North American BCOR-mutated Sarcoma Registry

With the advent of newer molecular diagnostic techniques, many different cancers described in the past based on histopathology have been found to have a common genetic basis. Several sarcomas were recently described to contain mutation in the BCOR gene.

These include:

• Clear cell sarcoma of the kidney (CCSK)
• Undifferentiated sarcoma (UDS)
• Undifferentiated round cell sarcoma of infancy (URCS)
• Primitive myxoid mesenchymal tumor of infancy (PMMTI)

To date, BCOR genetic alterations identified in these tumors include an X chromosome inversion resulting in the BCOR-CCNB3 fusion gene in UDS and a distinct type of genetic alteration in BCOR known as ITDs (internal tandem duplications) in the CCSK tumors as well as the infantile URCS. Both ITDs and the BCOR-CCNB3 fusions are believed to play a role in the development of these tumors. Using molecular testing, these genetic alterations are now being detected in these tumors enabling accurate diagnosis and classification.

Despite progress in understanding the genetic basis of these tumors, several questions remain unanswered regarding the biology as well as clinical behavior of these tumors:

• What is the true incidence of these tumors when diagnosed using molecular diagnostic tests?
• What are the similarities and differences between CCSKs, URCS of infants, and BCOR-CCNB3 UDS?
• Can treatment protocols with demonstrated efficacy in CCSKs be used for the other BCOR-mutated tumors?
• What are the downstream molecular pathways altered in these tumors?
• What is the role of targeted therapies in management of children with these tumors?

As a first step towards designing and implementing rational therapy for these rare groups of tumors, The North American BCOR-mutated Sarcoma Registry was established at Texas Children’s Hospital.

Registry goals

• To enroll all children diagnosed with  BCOR-mutated sarcomas in North America and collect clinical and biological information
• To offer diagnostic molecular testing to help in the accurate diagnosis and classification of these tumors
• To serve as a resource for patients and their families, and treating physicians to ensure optimal treatment of children with these tumors
• To serve as a resource for researchers involved in studying these tumors

How to enroll

If you or your child is diagnosed with one of the tumor types listed here and you are interested in finding more information about this registry, please contact us by emailing raretumors@texaschildrens.org or by calling 832-824-6835.

Registry Personnel

Angshumoy Roy, MD, PhD, Pathologist
Rajkumar Venkatramani, MD, Pediatric oncologist
Priya Mahajan, MD, Pediatric oncologist
Josalind Randall, Research coordinator