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Renal Medullary Carcinoma

April 22–23, 2016

Chaired By

 Kimryn Rathmell MD, PhD of Vanderbilt University
 Nizar Tannir MD of MD Anderson Cancer Center

Meeting Description

Renal medullary carcinoma (RMC) is an orphan cancer of the kidney occurring in an exclusive population of adolescent and young adults who carry the sickle cell hemoglobin gene. This unusual and fascinating cancer is highly aggressive, and carries a high mortality associated with it's incidence. The true prevalence of the disease is unknown due to challenges in diagnosis, and the lack of effective reporting tools. Various therapies have been investigated in very small series—including multi-agent chemotherapy and various targeted therapies, but without consensus.

We are gathering a group of interested investigators to examine this disease in detail from a variety of perspectives. Over the course of two days we aim to examine the epidemiology, pathology, genetics, biology, and treatment of this disease.

It seems that in an era of expanded genomic capabilities, and increasing world-wide connectedness, that the time is ripe to make substantive advancements in providing consistent precision based treatment to these patients. However, thoughtful consideration should be devoted to how best to achieve these endeavors.

Major goals of this focus meeting will be threefold

  1. To start a conversation about this cancer, and begin to establish standards and guidelines around RMC disease management.
  2. To give voice to a community of patients, families, caregivers, and physician providers who are often isolated and in need of information for complex decision-making.
  3. To develop the plans for a consortium-based repository for data and tissue, and for the conduct of clinical trials. We will plan to submit a “white paper” that summarizes the state of the field for RMC, and we hope and anticipate that this is only the first of many meetings devoted to the topic of renal medullary carcinoma.

Meeting Summary

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.

Forum Participants

Miguel Abboud, MD
American University of Beirut

Yves Allory, MD, PhD
Hopital Henri-Mondor

Franck Bourdeaut, MD, PhD
Institute Curie Centre de Recherche

Julien Calderarao, MD
Hopital Henri-Mondor

Michael DeBaun, MD
Vanderbilt University

Vimal Derebail, MD
UNC Kidney Center

Andrew Hong, MD, PhD
Dana-Farber Cancer Institute

Gabriel Malouf, MD, PhD
Hopital de la Pitie-salpetriere

Elizabeth Mullen, MD
Dana-Farber Cancer Institute

Rakhi Naik, MD
Johns Hopkins Hospital

W. Kimryn Rathmell, MD, PhD
Vanderbilt University

Victor Reuter, MD
Memorial Sloan Kettering Cancer Center

Charles Roberts, MD, PhD
St. Jude's Medical Research Institute

Nizar Tannier, MD
MD Anderson Cancer Center

Hein Van Poppel, MD
Leuven Cancer Institute

Cheryl Walker, PhD
Texas A&M Institute of Biosciences and Technology

Christopher Wood, MD
MD Anderson Cancer Center

Xifeng Wu, MD, PhD
MD Anderson Cancer Center