Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy

Elias Bou Farhat; Elio Adib; Melissa Daou; Abdul Rafeh Naqash; Ursula Matulonis; Kimmie Ng; David J Kwiatkowski; Lynette M Sholl; Amin H Nassar

doi:10.1016/j.ccell.2023.12.001

Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy

Cancer Cell. 2024 Jan 8;42(1):6-7. doi: 10.1016/j.ccell.2023.12.001. Epub 2023 Dec 28.

Authors

Elias Bou Farhat¹, Elio Adib¹, Melissa Daou¹, Abdul Rafeh Naqash², Ursula Matulonis³, Kimmie Ng³, David J Kwiatkowski¹, Lynette M Sholl¹, Amin H Nassar⁴

Affiliations

¹ Brigham and Women's Hospital, Boston, MA, USA.
² University of Oklahoma, Stephenson Cancer Center, Oklahoma City, OK, USA.
³ Dana-Farber Cancer Institute, Boston, MA, USA.
⁴ Brigham and Women's Hospital, Boston, MA, USA; Yale Cancer Center, New Haven, CT, USA. Electronic address: amin.nassar@yale.edu.

PMID: 38157866
DOI: 10.1016/j.ccell.2023.12.001

Abstract

Immunohistochemistry (IHC) is currently the first-line test for mismatch repair deficiency (MMR-D). Bou Farhat et al. show that mismatch repair (MMR) mutation signature by next-generation sequencing is a highly sensitive assay capable of detecting MMR-D cases that are missed in 1% and 5% of patients with MMR-D colorectal cancer (CRC) and endometrial cancer (EC), respectively. Patients with MMR-D tumors missed by IHC have similar clinical outcomes to patients with MMR-D by both IHC and mutation signature.

Publication types

Letter

MeSH terms

Benchmarking
Brain Neoplasms
Colorectal Neoplasms* / genetics
Colorectal Neoplasms* / therapy
DNA Mismatch Repair / genetics
Endometrial Neoplasms* / genetics
Endometrial Neoplasms* / therapy
Female
Humans
Microsatellite Instability
Neoplastic Syndromes, Hereditary*

Supplementary concepts

Turcot syndrome