Molecular profile testing uncovers misdiagnoses of brain tumors

A global study on pediatric brain tumors that involved over 150 institutions revealed that traditional diagnostic methods often produced inaccurate diagnoses. For families in New York with children suffering from brain tumors, the study highlighted the importance of confirming a diagnosis with molecular profile testing.

The test, known specifically as DNA methylation profiling, looks at the molecular content of tumor cells. This analysis uncovers substantial differences among tumors with cells that largely look the same under a microscope. Traditionally, pathologists have arrived at their diagnoses based upon what cells look like, but their mistakes could cause patients to receive the wrong treatments.

Researchers looked at samples from 31 patients who had been diagnosed with a brain cancer referred to as CNS-PNET. After performing DNA methylation profiling on the samples, they determined that 22 of those patients had tumors with substantially different biology than CNS-PNET. A lead scientist of the study strongly urged parents of children with brain tumors to request the DNA methylation test because a misdiagnosis could steer a patient away from appropriate treatments.

Frequently, a person’s diagnosis depends on the experience and opinion of one or more health care professionals. A doctor has a duty to follow accepted standards of care when making diagnostic decisions, and medical malpractice might occur if a doctor fails to investigate symptoms thoroughly. A person harmed by a misdiagnosis or delayed diagnosis might want to discuss the possibility of medical professional negligence with an attorney. An attorney could arrange for an outside medical review of the case by an independent doctor. To hold a responsible party accountable for suffering, medical bills and lost income, an attorney could organize evidence of medical mistakes and pursue damages in court.


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