Sorted By Test Name - Mayo Medical Laboratories

F512
84463
PECH
82816
Cancer 2006;42:1093-1103 4. 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 5. Debiec-Rychter M, Dumez H, Judson I, et al: Use of c-KIT/PDGFRA mutational
analysis to predict the clinical response to imatinib in patents 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 6. Robson ME, Glogowski 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 7. 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
PDGFRB/TEL Translocation (5;12) for Chronic Myelomonocytic
Leukemia, FISH
Clinical Information: Platelet-derived growth factor receptor-beta (PDGFRB) produces a tyrosine
kinase involved in cell proliferation. Translocation-ets-leukemia protein (encoded by the gene ETV6) is a
gene transcription protein that is frequently rearranged in leukemias. A 5;12 translocation,
t(5;12)(q33;p13), results in a fusion product (PDGFRB/ETV6) that is seen in approximately 1% to 2% of
patients diagnosed with chronic myelomonocytic leukemia. Patients with this translocation often have
associated hypereosinophilia. Imatinib mesylate (Gleevec) is an inhibitor of tyrosine kinases, including
PDGFRB. Patients with the 5;12 translocation are reportedly responsive to imatinib mesylate; upon
treatment, they usually go into complete remission.
Useful For: Identifying patients with chronic myelomonocytic leukemia and other hematologic
disorders who may be responsive to imatinib mesylate Disease quantification before and after therapy
Interpretation: A neoplastic clone is detected when the percent of cells with an abnormality exceeds
the normal cutoff (0.6%) for PDGFRB/ETV6.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Pardanani A, Reeder T, Porrata LF, et al: Imatinib therapy for
hypereosinophilic syndrome and other eosinophilic disorders. Blood 2003;101:3391-3397 2. Cain JA,
Grisolano JL, Laird AD, et al: Complete remission of TEL-PDGFRB-induced myeloproliferative disease
in mice by receptor tyrosine kinase inhibitor SU11657. Blood 2004;104:561-564
Peach, IgE
Clinical Information: Clinical manifestations of immediate hypersensitivity (allergic) diseases are
caused by the release of proinflammatory mediators (histamine, leukotrienes, and prostaglandins) from
immunoglobulin E (IgE)-sensitized effector cells (mast cells and basophils) when cell-bound IgE
antibodies interact with allergen. In vitro serum testing for IgE antibodies provides an indication of the
immune response to allergen(s) that may be associated with allergic disease. The allergens chosen for
testing often depend upon the age of the patient, history of allergen exposure, season of the year, and
clinical manifestations. In individuals predisposed to develop allergic disease(s), the sequence of
sensitization and clinical manifestations proceed as follows: eczema and respiratory disease (rhinitis and
bronchospasm) in infants and children less than 5 years due to food sensitivity (milk, egg, soy, and wheat
proteins) followed by respiratory disease (rhinitis and asthma) in older children and adults due to
sensitivity to inhalant allergens (dust mite, mold, and pollen inhalants).
Useful For: Testing for IgE antibodies may be useful to establish the diagnosis of an allergic disease
and to define the allergens responsible for eliciting signs and symptoms. Testing also may be useful to
identify allergens which may be responsible for allergic disease and/or anaphylactic episode, to confirm
sensitization to particular allergens prior to beginning immunotherapy, and to investigate the specificity of
allergic reactions to insect venom allergens, drugs, or chemical allergens.
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