Recommendations for the Use of Next-Generation Sequencing and the Molecular Tumor Board for Patients with Advanced Cancer: A Report from KSMO and KCSG Precision Medicine Networking Group

Abstract

Next-generation sequencing (NGS) is becoming essential in the fields of precision oncology.With implementation of NGS in daily clinic, the needs for continued education, facilitated interpretation of NGS results and optimal treatment delivery based on NGS results have been addressed. Molecular tumor board (MTB) is multidisciplinary approach to keep pace with the growing knowledge of complex molecular alterations in patients with advanced solid cancer.Although guidelines for NGS use and MTB have been developed in western countries, there is limitation for reflection of Korea's public health environment and daily clinical practice. These recommendations provide a critical guidance from NGS panel testing to final treatment decision based on MTB discussion.

Utilizing Plasma Circulating Tumor DNA Sequencing for Precision Medicine in the Management of Solid Cancers

“…Although tissue-based multigene assays are still the gold standard for molecular profiling of solid cancers, plasma ctDNA sequencing eliminates the need for invasive biopsies over tissue-based assays, making it an attractive alternative for patients who are unable to undergo invasive sampling due to medical conditions or tumor location, or who have insufficient or poor-quality biopsy tissue [1][2][3]18]. In addition, while tissue-based assays usually have a longer turnaround time (TAT) of up to 4 weeks, the TAT for plasma ctDNA sequencing was significantly shorter than tissue-based assays (median, 7-9 vs. 15-19 days) in multiple studies.…”

“…Identifying tumor molecular profiles, particularly multigene panel assays based on next-generation sequencing (NGS), has become essential for the management of many solid tumors [1][2][3]. While tissue-based assays have been the gold standard for mutational profiling of tumors, circulating tumor DNA (ctDNA) testing has emerged rapidly as a new diagnostic tool that can supplement or replace tissue-based assays [4].…”

Mutational evolution after chemotherapy‐progression in metastatic colorectal cancer revealed by circulating tumor DNA analysis

“…Genomic characterization at the time of tumor progression can provide clues to resistant mechanisms, and treatment-emergent mutations could be one of the primary targets for subsequent treatment development. [5][6][7][8][9][10][11] In metastatic colorectal cancer (mCRC), the majority of research aimed at identifying secondary resistance mechanisms has focused on anti-epidermal growth factor receptor (EGFR) therapy: mutations or amplification in RAS genes, EGFR extracellular domains (ECD) gene mutations, MET amplification and MEK mutations have been identified as major mechanisms of secondary resistance to anti-EGFR treatment. [12][13][14][15][16][17] HER2 amplification, BRAF mutation, epithelialmesenchymal transition and paracrine effects are also proposed as potential mechanisms.…”

“…However, the characterization of treatment‐resistant tumors at the time of acquired resistance may also have a significant impact, given that chemotherapy resistance is a major obstacle to improving treatment outcomes for advanced cancers. Genomic characterization at the time of tumor progression can provide clues to resistant mechanisms, and treatment‐emergent mutations could be one of the primary targets for subsequent treatment development 5–11 …”

Development of two 410-cancer-gene panel tests for solid tumors and liquid biopsy based on genome data of 5,143 Japanese cancer patients

“…In the profiling test, a treatment plan is determined by an expert panel based on clinically significant genetic changes detected in the analysis of paraffin sections. The results are discussed by a cancer board consisting of experts in different fields to determine the patient's drug treatment plan (Lane et al 2015;Sunami et al 2021;Yoon et al 2022).…”