Affiliation:
1. Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo Buffalo New York USA
2. The Division of Hematology and Oncology St. Louis Children's Hospital, Washington University School of Medicine in St. Louis St. Louis Missouri USA
3. Division of Hematology/Oncology/Bone Marrow Transplant Department of Pediatrics Nationwide Children's Hospital, The Ohio State University Columbus Ohio USA
4. Departments of Pediatrics and Radiation Oncology The Ohio State University College of Medicine Columbus Ohio USA
5. Division of Pediatric Oncology Department of Pediatrics Roswell Park Comprehensive Cancer Center, University at Buffalo Jacobs School of Medicine and Biomedical Sciences Buffalo New York USA
Abstract
AbstractRhabdoid tumor predisposition syndrome (RTPS) is a rare disorder associated with malignant rhabdoid tumor of the kidney (RTK), atypical teratoid rhabdoid tumor (ATRT), and/or other extracranial, extrarenal rhabdoid tumors (EERT), and these pediatric malignancies are difficult to treat. Presently, most of the information regarding clinical manifestations, treatment, and outcomes of rhabdoid tumors comes from large data registries and case series. Our current understanding of treatments for patients with rhabdoid tumors may inform how we approach patients with RTPS. In this manuscript, we review the genetic and clinical features of RTPS and, using known registry data and clinical reports, review associated tumor types ATRT, RTK, and EERT, closing with potential new approaches to treatment. We propose collaborative international efforts to study the use of SMARC (SWI/SNF‐related, matrix‐associated, actin‐dependent regulator of chromatin)‐targeting agents, high‐dose consolidative therapy, and age‐based irradiation of disease sites in RTPS.
Funder
National Cancer Institute