Articles

The cytogenetic and molecular diagnosis of haematological malignancies: an overview of current techniques

BJH - volume 5, issue 1, march 2014

N. Put MD, PhD, L. Michaux MD, PhD, P. Vandenberghe MD, PhD

Summary

The presence, number and/or type of chromosomal aberrations represent an independent predictor of prognosis in several haematological disorders. Therefore, (cyto)genetic analysis is now routinely performed in many haematological malignancies. Different techniques are available to detect chromosomal abnormalities. Conventional cytogenetic analysis can be performed, and also interphase fluorescent in situ hybridisation is widely used. In addition, multiplex ligation-dependent probe amplification and more recently analysis by means of different array-platforms have been used in research and routine setting. Newly developed techniques, such as next-generation sequencing are only available for research purposes thus far. All these techniques are complementary, and each technique has its own (dis)advantages.

(BELG J HEMATOL 2014;5(1):3–11)

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Cytogenetic and genomic assessment of selected lymphoproliferative disorders

BJH - volume 5, issue 1, march 2014

N. Put MD, PhD, L. Michaux MD, PhD, P. Vandenberghe MD, PhD

Summary

Chronic mature B-cell lymphoproliferative disorders, i.e. B-cell chronic lymphocytic leukaemia and plasma cell dyscrasias such as multiple myeloma, have a variable disease course. Clinical staging systems and several biological parameters have been used to estimate tumour burden and predict prognosis. In addition, cytogenetic aberrations have prognostic significance and are therefore investigated in the routine evaluation of these diseases. In this doctoral study, we evaluated available techniques, which can be applied to detect cytogenetic abnormalities in the routine investigation of chronic lymphocytic leukaemia and multiple myeloma. Next, we characterised cytogenetic entities, in particular translocations involving immunoglobulin genes and the proto-oncogenes BCL2 and MYC and investigated clonal evolution in chronic lymphocytic leukaemia.

(BELG J HEMATOL 2014;5(1):25–30)

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O.8 JAK2 V617F-Negative AND MPL W515K/L-Negative Essential Thrombocythemia: a High Resolution SNP Array Study

BJH - volume 5, issue Abstract Book BHS, january 2014

C. AL Assaf , E. Lierman PhD, T. Devos MD, PhD, C. Graux MD, PhD, J. Billiet MD, J. Finalet Ferreiro , P. Vandenberghe MD, PhD

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P3.03 High-sensitivity multiparameter flow cytometric analysis for evaluation of bone marrow involvement in systemic mastocytosis

BJH - volume 5, issue Abstract Book BHS, january 2014

E. Del Biondo MD, P. Vandenberghe MD, PhD, B. Dewaele , A. Kochuyt , N. Boeckx MD, PhD

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P3.04 Screening JAK2 V617F-negative Essential Thrombocytosis Patients for Mutations in SESN2, DNAJC17, ST13, TOP1MT, and NTRK1

BJH - volume 5, issue Abstract Book BHS, january 2014

C. AL Assaf , E. Lierman PhD, T. Devos MD, PhD, C. Graux MD, PhD, J. Billiet MD, P. Papadopoulos , P. Vandenberghe MD, PhD

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O.1 Exome sequencing identifies mutation of the ribosome in T-ALL

BJH - 2013, issue BHS Abstractbook, january 2013

K. De Keersmaecker PhD, Z.K. Atak , N. Li , C. Vicente , S. Patchett , T. Girardi , V. Gianfelici , E. Geerdens , M. Porcu , I. Lahortiga , R. Luca , J. Yan , G. Hulselmans , E. Clappier , R. Vandepoel , B. Sweron , K. Jacobs PhD, N. Mentens , I. Wlodarska , B. Cauwelier MD, PhD, J. Cloos , J. Soulier , A. Uyttebroeck MD, PhD, C. Bagni , B. Hassan , P. Vandenberghe MD, PhD, A. Johnson , S. Aerts , J. Cools

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P.09 Exome sequencing identifies mutation of CNOT3 in T-cell acute lymphoblastic leukaemia

BJH - 2013, issue BHS Abstractbook, january 2013

C. Vicente , K. De Keersmaecker PhD, Z.K. Atak , J. Yan , N. Li , V. Gianfelici , E. Geerdens , E. Clappier , G. Hulselmans , R. Vande poel , B. Cauwelier MD, PhD, J. Cloos , J. Soulier , A. Uyttebroeck MD, PhD, B. Hassan , P. Vandenberghe MD, PhD, S. Aerts , J. Cools

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