Wen Hsin-Yu, Hou Jing, Zeng Hao, Zhou Qiao, Chen Ni
Department of Pathology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
Department of Urology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China.
World J Clin Cases. 2022 Jul 6;10(19):6750-6758. doi: 10.12998/wjcc.v10.i19.6750.
Tumor-to-tumor metastasis (TTM) is an uncommon condition. Only a few cases of renal cell carcinoma (RCC) as donor tumor of TTM have been reported in literature, and none of these studies have described RCC metastasizing to synchronous pheochromocytoma (PCC).
The patient was a 54-year-old woman who presented with recurrent dull abdominal pain for six months, which was further aggravated for one more month. Enhanced computed tomography revealed a tumor mass in the right kidney and another mass in the left retroperitoneum/adrenal gland. Histopathology and immunochemistry of resected specimens confirmed the diagnosis of clear cell renal cell carcinoma (CCRCC) of the right kidney, and the left retroperitoneum revealed a typical PCC with CCRCC metastasis. Whole exome sequencing revealed the presence of a c.529A>T somatic mutation of the Von Hippel Lindau () gene in the metastasized CCRCC, which was also present in the primary right kidney CCRCC, as confirmed by Sanger sequencing. No mutation was detected in the PCC or in normal right kidney tissue. Fluorescence in situ hybridization revealed loss of chromosome 3p in both the primary right kidney CCRCC and CCRCC metastasized to PCC in the left kidney.
This is the first case showing metastasis of CCRCC to PCC, thus leading to tumor-to-tumor metastasis.
肿瘤-to-肿瘤转移（TTM）是一种罕见的情况。文献中仅报道了少数几例肾细胞癌（RCC）作为TTM供体肿瘤的病例，且这些研究均未描述RCC转移至同步嗜铬细胞瘤（PCC）的情况。
患者为一名54岁女性，出现反复钝性腹痛6个月，近1个月进一步加重。增强计算机断层扫描显示右肾有一个肿瘤肿块，左腹膜后/肾上腺有另一个肿块。切除标本的组织病理学和免疫化学检查证实右肾为透明细胞肾细胞癌（CCRCC），左腹膜后显示为典型的PCC伴CCRCC转移。全外显子测序显示转移的CCRCC中存在Von Hippel Lindau（）基因的c.529A>T体细胞突变，经Sanger测序证实该突变也存在于原发性右肾CCRCC中。在PCC或正常右肾组织中未检测到该突变。荧光原位杂交显示原发性右肾CCRCC和转移至左肾PCC的CCRCC中均存在3号染色体短臂缺失。
这是首例显示CCRCC转移至PCC从而导致肿瘤-to-肿瘤转移的病例。
