Pediatric GIST Overview

More about the different types of pediatric GIST - Pediatric GIST | Carney's Triad

Different types of Pediatric GIST

Like adult GIST, pediatric GIST can be further divided into subgroups. The most familiar and perhaps the most common type does not seem to have a distinct name so let’s just call it “Pediatric GIST.” It most commonly affects girls between the ages of about 6 to 18 and almost always starts in the stomach. Sile Bao, age 16, pediatric GIST patient

The second well-known type of GIST affecting young people is called “Carney’s Triad.” It is named after Dr. J. Aidan Carney who first described it in 1977. Patients with Carney’s Triad may have several different types of tumors including GIST, pulmonary chondroma, and/or functioning extra-adrenal paraganglioma. If any two of these tumors are present, a diagnosis of the "triad" can be made, particularly if age and sex factors are supportive.

In 2002, Dr. Carney and Dr. Constantine Stratakis reported on a new syndrome that was similar to, yet distinct, from Carney’s triad. They had found 12 patients in 5 families with two parts of the “triad,” paraganglioma and GIST. Since this condition appeared to be inheritable and the “true Carney’s Triad” did not, Carney and Stratakis concluded that this syndrome was different than Carney’s Triad and called it “Familial Paraganglioma and Gastric Stromal Sarcoma” (GIST is sometimes called “Gastric Stromal Sarcoma”). The patients varied in age from 9 to 46 years old at diagnosis with 9 of the 14 patients under the age of 23.

When looking at multiple medical reports, it appears like there may be one more type of pediatric GIST. The youngest GIST patients of all may be born with GIST and need surgery soon after birth. This type of GIST, called "neonatal or congenital GIST", appears to affect both boys and girls (although girls are more common) and seems to start in the intestines instead of the stomach. We found 6 cases described as GIST in newborns, however there seems to be some doubt about whether or not these are really leiomyosarcomas or GISTs.

Consolidating Resources

GIST is a rare type of cancer. Pediatric GIST is even rarer. A review of 350 GIST cases at Memorial Sloan-Kettering Cancer Center (MSKCC) found 5 cases under age 18 (1.4%) and 10 (2.9%) cases in young adults (18yrs to 29yrs old)1.

Because it is so rare, it is difficult for doctors to develop expertise because few doctors see more than one or two pediatric GIST patients. Doing research on pediatric GIST is also difficult because it is hard for one institution to accumulate enough tissue. Whenever possible, it is recommended to see a doctor with as much pediatric GIST experience as possible.

In cooperation with several leading pediatric and GIST centers, the Life Raft Group is establishing both physical centers of excellence and a virtual center of excellence. In the United States, two institutions are initially participating as physical centers of excellence. Doctors from these same teams and other doctors as needed will also participate in a virtual center of excellence. Patients not able to travel to the physical centers can have their records reviewed by a multidisciplinary team of pediatric GIST experts. These experts will review the case and then meet by teleconference (or video conference) and discuss the case. For further information on how to have a case reviewed by the virtual center, contact the Life Raft Group at 973-837-9092 or at liferaft@liferaftgroup.org.

Memorial Sloan-Kettering Cancer Center
New York, NY
Michael LaQauglia, M.D. Pediatric Surgeon
Cristina Antonescu, M.D., Pathologist and Head of the Pediatric GIST research project as well as the pediatric GIST tumor bank.

Texas Children's Hospital
Houston, TX
Alberto Pappo, M.D. Pediatric Oncologist
Jed Nuchtern, M.D. Pediatric Surgeon

Joining the Life Raft Group

Membership to the Life Raft Group is available to all GIST patients and their families. Membership is free and gives access to the monthly newsletter, a secured listserv and educational material. On the listserv, members can communicate directly with hundreds of other GIST patients (and caregivers), including many pediatric GIST families. The educational material includes pamphlets, the newsletter, this web site and local (where a group exists) and national Life Raft Group meetings. Membership also allows pediatric families and patients to meet each other and occasionally, to get together. Meeting each other and sharing experiences is a very important part of consolidating resources.
To join the Life Raft Group

The Life Raft Group Pediatric GIST Research Project

The Life Raft Group, supported by a generous start-up grant from Novartis, has implemented a multi-pronged GIST research strategy. The research plan includes 10 areas, such as primary and secondary resistance to treatment. It also includes a pediatric GIST research project (Project I pdf 29kb) as well as a pediatric GIST tumor bank (and a separate adult GIST tumor bank).

The pediatric GIST research project is headed by Cristina Antonescu, M.D., from Memorial Sloan-Kettering Cancer Center.


Dr. Antonescu hosts the first pediatric tissue bank at Memorial Sloan-Kettering Cancer Center in New York

Dr. Antonescu is one of the world’s leading authorities in GIST pathology, and her group has played a leadership role in characterizing the various genetic aberrations responsible for GIST. Her work is particularly focused on pediatric GISTs, which are notoriously resistant to imatinib therapy. The important goals of this study - performed by gene expression array profiling - are to identify mechanisms by which KIT is activated in pediatric GISTs, and to understand why these activation mechanisms are not subject to imatinib inhibition. In addition, the project will search for other genes that may cause or contribute to pediatric GIST. The goal is to turn this basic research into effective treatments.

Donating Tissue to Research

All pediatric GIST patients are eligible to participate in the Life Raft Group research initiative. Pediatric GIST tumor tissue from paraffin blocks and frozen tissue are needed for the project. The patient will receive basic mutational results (genotype) and will be helping move pediatric GIST research forward.
Instructions for submitting paraffin tissue

At this time, frozen tissue is only being actively gathered from the institutions participating in the Life Raft Group research project. If surgery is planned at one of these centers, contact the Life Raft Group prior to surgery and we will contact the appropriate person to attempt frozen tissue acquisition.

Hope for the Future

Six years ago GIST was very poorly understood. The basic research that found a molecular target (KIT) and an excellent targeted drug (Gleevec) has sparked tremendous advances in the understanding of GIST. Today adult GIST can be divided into many different groups. Although in its beginning stages, therapy is beginning to be optimized for these different groups. The Life Raft Group research team includes many of the top GIST researchers in the world. This group has led the way; they are doing research that has revolutionized the treatment of GIST and are working to understand and develop more effective therapies for pediatric GIST. Understanding pediatric GIST may provide important clues to help them understand adult GIST as well.

Links

For people ages 15-39 with cancer, seventyk has organized a patients bill of rights. Check them out, and if you're in support, sign the bill.

http://www.seventyk.org/

This pediatric portion of the website is dedicated to the memory of Jonathan Montague.

1. Gastrointestinal Stromal Tumors in Children and Young Adults.
A Clinicopathologic, Molecular, and Genomic Study of 15 Cases and Review of the Literature. J Pediatr Hematol Oncol Volume 27, Number 4, April 2005. Sonam Prakash, MD, Lisa Sarran, MS, Nicholas Socci, PhD, Ronald P. DeMatteo, MD, Jonathan Eisenstat, MD, Alba M. Greco, MD,
Robert G. Maki, MD, PhD,{ Leonard H. Wexler, MD,k Michael P. LaQuaglia, MD, Peter Besmer, PhD, and Cristina R. Antonescu, MD