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Gastrointestinal Stromal Tumors

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Ernest C. Borden, MD, Taussig Cancer Institute. Cleveland Clinic Foundation, for assistance in the preparation of this report.

Synonyms of Gastrointestinal Stromal Tumors

  • GIST

Disorder Subdivisions

  • Familial Gastrointestinal Stromal Tumors
  • Pediatric-Like Gastrointestinal Stromal Tumors

General Discussion

Gastrointestinal stromal tumors (GISTs) belong to a group of cancers known as soft tissue sarcomas. The number of new cases in the United States annually has been estimated to be 5,000-6,000. Tumors usually arise from the intestinal tract with the most common site being the stomach, followed by the small intestine, and then the colon/rectum with rare cases arising in the esophagus. There are also tumors that appear to arise in the membranous tissue lining the wall of the stomach (peritoneum) or in a fold of such membranous tissue (the omentum). There are also case reports of tumors arising in the appendix and/or pancreas. These tumors most commonly present with abdominal pain, bleeding or signs of intestinal obstruction. They spread most commonly to sites within the abdominal cavity and to the liver, although there are rare cases of spread to the lungs and bone. Some GISTs are noncancerous (benign) and do not spread (indolent); others are aggressive with extensive local invasion as well as distant metastases. Most cases result from a change (mutation) in one of two genes, KIT or PDGFR, which leads to continued growth and division of tumor cells. There are a few reported cases of families in which a gene mutation is inherited; however, the majority of tumors occur randomly for no apparent reason (sporadically) and not inherited (acquired mutation). Most cases arise in older adults.

Approximately 10-15% of cases of GIST in adults and 85% of cases in children are not associated with mutations in either the KIT or PDGFR genes. These cases are known as wild type GISTs and are sometimes grouped together under the umbrella term pediatric-like GIST. They may be associated with other genes or have no identifiable gene mutation.
Introduction

GISTs were initially believed to be a single entity, but recent research has shown that there are several molecular subtypes with different characteristics including different prognoses, clinical symptoms, and different associated genes. that respond differently to various treatment options. Broadly, GISTs are classified as a soft tissue sarcoma. Sarcomas are malignant tumors that arise from the connective tissue, which connects, supports, and surrounds various structures and organs in the body. Soft tissue includes fat, muscle, nerves, tendons, and blood and lymph vessels.

Gastrointestinal Stromal Tumors Resources

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