Towards New Treatments for Infant Cancer

Infantile myofibromatosis potential gene mutation targets identified

/ Author:  / Reviewed by: Chris Galloway, M.D.

(RxWiki News) Babies can be born with cancer that developed in the mother’s womb. One such cancer is a disease with a long name: infantile myofibromatosis (IM).

Scientists have found two gene changes that might be targets for treating IM, an inherited condition that causes tumors to form in the skin, bone and soft tissue.

New therapies could save IM patients from a lifetime of surgery to remove multiple tumors that can grow large enough to destroy bone, block the intestines, be disfiguring and even cause death.

"Tell your pediatrician about any unusual bumps on your baby."

John Martignetti, MD, PhD, associate professor of Genetics and Genomic Sciences, Oncological Sciences, and Pediatrics at the Icahn School of Medicine at Mount Sinai, and Hakon Hakonarson, MD, PhD, at the Children's Hospital of Philadelphia, led this 10-year study.

The researchers used the latest technology to perform a complete genetic analysis of blood samples gathered from 32 people from nine different families.

This process uncovered mutations in two genes: PDGFRB and NOTCH3.

“This is an important study evaluating the potential genetic underpinnings of a relatively rare, but likely under-reported and under-diagnosed, condition of newborns and infants," Robert J. Canter, MD, MAS, FACS, associate professor of surgery at the UC Davis School of Medicine, told dailyRx News.

"Infantile myofibromatosis may occur at birth and is the most common cause of fibrous tumors in children younger than age two," he said.

According to Dr. Martignetti, these developments mean that his team can begin "…identifying drug-based treatments to save lives for some and avoiding the negative quality of life impact of extensive and repeated surgery in others."

Two medications currently on the market – Gleevec (imatinib) and Sutent (sunitinib) – target these two genes.

“These findings have important implications for the development of new treatments for this disease as well as for understanding and treating related fibrous tumors, such as desmoid tumors/fibromatosis, which occur in other patient groups,” said Dr. Canter, who was not involved in this study.

A report on this research was published in the American Journal of Human Genetics.

This work was supported by an Institutional Development Award to the Center for Applied Genomics from The Children’s Hospital of Philadelphia, a donation from Adele and Daniel Kubert and the Levitt Family Foundation. No conflicts of interest were reported.

Reviewed by: 
Review Date: 
May 30, 2013
Last Updated:
January 2, 2014