Misdiagnosis of MDS common, may lead to harmful consequences
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Key takeaways:
- Nearly one-third of patients received a reclassified diagnosis.
- Seven percent of misdiagnosed patients received inappropriate therapy.
Misdiagnoses of myelodysplastic syndrome appeared common among patients included in MDS Natural History Study, according to study results published in Blood Advances.
The findings indicate patients misdiagnosed with myelodysplastic syndrome (MDS) or MDS/myeloproliferative neoplasms (MPN) may be at increased risk for treatment mistakes and other potentially harmful consequences, researchers concluded.
Rationale and methodology
The NHLBI’s prospective National MDS Natural History Study is “a national treasure” through which researchers have collected clinical and pathologic data on nearly 2,000 patients with a suspected diagnosis of MDS to allow for the prospective study of the natural history of these diagnoses, according to Mikkael A. Sekeres, MD, MS, chief of the division of hematology and professor of medicine at Sylvester Cancer Center at University of Miami, told Healio.
“In so doing, we have also created a data and specimen biorepository for researchers to answer the critical question around MDS and related disorders,” Sekeres told Healio. “As information about these patients came into the central lab, we noticed discrepancies between diagnoses made at local sites and the final diagnosis determined by our expert pathologists. We decided to measure how often this occurred, and to focus on differences in diagnoses.
“Pathologists might disagree on whether a patient has 14% ring sideroblasts or 16% ring sideroblasts, which could alter the designation of an MDS subtype,” Sekeres added. “However, in this study, we wanted to see if they disagreed on major diagnoses, such as whether the patient has MDS or [acute myeloid leukemia (AML)], or did one pathologist report MDS while another reported a vitamin deficiency?”
Sekeres and colleagues compared local and central clinical site diagnoses among 918 patients with suspected MDS or MDS/MPN enrolled in the National MDS Natural History Study.
They sought to quantify rates and degrees of clinically meaningful differences among MDS categories and determine whether misdiagnoses affected the treatment provided.
Findings
Local diagnoses included MDS (29%), MDS/MPN overlap (2%), idiopathic cytopenia of undetermined significance (7%). No patients received a diagnosis of AML with less than 30% blasts. The remaining 63% of patients received “other” diagnoses.
After central review, nearly one-third (29%) of cases were reclassified, with 29% of those reclassified as MDS, 5% reclassified as MDS/MPN overlap, 5% reclassified as idiopathic cytopenia of undetermined significance, 2% reclassified as AML with less than 30% blasts, and 59% reclassified as “other” diagnoses.
Site miscoding errors accounted for 53% of local misdiagnoses, resulting in a true misdiagnosis rates of 15% overall and 21% for MDS.
Data showed therapies reported for 37% of patients, including 43% diagnosed with MDS, 49% with MDS/MPN, and 86% of those with AML and less than 30% blasts.
Researchers observed a lower treatment rate among those with true discordance in diagnosis than those with concordant local and central diagnoses (25% vs. 40%).
“While some diagnosis reclassification was due to site miscoding errors — which has implications for accuracy of national databases such as SEER or cancer registries — one out of five patients with MDS received a different diagnosis from a local site compared with a central site,” Sekeres said “When we assessed those with misdiagnoses to see whether they received the wrong treatment based on the local diagnosis, we were stunned to find that this occurred 7% of the time.”
Implications
Misdiagnosis of cancer is not unique to MDS. It occurs with other hematologic malignancies and solid tumors at about the same rate, Sekeres told Healio.
“As we demonstrated, misdiagnosis can affect the accuracy of treatments that patients receive and has implications for the basis for cancer drugs approved by the FDA, if the diagnoses on registration trials are not confirmed by experts,” Sekeres said. “Cancer diagnoses — particularly rare ones — should be confirmed by expert pathologists. A pathologic confirmation should also be a routine part of a second opinion for treatment.”
References:
- Does that MDS diagnosis need a second opinion? (press release). Available at: https://www.eurekalert.org/news-releases/997793. Published Aug. 8, 2023. Accessed Aug. 14, 2023.
- Gorak E, et al. Blood Adv. 2023;doi:10.1182/bloodadvances.2023010061.
For more information:
Mikkael A. Sekeres, MD, MS, can be reached at msekeres@med.miami.edu.
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