Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

82266
89670
88956
in normal tissues.
Useful For: Diagnosing systemic mastocytosis
Interpretation: The test will be interpreted as positive or negative for KIT Asp816Val.
Reference Values:
An interpretive report will be provided indicating the mutation status as positive or negative.
Clinical References: 1. Garcia-Montero A, Jara-Acevedo M, Teodosio C, et al: KIT mutation in
mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a
prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood
2006;108-2366-232 2. Valent P, Akin C, Sperr WR, et al: Diagnosis and treatment of systemic
mastocytosis: state of the art. Br J Haematol 2003;122:695-717 3. Jaffe ES, Harris NL, Stein H, et al:
World Health Organization Classification of Tumours. Pathology and Genetics. Tumours of the
Haematopoietic and Lymphoid Tissues. 2001, pp 291-302
KIT, Immunostain
Reference Values:
This request will be processed as a consultation. An interpretation will be provided.
KIT, Mutation Analysis, Exon 11
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 11 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
mesylate 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 13
Clinical Information: Several tumors can harbor KIT mutations, including gastrointestinal stromal
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