New Study Evaluates Peripheral Neuropathy Associated with Chemotherapy in Charcot-Marie-Tooth Disease Gene Variants

Chemotherapy-induced peripheral neuropathy, or CIPN, is a common side effect of chemotherapy. A recent study aimed to uncover whether or not oxaliplatin chemotherapy increased risk of CIPN for those with Charcot-Marie-Tooth disease (CMT) . Specifically, they wanted to know whether or not this risk was higher for uncommon gene variants associated with CMT.

Phase 3 Trial

This study, completed by researchers at the Mayo Clinic, was recently published.

Single nucleotide variants or, SNV, are rare gene variants causing CMT. Gene variants are alterations to one nucleotide in a gene. Researchers in this study aimed to determine whether oxaliplatin was linked to higher CIPN risk for those with these unique, and uncommon, gene variants.

To do so, data from previous cancer patients who had been treated with oxaliplatin were analyzed.

353 patients, all diagnosed with colorectal cancer, were included in this study.

First, all patients were evaluated using a patient-reported measure of neuropathy. Then, all of the patients were divided into groups based on their total scores. Patients who had the highest scores were seen as “cases” and those with the lowest scores were treated as controls.

The researchers found that the “case” patients had worsening symptoms following the chemotherapy. The control patients did not follow this same pattern.

Gene Variants

The team also used next-generation sequencing to look at the patient’s DNA and investigate variants in the 49 genes associated with CMT. 77 case patients and 80 controls were examined to find a total of 270 SNV. 143 of these were present in a singular patient. In total, there was an average of .91 SNV for each patient (.84 for case patients and .98 for controls).

The unique gene variants were comparable between the cases and the controls. For cases, PRX genes (linked to CMT type 4F) as well as the IGHMBP2 gene (linked to CMT type 2) were more common. But for controls, PLEKHG5 genes (linked to intermediate CMT diagnoses) were more common.

Overall, SNV were not found to increase risk of CIPN for patients. That means that oxaliplatin, which can be a life-saving therapy, should be used when needed and not withheld due to CIPN fears regardless of varying genetic variants associated with CMT.

You can read more about this study here.

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