Published online Sep 15, 2020. doi: 10.4251/wjgo.v12.i9.1065
Peer-review started: April 22, 2020
First decision: April 26, 2020
Revised: July 16, 2020
Accepted: August 16, 2020
Article in press: August 16, 2020
Published online: September 15, 2020
Processing time: 140 Days and 22.7 Hours
Human epidermal growth factor receptor 2 (HER2) amplification is a molecular driver for a subset of colorectal cancers (CRCs) and one of the major causes of anti-epidermal growth factor receptor (EGFR) treatment failure. Compared to dual anti-HER2 treatments, which have been shown to be effective in HER2-positive metastatic CRC patients, single-agent anti-HER2 therapy is rarely used to treat CRC.
Herein, we report a case of RAS/BRAF-wild-type metastatic CRC that was identified as HER2-positive through circulating tumor DNA (ctDNA) testing by next-generation sequencing following the failure of two lines of therapy. Subsequently, the patient was given lapatinib monotherapy that led to a partial response with a progression-free survival of 7.9 mo. Moreover, serial ctDNA detection was used to monitor the efficacy of lapatinib. The aberration of HER2 copy number disappeared when radiographic assessment revealed a partial response. However, a high level of HER2 amplification was detected again at the time of disease progression. Finally, a phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha mutation was identified at the time of tumor progression, which may explain the acquired resistance to lapatinib.
This is the first case report of HER2-positive RAS/BRAF wild-type metastatic CRC patient responding to lapatinib monotherapy. It highlights that ctDNA testing is an effective and feasible approach to evaluate the efficacy of anti-HER2 therapy.
Core Tip: While dual anti-human epidermal growth factor receptor 2 (HER2) therapies are recommend as standard treatment for HER2-positive advanced colorectal cancer, anti-HER2 monotherapy is rarely used to treat this population. This case is the first report of a HER2-positive RAS/BRAF-wild-type metastatic colorectal cancer patient achieving a partial response following lapatinib monotherapy without serious adverse events. Next generation sequencing based circulating tumor DNA testing played an essential role in both treatment decision and efficacy/resistance monitoring.