Renal Medullary Carcinoma

W. Kimryn Rathmell MD, Ph.D., Vanderbilt University
Nizar Tannir MD, MD Anderson Cancer Center

Miguel Abboud, MD
Yves Allory, MD, Ph.D.
Franck Bourdeaut, MD, Ph.D.
Julien Calderaro, MD
Michael DeBaun, MD
Vimal Derebail, MD
Andrew Hong, MD, Ph.D.
Gabriel Malouf, MD, Ph.D.
Elizabeth Mullen, MD
Rahki Naik, MD
Victor Reuter, MD
Charles Roberts, MD, Ph.D.
Heinrich Van Poppel, MD
Cheryl Walker, Ph.D.
Christopher Wood, MD


Similar to the original meeting organized by the Forbeck Foundation just over 30 years ago, this year's Forbeck Focus Meeting tackled a rare cancer disorder, Renal Medullary Carcinoma (RMC). This cancer disproportionately affects teens and young adults who are also carriers of the sickle hemoglobin gene, or other hemoglobinopathies. The cancer originates in the kidney, and is rapidly progressive, and almost universally fatal. Because of the rarity of this cancer, even the overall incidence is not known, and little community discussion exists around its underlying biology, etiology, or standards for treatment.

This meeting brought together a panel of international experts in the diverse fields that encounter this disease: pediatric and adult hematologists specializing in hemoglobinopathy, pediatric and adult medical oncologists, urologists, pathologists, nephrologists, and genome scientists. Together the group worked to define the issues that complicate the diagnosis, and established a working set of definitions for this disease. The group tackled existing database repositories, and the reasons why these patients are not all being accounted for and not currently being included in greater numbers. In addition, it became evident that the incidence is very hard to measure with present methodologies. The group explored the unique environment of the kidney and the genetic association with sickled hemoglobin, in both the heterozygous sickle cell trait scenario, and in the setting of sickle cell disease. We examined the emerging biology that is developing for the classical form, and considered the past experience with chemotherapy and surgery in the context of a new clinical trial designed to test a EZH2 inhibitor. This treatment option has a strong rationale that has emerged from the investigations around SMARCB1 inactivation occurring in the majority of cases.

The outcome of the meeting was measured first in the development of relationships between investigators around the world who came to renal medullary carcinoma with a diverse set of interests, but who are united in their determination to improve the outcome for children, young adults, and families facing this cancer. A consensus review article is being drafted and has been invited by a prestigious journal in the field. Most importantly, we committed to a series of tasks to elevate the visibility of this disease, to raise awareness regarding its diagnosis and treatment among physicians, to collectively share our experience in an international registry, a unified commitment to collect tumor specimens for cell line development, enroll patients into existing databases as well as the international registry, and to eventually network around a shared tumor bank and clinical trails/access program. When we meet again in 2017 it will be as the RMC Alliance, and between now and then we hope to increase awareness through our advocates, be able to report positive results of the first clinical trial in this disease and have developed a clinical trails referral network, have firmly established the diagnostic criteria for RMC, and have established a registry and the start of a tumor bank to allow more advanced studies of the epidemiology, biology, and best practices for management of these patients.