Myelodysplastic syndromes diagnosis may need a second opinion

Blood disorders known as myelodysplastic syndromes/neoplasms (MDS) are difficult to diagnose-and are commonly misdiagnosed-putting patients at increased risk for treatment mistakes and other potentially harmful consequences, according to researchers with Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine and collaborating organizations.

The actual number of MDS diagnosed could be higher due to underreporting and misclassification. The team compared the results from more than 900 patients enrolled in the National Heart, Lung and Blood Institute’s (NHLBI) National MDS Natural History Study

For this study, the researchers compared local and centrally reviewed diagnoses to quantify rates and degrees of clinically meaningful differences among MDS categories. They also determined if misdiagnoses affected the provided therapy.

Key findings from the study included:

Approximately one-third of cases received diagnostic reclassification after central pathologists’ review.

One-fifth of MDS diagnoses were reclassified.

15% percent of the disagreements between local and central pathologists were the result of site miscoding errors by research coordinators, calling into question the accuracy of national cancer registries that include patients with MDS.

Treatment rates were lower in cases with diagnostic disagreement versus ones in which local and central reviewers agreed.

Misdiagnosed cases led to patients receiving inappropriate therapy in 7% of cases.

Reference: Discordant Pathologic Diagnoses of Myelodysplastic Neoplasms and Their Implications for Registries and Therapies, Blood Advances; DOI 10.1182/bloodadvances.2023010061