2015 ASH Annual Meeting: Testing Resources


ONCOHEME NEXT GENERATION SEQUENCING TEST

Many hematologic neoplasms are characterized by morphologic or phenotypic similarities, but can have characteristic somatic mutations in many genes. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to gene mutation profile. The presence and pattern of gene mutations can provide critical diagnostic, prognostic and sometimes therapeutic information for the managing physicians.

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PLATELET TRANSMISSION ELECTRON MICROSCOPIC STUDY

Platelet transmission electron microscopy (PTEM) has been an essential tool for laboratory diagnosis of various hereditary platelet disorders since it was first used to visualize fibrin-platelet clot formation in 1955. PTEM employs 2 main methods to visualize platelet ultrastructure, whole mount (WM) TEM and thin section (TS) TEM. WM-TEM is considered the gold standard test for diagnosing dense granule deficiencies in Hermansky-Pudlak syndrome, alpha-delta platelet storage pool deficiency, Paris-Trousseus-Jacobsen syndrome, Wiskott-Aldrich syndrome, TAR (thrombocytopenia, absent radii) syndrome, Chediak-Higashi syndrome, and more.

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PLATELET SURFACE GLYCOPROTEIN BY FLOW CYTOMETRY

Platelet flow cytometric analysis is the preferred method to assess hereditary platelet disorders due to quantitative surface glycoprotein (GP) deficiencies. GP expression levels can be measured by using fluorescent-conjugated GP-specific antibodies and their fluorescent intensities can be compared to normal ranges of various glycoproteins.

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MYELOPROLIFERATIVE NEOPLASM (MPN), JAK2 V617F WITH REFLEX TO CALR AND MPL

Myeloproliferative neoplasm is a neoplasm of the hematopoietic stem cells. It is associated with effective hematopoietic proliferation, and the bone marrow cells successfully make it into the peripheral blood, resulting in peripheral blood cytosis. MPN patients usually present with a hypercellular bone marrow and peripheral blood cytosis. Organomegaly is present or absent. Myelofibrosis is common, whereas dysplasia is usually not evident. MPN is further subclassfied on the basis of the dominant cell line involved.

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MYELODYSPLASTIC SYNDROME BY FLOW CYTOMETRY

Myelodysplastic syndromes (MDS) encompass a heterogeneous group of clonal hematopoietic neoplasms characterized by cytopenias due to ineffective hematopoiesis, variable degrees of dysmyelopoietic morphologic features, and increased risks of evolution to acute myeloid leukemia. Per 2008 World Health Organization recommendations, a definitive diagnosis of MDS requires identification of 1 or more of the following findings: clear-cut morphologic features of dysplasia in > or =10% of the cells in 1 or more of the 3 hematopoietic lineages; increased (but <20%) blood or marrow blasts with or without Auer rods; and well-characterized clonal cytogenetic abnormalities.

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B-ALL MONITORING, MRD DETECTION

B-ALL is the most common acute leukemia in children and adolescents, and also occurs in adults. Patients with B-ALL typically present with a high blast count in the peripheral blood, and bone marrow replacement with the disease. The diagnosis of B-ALL is based on a combination of morphologic features showing primarily small blasts with open chromatin and high N:C ratio, and an immunophenotype showing immaturity (CD34 and/or TdT expression) associated with B-cell lineage markers (CD19, CD22, and CD79a). New therapeutic approaches in B-ALL have been increasingly successful. One of the most important predictors of the disease relapse is the ability to detect minimal residual disease (MRD) in the bone marrow specimens following induction phase of the therapy (day 28). Immunophenotyping studies are necessary as morphologic features are not sufficient to detect MRD. The absence of MRD (at 0.01% sensitivity) is an important prognostic indicator in these patients.

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brentwestra

Brent Westra

Brent Westra is a Marketing Segment Manager at Mayo Medical Laboratories. He leads marketing strategies for product management and specialty testing along with new media innovations. Brent has worked at Mayo Clinic since 2011.