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What's being done to advance research on rare cancers

Medical centers in Pennsylvania and across the U.S. cannot offer many treatment options when it comes to rare cancers, and this is one of the greatest challenges that patients have to face. It stems from the fact that rare tumors are difficult to study. With not enough patients who can be gathered for group clinical trials, doctors only have individual case reports to go off. Furthermore, there are few doctors who specialize in rare cancers in the first place.

However, cancer treatments that target genetic mutations rather than the location where the cancer originated may improve how rare cancers are dealt with. For example, the DNA in some tumors cannot repair itself. This condition is known as a mismatch repair deficiency and can be found in both rare cancers like rhabdomyosarcoma and frequently reported cancers like breast, prostate and colon cancer. Several immunotherapy drugs exist that can treat the deficiency; therefore, they can be useful for these rare cancers.

Research into rare conditions can be accelerated with the help of patient registries. These allow patients to enter in self-reported and clinical information without having to travel or meet clinical trial eligibility requirements. Doctors can then analyze this information for common characteristics among those with rare tumors. There are also plenty of grassroots efforts aimed at the development of drugs targeting rare diseases.

Some rare cancers can be misdiagnosed, in which case patients may undergo unnecessary treatments and suffer in ways that could have been prevented. If a diagnostic error appears to be the result of negligence, then victims may have a case under medical malpractice law, but they may want to speak with an attorney first. After the case evaluation, the attorney may request an inquiry with the local medical board. Third-party investigators might come in to gather evidence before the attorney proceeds to negotiations.

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