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VICC helps launch new alliance for rare kidney cancer

Aug. 18, 2016, 9:05 AM

Children, adolescents or young adults, particularly African-Americans, diagnosed with advanced kidney cancer may actually have a rare form of the disease known as renal medullary carcinoma (RMC) that requires a specialized approach and expert intervention.

However, patients and even physicians don’t always know about the disease and those patients may not always be receiving appropriate treatment.

The aggressive, often rapidly fatal cancer is usually diagnosed in patients between the ages of 10 and 30 and is linked to those who have an inherited red blood cell disorder known as sickle cell trait or sickle cell disease. Sickle cell disorders are most prevalent in the U.S. among African-Americans.

W. Kimryn Rathmell, M.D., Ph.D.
W. Kimryn Rathmell, M.D., Ph.D.

“Young patients, especially African-Americans, who get aggressive kidney cancer should not be treated the same way as conventional renal cell carcinoma. There’s a completely different algorithm for therapy that they should be considering,” said W. Kimryn (Kim) Rathmell, M.D., Ph.D., Cornelius A. Craig Professor of Medicine and director of the Division of Hematology/Oncology at Vanderbilt-Ingram Cancer Center (VICC).

To enhance knowledge about renal medullary carcinoma, Rathmell, along with Nizar Tannir, M.D., of MD Anderson Cancer Center in Houston, Texas, organized a meeting of leading experts on the disease, held in Nashville at the Scarritt-Bennett Center and supported by the William Guy Forbeck Research Foundation. The Forbeck Foundation supports collaborative work to advance the development of cures for cancer, particularly rare cancers that affect children.

The meeting featured 17 physicians and investigators from around the world who specialize in treatment and research for this type of cancer.

“A unique aspect of this meeting was that because this disease can be considered from so many different specialties, we brought together experts from oncology, surgery, genetics, sickle cell disease, pathology and nephrology to work together as one community focused on RMC. The interactions were terrific and went a long way toward defining the features of this cancer for physicians and patients,” Rathmell said.

The investigators hope the event will set the stage for more research that may help patients with RMC.

“We don’t know how many patients get this cancer because it’s likely under-recognized and there’s not a good pathologic definition that is widely understood outside major medical centers. All of us at this meeting have had the experience of young patients who were told they had kidney cancer, were treated inappropriately and usually sent home to die, and then they reached out to us,” Rathmell explained.

The group has formed an international RMC Alliance to spearhead recognition of the illness in addition to new research initiatives. The group also launched an international disease registry headed by Vanderbilt oncology fellow Deva Sharma, M.D., M.S., with the support of Michael DeBaun, M.D., MPH, J.C. Peterson, M.D., Endowed Professor of Pediatrics and medical director of the Vanderbilt-Meharry Center for Excellence in Sickle Cell Disease. A future tumor tissue component of the registry may be housed at another major medical center.

Rathmell said physicians and pathologists need to be aware of the disease so additional testing can be done to identify a specific biomarker for the illness. The biomarker is an alteration of the SMARCB1 gene by either deletion or translocation leading to a loss of the INI1protein from the tumor cell. This INI1 protein loss can be detected by a negative immunostain and confirms the diagnosis of RMC. Cancerous cells multiply rapidly when tumor-suppressor genes like INI1 are turned off.

Based on these findings, patients with renal medullary carcinoma are advised to consider enrollment in clinical trials, including those for new investigational drugs that inhibit the EZH2 protein. VICC has opened what is known as a “basket” trial for patients with various types of cancer that exhibit molecular alterations susceptible to EZH2 inhibitors, no matter where in the body the tumor is found.

Trials specifically tailored to this population are now open at MD Anderson Cancer Center and Memorial Sloan Kettering Cancer Center, and through the RMC Alliance, the hope is to extend these studies to a broader range of institutions.

In conjunction with patient advocates who also attended the meeting, the group is supporting a social media campaign dubbed RMC Support that can be found on Facebook and on Twitter under the handle @RMCSupport.

For more details about this illness and those who may be at risk, contact or call 877-936-8422.


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