiwa Laura S, Wu Peng, Fang Yongjun
Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Department of General Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China.
Transl Pediatr. 2024 Jun 30;13(6):976-986. doi: 10.21037/tp-24-126. Epub 2024 Jun 27.
Congenital mesoblastic nephroma (CMN) is a rare renal tumor with good prognosis in children; however, cellular CMN is a special subtype with poor prognosis. The fusion gene has been found in some cellular CMNs, whereas CMNs with fusion gene have not been reported. This study aims to share the progression and treatment of a case of CMNs with fusion gene, in order to provide experience for the diagnosis and treatment of such specific diseases.
We report a case of CMN with fusion gene and a 3-year course of disease that originated during the fetal period. The child experienced rapid tumor progression 22 months after birth, followed by tumor recurrence 3 months after complete resection of CMN. Although traditional chemotherapy could not prevent the tumor progression. The tropomyosin receptor kinase (TRK) inhibitor larotrectinib resulted in significant inhibitory effects on metastatic lesions in the lungs, liver, and peritoneum. However, the patient ultimately died as the tumor became resistant to larotrectinib.
CMN, is a rare pediatric renal tumor that warrant prompt surgical management. A watchful waiting approach may allow for aggressive growth of metastatic disease, as seen in this case of cellular CMN with fusion gene, TRK inhibitors can play significant roles in the treatment of CMN with fusion gene, but we still need to pay attention to the phenomenon of drug resistance to larotrectinib caused by site mutations of TRKA.
先天性中胚层肾瘤（CMN）是一种儿童期预后良好的罕见肾肿瘤；然而，细胞型CMN是一种预后较差的特殊亚型。在一些细胞型CMN中发现了融合基因，而具有融合基因的CMN尚未见报道。本研究旨在分享1例具有融合基因的CMN的病情进展及治疗情况，为这类特殊疾病的诊治提供经验。
我们报告1例具有融合基因的CMN病例，病程3年，起源于胎儿期。患儿出生后22个月肿瘤进展迅速，CMN完全切除后3个月肿瘤复发。尽管传统化疗无法阻止肿瘤进展。原肌球蛋白受体激酶（TRK）抑制剂拉罗替尼对肺、肝和腹膜的转移病灶产生了显著的抑制作用。然而，患者最终因肿瘤对拉罗替尼耐药而死亡。
CMN是一种罕见的儿童肾肿瘤，需要及时进行手术治疗。观察等待的方法可能会使转移性疾病出现侵袭性生长，如本例具有融合基因的细胞型CMN所见，TRK抑制剂在具有融合基因的CMN治疗中可发挥重要作用，但我们仍需关注TRKA位点突变导致对拉罗替尼耐药的现象。
