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Correspondence to Author: Christina Ternent, Whitney Wedel, Soe Min Tun,Shari Fiala, Tonya Peterson, Bronson Reily, Charles Kelly Simpson, Adam Horn, Nicholas Lintel, Carlene Springer, Leslie Robbins, Mehmet Sitki Copur. 

Medical Director of Oncology,Medical Oncology/Hematology Professor, University of Nebraska Medical Center, Adjunct Faculty,Omaha.

DOI: 10.52338/tjoco.2024.4204

Abstract:

Background : MMR protein deficient colorectal cancer (CRC) has distinctive clinical and pathologic features which can be either sporadic or inherited. Mismatch Repair (MMR), Microsatellite Instability (MSI) testing of CRC tumor tissue for absent MMR proteins and BRAF (V600E) mutation has become a routine practice in most tertiary cancer centers. We sought to examine the utilization of MMR and BRAF testing and genetic consultation referral pattern in the diagnostic evaluation and management of CRC patients in a community hospital-based cancer center in rural central Nebraska.
Methods : All pathologically confirmed CRC patients diagnosed between January 2018 and December 2023 at Morrison Cancer Center in central rural Nebraska were evaluated. Data on age, gender, tumor location, stage, tumor testing for MMR, BRAF (V600E) and genetic consultation referrals were collected and analyzed. The independent sample t-test, and Fisher’s exact tests were used to look at the association of patient characteristics based on the MMR status.
Results: Among a total of 272 patients (137 female, 135 male, median age 71), seventy-nine percent (215/272)were nonmetastatic and twenty-one percent (57/272)) were metastatic CRC. Overall, 75% (205/272) of patients had MMR/MSI testing done and 32% (86/272) had BRAF V600E testing performed. Fifteen percent (42/272) of all CRC patients had deficient MMR (dMMR) and 60% (163/272) had proficient MMR (pMMR) while 67/272 (25%) patients did not have MMR testing. Thirty-nine percent (107/272) of all CRC patients were referred for genetic consultation but only 12% (33/272) of them followed through with their appointment. Four patients (4/272,1.4%) were diagnosed with Lynch Syndrome. Among 205 patients who had MMR/MSI testing, metastatic CRC patients were more likely to have dMMR status than non-metastatic CRC patients [4/47 (8.5%) vs 38/158 (2.4%)], p=0.023. More patients with dMMR status than pMMR status had BRAF mutation [22/28 (78%) vs 6/28 (21%)], p=0.0001. Genetic consultation referrals and Lynch syndrome were more likely in dMMR CRC group than pMMR group.
Conclusions: We present a real world rural community hospital based cancer center data from central Nebraska. Our data provides a glimpse of universal molecular testing and genetic consultation referral practice pattern for CRC patients in a rural community-based cancer center. Efforts to enhance the accessibility and integration of universal molecular testing and genetic counseling services into routine cancer care at the rural community oncology settings are crucial to ensure equitable cancer care for all patients, regardless of their geographic location.

Citation:

Mehmet Sitki Copur.Mismatch Repair/Microsatellite Instability Testing and Genetic Consult Referral Practice Patterns for Colorectal Cancer in a Community Hospital Based Cancer Center in Rural Central Nebraska. The Journal of Clinical Oncology 2024.