Evidence on Genomic Tests: Thiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk
2011

TPMT Genotyping to Predict Myelosuppression Risk

publication Evidence: moderate

Author Information

Author(s): Nguyen Christine M., Mendes Margaret A., Ma Joseph D.

Primary Institution: VA San Diego Healthcare System and UCSD Skaggs School of Pharmacy and Pharmaceutical Sciences

Hypothesis

Can TPMT genotyping predict the risk of myelosuppression in patients treated with thiopurine drugs?

Conclusion

TPMT genotyping may help predict myelosuppression risk, but it should not replace regular blood monitoring.

Supporting Evidence

  • Approximately 86-97% of patients have the wild-type TPMT genotype.
  • Patients with the homozygous TPMT variant genotype have the highest risk of severe myelosuppression.
  • TPMT genotyping may help guide dose adjustments for thiopurine drugs.

Takeaway

Doctors can test a gene to see if a medicine might make patients sick, but they still need to check their blood regularly.

Methodology

The TPMT genotype assay uses PCR amplification followed by single nucleotide primer extension to detect specific TPMT alleles.

Limitations

The TPMT genotype test cannot detect all mutations and should not be the only method used to assess myelosuppression risk.

Participant Demographics

The study included patients of various ethnicities, including Caucasians, Asians, and African Americans.

Statistical Information

Confidence Interval

95% CI = 4.12-83.60 for homozygous TPMT genotype developing severe myelosuppression.

Digital Object Identifier (DOI)

10.1371/currents.RRN1236

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