Prioritizing Patients with Rare Cancers and Blood Disorders

Initiative improves access to specialists, advanced treatments

Patients with rare cancers and blood diseases often have difficulty finding clinicians with the necessary expertise, and when they do, significant travel often is necessary to receive treatment. As a result, rare diseases are more frequently diagnosed in late stages, leading to therapeutic challenges and poor outcomes.

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What defines a rare disease? While there is debate about the exact definition, at Cleveland Clinic Cancer Center a condition is considered rare when the annual incidence of new cases is two or less per 100,000 people.

“There are huge diagnostic complexities and difficulties associated with the diagnoses of rare conditions due to the level of pathologic expertise required, which may not be available at many institutions,” notes Sudipto Mukherjee, MD, MPH, Co-Leader of Cleveland Clinic Cancer Center’s Rare Cancers and Blood Diseases Initiative. “Patients can end up going to multiple doctors and facilities over several years before a final accurate diagnosis is made and appropriate treatment initiated.”

“Cancer centers oftentimes don’t have a consistent level of evidence and research available when it comes to the best course of treatment for these uncommon diseases,” adds Co-Leader Dale Shepard, MD, PhD, who focuses on solid tumors. “Without a clear path forward, this can lead to under- or overtreatment, depending on the case.”

Team approach is key

Cleveland Clinic Cancer Center’s Rare Cancers and Blood Diseases initiative uses a multidisciplinary approach that includes a highly sub-specialized team of medical and radiation oncologists, surgeons, radiologists and pathologists.

With more than 80 experts and growing, the rare cancers team is well-equipped to tackle the challenges associated with these conditions. Currently, the initiative encompasses 40 solid tumors and 47 liquid diseases, including chest wall sarcomas, histologic variants of bladder cancer, B-cell neoplasms and chronic myeloid leukemia (CML).

Launched in 2018, the initiative has seen a dramatic increase in the volume of patients receiving treatment. “On the hematologic side alone, we are seeing roughly 100 to 120 cases every year,” says Dr. Mukherjee, who manages hematologic malignancies and blood diseases within the initiative.

“Our efforts help ensure that patients are scheduled with an appropriate specialist within our seven-day access timeframe,” he says. “This process is supported by an all-encompassing physician matrix that helps us match patients to the multidisciplinary team that best meets their needs. It highlights our team-of-teams approach to care.”

Because Cleveland Clinic is a major referral center, patients may access the Rare Cancers and Blood Disease teams through multiple paths. Community providers frequently reach out to the rare cancers team when a case requires special expertise. Other times, patients themselves seek a second opinion. Additional referral avenues include support groups and social media.

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“Most of these conditions have advocacy groups that we work with to help provide education, and often we receive referrals from them as well,” says Dr. Shepard. “We are working to further develop our connection to these groups so that they know we are here to help in any way we can.  We have also realized the importance of support groups on Facebook, for example, to reach patients who need assistance as they navigate an uncharted path”

Exploring new research avenues

In addition to providing highly specialized clinical care, the Rare Cancers and Blood Diseases Initiative is using its expertise and connections to build a strong research component.

“For most patients with rare diseases, there is no such thing as a standard of care,” explains Dr. Mukherjee. “In an effort to change this, we have several clinical trials underway and are in the process of opening more in the months and years ahead.”

For instance, Dr. Shepard opened a trial for patients with epithelioid hemangioendothelioma, a rare subtype of sarcoma that only has about 300 new cases diagnosed per year.

“Within a fairly short period of time, we put three patients on the clinical trial, which will hopefully help us better understand the optimal treatment approach,” he says. “This is an example of how we are tapping into the expertise of our team to benefit the research community and, ultimately, our patients.”

Recently published studies involving Rare Cancers and Blood Diseases research include:

There are a number of ongoing and planned studies involving rare solid and liquid tumors, as well as novel blood diseases.

“In the near future, we will be opening a clinical trial that will include whole exome sequencing on the tissue specimens of patients with histiocytic disorders and Castleman disease,” says Dr. Mukherjee. “I believe, when that study is finished, we will gain a fundamental understanding about any novel mutations, which could then possibly become therapeutic targets in future clinical trials.

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The rare cancers initiative also collaborates with organizations that support research and facilitate connections among scientists at various institutions. “We are a participating member of the Castleman Disease Collaborative Network and the North American Consortium for Histiocytosis,” says Dr. Mukherjee.

“Cleveland Clinic Cancer Center is also part of the Cure CML Consortium, which allows us to open clinical trials quicker and give patients access to new therapeutic options,” he says. “Our team is also seeking additional opportunities to help facilitate the growth of other rare disease consortiums.”

Making the commitment

Building a foundation that supports rare conditions requires significant commitment and resources. Cleveland Clinic and the Taussig Cancer Institute have provided that, the two physicians say.

“This endeavor is a top priority across our institution,” Dr. Shepard says. “Rare diseases actually constitute a larger portion of the cancer patient population than most people realize. We want to ensure that these patients receive comprehensive, responsible care.”

The Rare Cancers and Blood Diseases team is committed to broadening its expertise and scope.

“We have been offering patients with traditional cancers access to exceptional care for years,” Dr. Mukherjee says. “And we want to be able to do the same for those with rare conditions. Our team is dedicated to the ongoing development of our expertise and skills, so we can confidently say that rare diseases are not rare to us.”