Distinguishing gastrointestinal stromal tumors from their mimics: An update

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Advances in Anatomic Pathology (Impact Factor: 3.1). 06/2007; 14(3):178-88. DOI: 10.1097/PAP.0b013e318050aa66
Source: PubMed

ABSTRACT Since the discovery of activating KIT mutations in gastrointestinal stromal tumors (GISTs) in 1998 and the subsequent demonstration that some malignant GISTs respond to targeted therapy with imatinib, it has become increasingly important for pathologists to correctly diagnose GISTs and separate them from their potential mimics in the gastrointestinal tract and abdominal cavity. Some mesenchymal tumors, such as leiomyomas of the muscularis mucosae, are easily distinguished from GIST on the basis of their anatomic location and morphologic appearance. Others, such as gastrointestinal schwannomas, can significantly overlap with GIST in their gross appearance and morphology and require a panel of immunostains for correct diagnosis. This article will review the most common mimics of GISTs: desmoid tumors, smooth muscle tumors (leiomyomas and leiomyosarcomas), gastrointestinal schwannomas, inflammatory fibroid polyps, and solitary fibrous tumors. Pertinent differences between each of these tumors and GIST in terms of gross appearance, histologic features, and immunophenotype will be emphasized. It is important to separate GISTs from these potential mimics because their treatment and prognosis can differ markedly.

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    ABSTRACT: Gastrointestinal stromal tumor (GIST) is a nonepithelial, mesenchymal tumor first described by Mazur and Clark in 1983. Since then, its molecular biology has been studied in great detail. Special interest in the role of tyrosine kinase in its regulation has been the target by different drug research. Mutation in c-kit exons 9, 11, 13, 17 and PDGFRA mutation in exons 12, 14, 18 are responsible for activation of gene signaling system resulting in uncontrolled phosphorylation and tissue growth. However, 5 to 15% of GISTs does not harbor these mutations, which raises additional questions in another alternate signaling pathway mutation yet to be discovered. Diagnosis of GISTs relies heavily on KIT/CD117 immunohistochemical staining, which can detect most GISTs except for a few 3% to 5% that harbors PDGFRA mutation. Newer staining against PKC theta and DOG-1 genes showed promising results but are not readily available. Clinical manifestation of GISTs is broad and highly dependent on tumor size. Surgery still remains the first-line treatment for GISTs. The advancement of molecular biology has revolutionized the availability of newer drugs, Imatinib and Sunitinib. Together with its advancement is the occurrence of Imatinib/Sunitinib drug resistance. With this, newer monoclonal antibody drugs are being developed and are undergoing clinical trials to hopefully improve survival in patients with GISTs.
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