Electronic Journal of Liver Tumor ›› 2020, Vol. 7 ›› Issue (1): 39-44.

• Original article • Previous Articles     Next Articles

Comparison of gene mutational status between primary colorectal carcinoma and paired synchronous/metachronous liver metastasis by next-generation

Li Weihua, Li Yan, Guo Lei, Ying Jianming   

  1. Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China
  • Received:2020-01-21 Online:2020-03-30 Published:2020-07-17

Abstract: Purpose: To compare the gene mutational status between primary colorectal carcinoma (CRC) and paired synchronous/metachronous liver metastasis. Methods: KRAS, NRAS, BRAF and PIK3CA mutations were analyzed in 29 patients with primary and paired synchronous liver metastatic CRC, and in 26 patients with primary and paired metachronous liver metastatic CRC using next-generation sequencing (NGS). Results: Same mutation profiles of KRAS, NRAS, BRAF or PIK3CA between primary and paired synchronous liver metastatic CRCs were observed in 27 of 29 patients (93.1%). Of 2 patients with discordant mutational status, a KRAS mutation was detected in the primary tumor and one of liver metastatic tumors in a patient, but no mutation was observed in the other liver metastatic lesion. A PIK3CA mutation was observed in primary tumor but not the metastatic tumor in the other patient. Moreover, same mutation profiles between primary and paired metachronous liver metastatic CRCs were observed in 21 of 26 patients (80.8%), which was significantly lower than those in paired primary and synchronous liver metastatic CRCs (P =0.010). Of 5 patients with discordant mutational status, KRAS, NRAS, or PIK3CA mutations were observed in the metastatic tumors but not the primary tumors in 4 patients, whereas a KRAS mutation was detected in the primary tumor but not the metastatic tumor in 1 patient. Conclusions: The gene mutational discrepancies are more frequently observed in paired primary/metachronous liver metastatic CRCs than paired primary/synchronous liver metastatic CRCs.

Key words: Colorectal carcinoma, Synchronous liver metastasis, Metachronous liver metastasis, Next-generation sequencing, Gene mutation