PDF(Pubmed)
Abstract：
Thyroid-like follicular renal cell carcinoma (TLFRCC), also known as thyroid-like follicular carcinoma of the kidney or thyroid follicular carcinoma like renal tumor, is an exceedingly rare variant of renal cell carcinoma that has only recently been acknowledged. This neoplasm exhibits a distinct follicular morphology resembling that of the thyroid gland. Immunohistochemical analysis reveals positive expression of PAX8, Vimentin, and EMA, while thyroid-specific markers TG and TTF1 are consistently absent. Furthermore, there is a notable absence of any concurrent thyroid pathology on clinical evaluation. Previous reports have suggested that TLFRCC is an indolent, slow-growing malignancy with infrequent metastatic potential. In this report, we present a case of TLFRCC characterized by remarkable ossification and widespread metastasis, including multifocal pulmonary lesions, involvement of the abdominal wall, and infiltration into the psoas muscle. To our knowledge, this represents only the third documented instance of distant metastasis in thyroid follicular renal carcinoma. The current case demonstrates a therapeutic approach that combines radiotherapy with the utilization of toripalimab, a programmed cell death 1 (PD-1) receptor inhibitor, and pazopanib. This treatment regimen was tailored based on comprehensive genomic profiling, which identified mutations in the POLE (catalytic subunit of DNA polymerase epsilon) and ATM (ataxia-telangiectasia mutated) genes, both of which have been implicated in the pathogenesis of various malignant tumors. These findings represent a novel discovery, as such mutations have never been reported in association with TLFRCC. Thus far, this therapeutic approach has proven to be the most efficacious option for treating metastatic TLFRCC among previously reported, and it also marks the first mention of the potential benefits of radiotherapy in managing this particular subtype of renal cell carcinoma.
摘要：
甲状腺样滤泡性肾细胞癌(TLFRCC),也称为甲状腺样滤泡状癌或甲状腺滤泡状癌，是一种非常罕见的肾细胞癌变体，最近才被承认。这种肿瘤表现出与甲状腺相似的独特滤泡形态。免疫组织化学分析显示PAX8，波形蛋白，和EMA,而甲状腺特异性标志物TG和TTF1始终不存在。此外，在临床评估中,明显没有并发甲状腺病理.以前的报道表明，TLFRCC是一种惰性物质，生长缓慢的恶性肿瘤，具有罕见的转移潜力。在这份报告中,我们介绍了一个以显著骨化和广泛转移为特征的TLFRCC病例，包括多灶性肺部病变，腹壁受累，渗入腰大肌.据我们所知,这只是甲状腺滤泡性肾癌远处转移的第三例。目前的病例证明了一种将放疗与托里帕利马结合的治疗方法，程序性细胞死亡1（PD-1）受体抑制剂，还有帕唑帕尼.这种治疗方案是根据全面的基因组图谱定制的，鉴定了POLE（DNA聚合酶epsilon的催化亚基）和ATM（共济失调-毛细血管扩张症突变）基因的突变，两者都与各种恶性肿瘤的发病机理有关。这些发现代表了一个新的发现，这样的突变从未报道过与TLFRCC相关。到目前为止,这种治疗方法已被证明是治疗转移性TLFRCC最有效的选择，这也标志着首次提到放射治疗在治疗这种特殊亚型肾细胞癌方面的潜在益处。
