MDS Diagnoses Need an Expert Opinion


Patients with myelodysplastic syndrome should seek an expert opinion on their disease to ensure an accurate diagnosis and proper treatment plan.

image of doctor and patient

Myelodysplastic syndromes (MDS) are rare blood cancers that can often be difficult to diagnose, highlighting the importance of patients getting second expert opinions — if possible — after receiving their diagnosis, according to research conducted at the Sylvester Comprehensive Cancer in Miami, and published in the journal, Blood Advances.

“We found that expert pathologists had major disagreements with local pathologists’ diagnoses in about 20% of overall cases,” Dr. Mikkael Sekeres, chief of Sylvester’s Division of Hematology and corresponding study author, said in a press release. “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.”

Sekeres and the team of researchers analyzed data from 900 patients whose information was in the National Heart, Lung and Blood Institute’s National MDS Natural History Study, an ongoing study that involves patient information from 144 sites in the United States and Israel. Patients in this trial all were either suspected of having MDS or have received an MDS diagnosis and have a scheduled bone marrow biopsy.

Patients received their MDS diagnosis from local pathologists, who use the World Health Organization’s classification for MDS. These findings and the bone marrow specimens are then reviewed again by an expert pathologist from academic medical centers who specialize in cancers of the blood and bone marrow.

Findings showed that approximately one-third of cases were reclassified after the expert pathologist reviewed the data. Additionally, about a fifth of MDS diagnoses were reclassified. Among patients who were misdiagnosed, 7% received inappropriate care.

Notably, 15% of conflicting opinions between the local and expert pathologists were a result of site miscoding errors by research coordinators. Among these patients who had pathology disagreements, the study authors also observed lower treatment rates.

A delay or incorrect treatment could not only cause unneeded side effects and toxicity, but could also put a patient at risk of having their disease morph into acute myeloid leukemia — a more aggressive blood cancer the patients with MDS are at risk of developing.

“Our findings highlight the vital importance of seeking expert opinions from National Cancer Institute-designated cancer centers, especially with rare blood and bone marrow cancers such as MDS,” said Sekeres, who noted that community-based oncologists and pathologists have far more experience with common cancers — such as solid cancers like breast cancer — than they do with rarer blood diseases like MDS, which is diagnosed in approximately four of every 100,000 individuals in the United States. They may miss subtleties that would cause them to question the verity of rarer diagnoses.”

The errors and misdiagnoses found in this study raised questions about large, population-based databases and registries, such as the Surveillance, Epidemiology and End Results (SEER) database, which is the basis of many different research studies.

“Our findings help to explain discrepancies in regional and national database reporting of MDS incidence rates, subtypes and outcomes,” Sekeres said. “Diagnostic disagreements, coding errors and evolving diagnostic guidelines call into question the accuracy of current population-based data.”

In short, Sekeres highly recommends that patients with a suspected hematologic malignancy diagnosis be seen by an expert.

“Blood cancers are tricky to diagnose,” Sekeres said, “and require second opinions from highly specialized clinicians coordinating with highly skilled pathologists to ensure patients are accurately diagnosed and get the right treatment in a timely manner.”

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