Background Gastrointestinal stromal tumors (GIST) are very rare in the pediatric population, affecting less than 100 children yearly. The rarity of this tumor has precluded the ability to perform systematic studies and treatment regimens have varied widely from one institution to another. The lack of patients has also led to the reliance of case reports as the bulk of the published literature. In order to alleviate these deficiencies, the Pediatric Oncology Branch of the National Cancer Institute and the Pediatric Endocrinology Unit of the National Institute of Child Health &Human Development have collaborated to initiate the NIH Pediatric and wildtype GIST Clinic. This is a bi-annual clinic that brings children and young adult GIST patients together with some of the leading clinicians and researchers in the field of GIST. We believe that our clinic will prove to be an excellent model on how to study rare diseases. The Clinic Model We have instituted a four-part clinic to help address the needs of patients and allow clinical and laboratory researchers the opportunity to examine patient data and utilize samples for further research. We have brought together some of the leading clinical and laboratory researchers to attend these clinics. The following members make up the Consortium for Pediatric and wildtype GIST Research (CPGR). Cristina Antonescu, Pathology, Memorial Sloan-Kettering Cancer Center. George Demetri, Medical Oncology, Dana-Farber Cancer Institute. Suzanne George, Medical Oncology, Dana-Farber Cancer Institute. Lee Helman, Pediatric Oncology, National Cancer Institute. Katherine Janeway, Pediatric Oncology, Dana-Farber Cancer Institute. Su Young Kim, Pediatric Oncology, National Cancer Institute. Michael LaQuaglia, Pediatric Surgery, Memorial Sloan-Kettering Cancer Center. Margaret von Mehren, Medical Oncology, Fox Chase Cancer Center. Alberto Pappo, Pediatric Oncology, Texas Childrens Hospital. Constantine Stratakis, Pediatric Endocrinology, National Institute of Child Health &Human Development. Jonathan Trent, Medical Oncology, MD Anderson Cancer Center In addition, a host of specialists at the NIH also participate in clinical and research aspects. A list of members of the NIH GIST team who collaborate follows. Ann Berger MD, Pain Management Director. Barbara Santangini LICSW, Clinical Social Worker. Baris Turkbey MD, Radiologist. Demetrio Domingo DDS MS, Dental Clinic Director. Donna Bernstein RN, Research Nurse Specialist. Donna Gregory CTRS MBA, Rehabilitation Medicine Specialist. Heidi Kong MD, Dermatologist. Jennifer Graf MS RD, Clinical Research Dietitian. Joan Sheeron MA RN, Pediatric Clinic Nurse Manager. Lauren Long RN Research Nurse Specialist. Lori Wiener PhD, Pediatric Psychosocial Specialist. Margarita Raygada PhD MSC, Staff Genetic Counselor. Maria Tsokos MD, Pediatric Pathologist. Maya Lodish MD, Pediatric Endocrinology Fellow. Meagan Robb MA, Art Therapist. Scott Miller MD, Complementary and Integrative Medicine Consultant. Peter Choyke MD, Radiologist. Sherri DePollar PCC, Patient Care Coordinator. The clinic opens with registration of patients, followed by a lecture given by one of the CPGR members. This lecture is videotaped and broadcast live over a NIH-based broadcast site for viewing by anyone world-wide. The lecture is then archived to allow anyone to view these lectures at any time. The first-part of the clinic is for CPGR members. In addition, patient advocates from two support groups, LifeRaft Group and GIST Support International, attend these sessions and provide input from the patient perspective. Researchers and clinicians discuss their current research efforts and then identify areas of new potential research. Available resources are identified and then distributed to help aid current research efforts. The second-part of the clinic is limited to CPGR members due to patient confidentiality regulations. Doctors review the medical information that patients have provided prior to the clinic. This gives everyone the opportunity to become familiar with the patient and the care that they have received to date. The third-part of the clinic is a meeting of patients with CPGR physicians. Patients and their families have the opportunity to ask questions about any aspect of their care, which CPGR members answer. Based on post-clinic questionnaires, this was one of the highlights of the clinic for the patients. The fourth-part of the clinic allows patients the opportunity to meet a variety of specialists at the NIH. The physicians range in specialty from Dermatology, Nutrition, Psychosocial Specialists, Pain Management Experts and Geneticists, among others. In addition, they have the opportunity to attend seminars in Exercise and Maintaining an Active Lifestyle, Complementary and Alternative Medicine, and others. Results from 2009 2009 saw the completion of the 2nd and 3rd Pediatric and wildtype GIST clinics. 39 patients have attended to date. Based on the medical information that we collected, we have started issuing some guidelines for management. This includes treatment with tyrosine kinase inhibitors, preferred imaging modality, follow-up schedule, and ancillary studies for potential complications in the future due to treatment side effects. Members of CPGR are spearheading the effort to initiate a national trial on the use of IGF-1R antibody for patients with pediatric or wildtype GIST. We opened a NCI-based website, which is written in lay language and describes the clinic, the background of GIST, research endeavors, and links to CPGR physicians. A pediatric GIST e-mail address also allows people from all over the world a direct and dedicated means of contact. We have initiated efforts to form international sites that will collaborate with the NIH and offer patients all of the benefits of the NIH Pediatric and wildtype GIST clinic in their native countries. Our research efforts have shown that 20% of patients have germline mutations in a certain gene, which we are preparing for publication in the next month. The success of our clinic and the willing of patients to aid in the research effort allowed us to begin collecting pathology samples. Currently, these are tested at the NIH to assess for eligibility into clinical trials. In the future, extra slides and samples will be tested in research laboratories to determine new biological determinants of wildtype GIST. Funding Funding for these clinics has been possible due to generous grants from the Office of Rare Diseases with matching funds from the CCR. Plans for 2010 We are preparing to host the 4th and 5th Pediatric and wildtype GIST clinics at the NIH. The success of previous clinics allows us to maintain the same four-part structure for future clinics. Plans are to include other physicians as members of CPGR, especially those from overseas. Research efforts will be coordinated to minimize duplication of results and to maximize the use of valuable and limited patient samples. Presentations and Papers in 2009 Poster presentation at Connective Tissue Oncologic Society 2008 Annual Meeting. Poster presentation at Connective Tissue Oncologic Society 2009 Annual Meeting. Paper near submission to Journal of Surgical Oncology. Patterns of Recurrence Following Surgical Resection of Pediatric and Wildtype Gastrointestinal Tumors. Paper in preparation for the New England Journal of Medicine. Germline mutations occur in 20% of patients with wildtype GIST.

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National Cancer Institute (NCI)
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Janeway, Katherine A; Kim, Su Young; Lodish, Maya et al. (2011) Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A 108:314-8
Kim, Su Y; Janeway, Katherine; Pappo, Alberto (2010) Pediatric and wild-type gastrointestinal stromal tumor: new therapeutic approaches. Curr Opin Oncol 22:347-50