14 August 2023

A group of blood cancers called myelodysplastic syndromes are commonly misdiagnosed, researchers have found, which they believe has serious implications for patients, clinical trials, and disease registries.

Myelodysplastic syndromes (MDS) are a diverse group of blood cancers, which can be difficult to diagnose. Survival rates for these conditions range from over a decade to less than one year, depending on disease severity and other factors.

A US research team, led jointly by Dr Mikkael Sekeres of the University of Miami and Dr Amy DeZern from Johns Hopkins University in Baltimore, investigated the challenges of diagnosing MDS using data from the National MDS Natural History study, based in the US and Israel.

In the National MDS Natural History study, local pathologists at each study centre use the World Health Organization’s classifications for diagnosis. After this, a more senior pathologist confirms or refutes the diagnosis based on a bone marrow test, lab results, and other patient information.

The current study compared local diagnoses and centrally reviewed diagnoses for more than 900 patients. It found that about a third of cases (303) were reclassified after expert review.

Over half of these errors were due to miscoding of the local diagnoses, where the information entered by research coordinators differed from the local pathologist’s diagnosis. Once this had been corrected, this left a ‘true’ misdiagnosis rate of 15% overall.

Patient treatment was influenced by these diagnostic disagreements. Treatment rates were significantly lower for patients with discordant diagnoses (25%), compared to those where the local and central pathologies agreed on the diagnosis (40%).

Of the patients where there was a disagreement in diagnosis, 7% of patients were found to be receiving inappropriate therapy.

Dr Sekeres said: “We found that expert pathologists had major disagreements with local pathologists’ diagnoses in about 20% of overall cases.

“Some patients were told they had cancer when they didn’t, or the opposite - that they did not have cancer when, in fact, they did. More importantly, we showed that misdiagnosed patients received the wrong initial treatment almost 10% of the time.

“Our findings highlight the vital importance of seeking expert opinions from National Cancer Institute-designated cancer centres, especially with rare blood and bone marrow cancers such as myelodysplastic syndromes.”



Gorak E, Otterstatter M, Al Baghdadi T, Gillis N, Foran JM, Liu JJ, Bejar R, Gore SD, Kroft SH, Harrington AM, Saber W, Starczynowski DT, Rollison DE, Zhang L, Moscinski LC, Wilson SH, Thompson J, Borchert C, Sherman S, Hebert D, Walker ME, Padron E, DeZern A, Sekeres MA. (2023) “Discordant Pathologic Diagnoses of Myelodysplastic Neoplasms and Their Implications for Registries and Therapies.” Blood Advances, doi: 10.1182/bloodadvances.2023010061

Link: https://ashpublications.org/bloodadvances/article/doi/10.1182/bloodadvances.2023010061

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