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Battochio A.,University of Alberta | Mohammed S.,University of Alberta | Winthrop D.,University of Alberta | Lefresne S.,University of Alberta | And 4 more authors.
American Journal of Clinical Pathology | Year: 2010

Mutational analysis of c-KIT or PDGFRA has become an important laboratory assay for patients with gastrointestinal stromal tumors (GISTs) because the results are useful in predicting the responsiveness to imatinib. To assess the diagnostic usefulness of denaturing high-pressure liquid chromatography (DHPLC) in this setting, we performed DHPLC and DNA sequencing to study exons 9, 11, 13, and 17 of c-KIT and exons 12 and 18 of PDGFRA in 54 consecutive cases of GIST collected from a single population. Most (40/54 [74%]) carried c-KIT mutations, and 7 (13%) carried PDGFRA mutations. These results were similar to those described in the literature. It is important to note that DHPLC was found to be highly sensitive, detecting all of the mutations in these 6 exons that were identified by DNA sequencing. Our data suggest that DHPLC is a costeffective, rapid, and sensitive test for screening for mutations of c-KIT and PDGFRA in GISTs. © American Society for Clinical Pathology.

Bigras G.,University of Alberta | Wilson J.,DynaLIFE Dx Diagnostic Laboratory Services | Russell L.,University of Alberta | Johnson G.,DynaLIFE Dx Diagnostic Laboratory Services | And 2 more authors.
Cytopathology | Year: 2013

Objectives: Given the well-known poor reproducibility of cervical cytology diagnosis, especially for atypical squamous cells of undetermined significance (ASC-US) and low-grade squamous intraepithelial lesion (LSIL), this study surveyed reproducibility in the assessment of individual cytomorphological features. Methods: One hundred and fifty cells or groups of cells, with a variety of morphological appearances, including normal cells, high-grade squamous intraepithelial lesion (HSIL), LSIL, ASC-US and ASC cannot exclude HSIL (ASC-H), were precisely marked on 150 different liquid-based cytological preparations. They were analysed by 17 observers who assessed 17 cytological features including nuclear features (chromatin texture, nuclear outline, nuclear shape, etc.), cytoplasmic features (cell shape, cytoplasmic staining, cytoplasmic clearing, etc.) and group characteristics (nuclear polarity, cellular density, etc.). A total of 43350 data scores were collected in a database using a web-based survey. Kendall's W and relative entropy indexes were utilized to compute concordance indexes of respectively ordinal and nominal variables. Results: Nuclear features have significantly lower reproducibility (0.46) compared with other cytological features (0.59). The feature with least agreement is assessment of chromatin texture. A small but significant difference in concordance was found between two subsets of observers with different levels of experience. Conclusion: Most previous studies assessing reproducibility of cytological diagnoses show, at best, moderate reproducibility among observers. This study focused on agreement regarding the presence of constituent morphological features used to recognize dyskaryosis and various grades of squamous intraepithelial lesions. A map of reproducibility indexes is presented that highlights, for daily practice or teaching, the robustness of features used for cytological assessment, recognizing that diagnosis is always based on a combination of features. © 2011 Blackwell Publishing Ltd.

Rodriguez-Capote K.,DynaLIFE Dx Diagnostic Laboratory Services | Rodriguez-Capote K.,University of Alberta | Estey M.P.,DynaLIFE Dx Diagnostic Laboratory Services | Estey M.P.,University of Alberta | And 7 more authors.
Clinical Biochemistry | Year: 2015

Objectives: To report the finding of a novel double heterozygous hemoglobinopathy, the coinheritance of Hb Fontainebleau (α-chain variant) with HbD-Punjab (β-chain variant) discovered upon investigation of unexplained microcytosis in an infant. Design and methods: Hemoglobinopathy investigation was performed by high performance liquid chromatography (HPLC) using the β-thalassemia Short Program on the Bio-Rad Variant IITM followed by gel electrophoresis at alkaline and acid pH (Sebia Hydrasys 2 Electrophoresis System) and molecular diagnostic testing. This study complied with our institutional board ethics requirements. Results: HPLC and electrophoresis suggested a complex α- and β-chain hemoglobinopathy with presumptive identification of the beta Hb variant as Hb D-Punjab. DNA sequencing analysis revealed the presence of a double heterozygous status for Hb Fontainebleau/Hb D-Punjab. Conclusions: In this paper we report the coinheritance of Hb Fontainebleau with Hb D-Punjab. © 2015 The Canadian Society of Clinical Chemists.

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