Real-world study on microsatellite instability and mismatch repair deficiency testing patterns among patients with metastatic colorectal cancer in Spain

Clin Transl Oncol. 2024 Apr;26(4):864-871. doi: 10.1007/s12094-023-03309-z. Epub 2023 Aug 31.

Abstract

Purpose: Clinical practice guidelines recommend that all patients with metastatic colorectal cancer (mCRC) should be tested for mismatch repair deficiency (dMMR) or microsatellite instability-high (MSI-H). We aimed to describe the dMMR/MSI-H testing practice in patients with mCRC in Spanish centers.

Methods: Multicenter, observational retrospective study that included patients newly diagnosed with mCRC or who progressed to a metastatic stage from early/localized stages.

Results: Three hundred patients were included in the study from May 2020 through May 2021, with a median age of 68 years, and two hundred twenty-five (75%) had stage IV disease at initial diagnosis; two hundred eighty-four patients received first-line treatment, and dMMR/MSI-H testing was performed in two hundred fifty-one (84%) patients. The results of the dMMR/MSI-H tests were available in 61 (24%) of 251 patients before the diagnosis of metastatic disease and in 191 (81%) of 236 evaluable patients for this outcome before the initiation of first-line treatment. Among the 244 patients who were tested for dMMR/MSI-H with IHC or PCR, 14 (6%) were MMR deficient. The most frequent type of first-line treatment was the combination of chemotherapy and biological agent, that was received by 71% and 50% of patients with MMR proficient and deficient tumors, respectively, followed by chemotherapy alone, received in over 20% of patients in each subgroup. Only 29% of dMMR/MSI-H tumors received first-line immunotherapy.

Conclusion: Our study suggests that a high proportion of patients with mCRC are currently tested for dMMR/MSI-H in tertiary hospitals across Spain. However, there is still room for improvement until universal testing is achieved.

Trial registration: Not applicable.

Keywords: Metastatic colorectal cancer; Microsatellite instability; Microsatellite stable; Mismatch repair deficiency; Real-world evidence.

Publication types

  • Multicenter Study
  • Observational Study

MeSH terms

  • Aged
  • Brain Neoplasms*
  • Colonic Neoplasms* / pathology
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / drug therapy
  • Colorectal Neoplasms* / genetics
  • Humans
  • Microsatellite Instability
  • Neoplastic Syndromes, Hereditary*
  • Rectal Neoplasms*
  • Retrospective Studies
  • Spain

Supplementary concepts

  • Turcot syndrome