Sorted By Test Name - Mayo Medical Laboratories

88957
88955
dysphagia. Clin Cancer Res 2004;10:1250-1254 2. Li FP, Fletcher JA, Heinrich MC, et al: Familial
gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol
2005;23:2735-2743 3. Corless CL, Fletcher JA, Heinrich MC: Biology of gastrointestinal stromal tumors.
J Clin Oncol 2004;22:3813-3825 4. Debiec-Rychter M, Raf Sciot R, Le Cesne A, et al: KIT mutations and
dose selection for imatinib in patients with advanced gastrointestinal stromal tumors. Eur J Cancer
2006;42:1093-1103 5. Heinrich MC, Corless CL, Demetri GD, et al: Kinase mutations and imatinib
response in patients with metastatic gastrointestinal stromal tumor. J Clin Onc 2003;21:4342-4349 6.
Debiec-Rychter M, Dumez H, Judson I, et al: Use of c-KIT/PDGFRA mutational analysis to predict the
clinical response to imatinib in patients with advanced gastrointestinal stromal tumors entered on phase I
and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 2004;40:689-695
KIT, Mutation Analysis, Exon 17
Clinical Information: Several tumors can harbor KIT mutations, including gastrointestinal stromal
tumors (GIST), mast cell disease, melanoma, seminoma, acute myeloid leukemia, myeloproliferative
neoplasms, and lymphomas. In addition, occasional cases of GIST can also harbor mutations in PDGFRA,
a gene structurally related to KIT. The frequency and type of mutations vary among these tumors and
portent distinct clinical implications. The ordering physician is responsible for the diagnosis and
management of disease and decisions based on the data provided.
Useful For: Diagnosis and management of patients with gastrointestinal stromal tumors or melanomas
Identification of a mutation in exon 17 of the KIT gene
Interpretation: Results are reported as positive, negative, or failed. A negative result does not rule out
the presence of a mutation.
Reference Values:
Negative
Clinical References: 1. Robson ME, Blogowski E, Sommer G, et al: Pleomorphic characteristics of
a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and
dysphagia. Clin Cancer Res 2004;10:1250-1254 2. Li FP, Fletcher JA, Heinrich MC, et al: Familial
gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol
2005;23:2735-2743 3. Corless CL, Fletcher JA, Heinrich MC: Biology of gastrointestinal stromal tumors.
J Clin Oncol 2004;22:3813-3825 4. Debiec-Rychter M, Raf Sciot R, Le Cesne A, et al: KIT mutations and
dose selection for imatinib in patients with advanced gastrointestinal stromal tumors. Eur J Cancer
2006;42:1093-1103 5. Heinrich MC, Corless CL, Demetri GD, et al: Kinase Mutations and imatinib
response in patients with metastatic gastrointestinal stromal tumor. J Clin Onc 2003;21:4342-4349 6.
Debiec-Rychter M, Dumez H, Judson I, et al: Use of c-KIT/PDGFRA mutational analysis to predict the
clinical response to imatinib in patients with advanced gastrointestinal stromal tumors entered on phase I
and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 2004;40:689-695 7.
Schildhaus HU, Cavlar T, Binot E, et al: Inflammatory fibroid polyps harbour mutations in the
platelet-derived growth factor receptor alpha (PDGFRA) gene. J Pathol 2008;216(2):176-182
KIT, Mutation Analysis, Exon 8
Clinical Information: Several tumors can harbor KIT mutations, including gastrointestinal stromal
tumors (GIST), mast cell disease, melanoma, seminoma, acute myeloid leukemia, myeloproliferative
neoplasms, and lymphomas. In addition, occasional cases of GIST can also harbor mutations in PDGFRA,
a gene structurally related to KIT. The frequency and type of mutations vary among these tumors and
portent distinct clinical implications. The ordering physician is responsible for the diagnosis and
management of disease and decisions based on the data provided.
Useful For: Diagnosis and management of patients with gastrointestinal stromal tumors or other
related tumors Identification of a mutation in exon 8 of the KIT gene
Interpretation: Results are reported as positive, negative, or failed. A negative result does not rule out
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