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Your search keyword '"Schoumans, J. (Jacqueline)"' showing total 5 results
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5 results on '"Schoumans, J. (Jacqueline)"'

1. Optical genome mapping:a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)

Author

Puiggros, A. (Anna), Campoy, S. R. (Silvia Ramos), Kamaso, J. (Joanna), de la Rosa, M. (Mireia), Salido, M. (Marta), Melero, C. (Carme), Sandrine Bougeon, M. (María), Bougeon, S. (Sandrine), Collado, R. (Rosa), Gimeno, E. (Eva), García-Serra, R. (Rocío), Alonso, S. (Sara), Moro-García, M. A. (Marco Antonio), García-Malo, M. D. (María Dolores), Calvo, X. (Xavier), Arenillas, L. (Leonor), Ferrer, A. (Ana), Mantere, T. (Tuomo), Hoischen, A. (Alexander), Schoumans, J. (Jacqueline), Espinet, B. (Blanca), Puiggros, A. (Anna), Campoy, S. R. (Silvia Ramos), Kamaso, J. (Joanna), de la Rosa, M. (Mireia), Salido, M. (Marta), Melero, C. (Carme), Sandrine Bougeon, M. (María), Bougeon, S. (Sandrine), Collado, R. (Rosa), Gimeno, E. (Eva), García-Serra, R. (Rocío), Alonso, S. (Sara), Moro-García, M. A. (Marco Antonio), García-Malo, M. D. (María Dolores), Calvo, X. (Xavier), Arenillas, L. (Leonor), Ferrer, A. (Ana), Mantere, T. (Tuomo), Hoischen, A. (Alexander), Schoumans, J. (Jacqueline), and Espinet, B. (Blanca)

Abstract

Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis (CMA). Optical genome mapping (OGM), a novel technique based on imaging of long DNA molecules labeled at specific sites, allows the identification of multiple cytogenetic abnormalities in a single test. We aimed to determine whether OGM is a suitable alternative to cytogenomic assessment in CLL, especially focused on genomic complexity. Cytogenomic OGM aberrations from 42 patients were compared with CBA, FISH, and CMA information. Clinical–biological characteristics and time to first treatment (TTFT) were analyzed according to the complexity detected by OGM. Globally, OGM identified 90.3% of the known alterations (279/309). Discordances were mainly found in (peri-)centromeric or telomeric regions or subclonal aberrations (<15–20%). OGM underscored additional abnormalities, providing novel structural information on known aberrations in 55% of patients. Regarding genomic complexity, the number of OGM abnormalities had better accuracy in predicting TTFT than current methods (C-index: 0.696, 0.602, 0.661 by OGM, CBA, and CMA, respectively). A cut-off of ≥10 alterations defined a complex OGM group (C-OGM, n = 12), which included 11/14 patients with ≥5 abnormalities by CBA/CMA and one patient with chromothripsis (Kappa index = 0.778; p < 0.001). Moreover, C-OGM displayed enrichment of TP53 abnormalities (58.3% vs. 3.3%, p < 0.001) and a significantly shorter TTFT (median: 2 vs. 43 months, p = 0.014). OGM is a robust technology for implementation in the routine management of CLL patients, although further studies are required to define standard genomic complexity criteria.

Published
2022

2. European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms: reponse to the comments from the Francophone Group of Hematological Cytogenetics (GFCH)

Author

Rack, K. (Katrina), van den Berg, E. (E.), Haferlach, C. (C.), Beverloo, H.B. (Berna), Costa, D. (D.), Espinet, B. (B.), Foot, N. (N.), Jeffries, S. (S.), Martin, K. (K.), O’Connor, S. (S.), Schoumans, J. (Jacqueline), Talley, P. (P.), Telford, N. (N.), Stioui, S. (S.), Zemanova, Z. (Zuzana), Hastings, R.J. (R. J.), Rack, K. (Katrina), van den Berg, E. (E.), Haferlach, C. (C.), Beverloo, H.B. (Berna), Costa, D. (D.), Espinet, B. (B.), Foot, N. (N.), Jeffries, S. (S.), Martin, K. (K.), O’Connor, S. (S.), Schoumans, J. (Jacqueline), Talley, P. (P.), Telford, N. (N.), Stioui, S. (S.), Zemanova, Z. (Zuzana), and Hastings, R.J. (R. J.)

Published
2020
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3. Guidance for reporting the interpretation of cytogenomic test results in haematological neoplasms

Author

Rack, K. (Katrina), Berg, E. (Eva) van den, Haferlach, C. (Claudia), Beverloo, H.B. (Berna), Espinet, B. (Blanca), Foot, N. (Nicola), Martin, K. (Kate), O'Connor, S. (Sheila), Schoumans, J. (Jacqueline), Talley, P. (Polly), Stioui, S. (Sabine), Zemanova, Z. (Zuzana), Luquet, I. (Isabelle), Hastings, R. (Ros), Rack, K. (Katrina), Berg, E. (Eva) van den, Haferlach, C. (Claudia), Beverloo, H.B. (Berna), Espinet, B. (Blanca), Foot, N. (Nicola), Martin, K. (Kate), O'Connor, S. (Sheila), Schoumans, J. (Jacqueline), Talley, P. (Polly), Stioui, S. (Sabine), Zemanova, Z. (Zuzana), Luquet, I. (Isabelle), and Hastings, R. (Ros)

Abstract

Deep insight on Guidance for reporting the interpretation of cytogenomic test results in haematological neoplasms.

Published
2019
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4. European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

Author

Rack, K.A., Berg, E. (Esther) van den, Haferlach, C., Beverloo, H.B. (Berna), Costa, D. (Dominique) de, Espinet, B., Foot, N., Jeffries, S., Martin, K., O'Connor, S. (Sheila), Schoumans, J. (Jacqueline), Talley, P., Telford, N., Stioui, S., Zemanova, Z. (Zuzana), Hastings, R.J., Rack, K.A., Berg, E. (Esther) van den, Haferlach, C., Beverloo, H.B. (Berna), Costa, D. (Dominique) de, Espinet, B., Foot, N., Jeffries, S., Martin, K., O'Connor, S. (Sheila), Schoumans, J. (Jacqueline), Talley, P., Telford, N., Stioui, S., Zemanova, Z. (Zuzana), and Hastings, R.J.

Abstract

Cytogenomic investigations of haematological neoplasms, including chromosome banding analysis, fluorescence in situ hybridisation (FISH) and microarray analyses have become increasingly important in the clinical management of patients with haematological neoplasms. The widespread implementation of these techniques in genetic diagnostics has highlighted the need for guidance on the essential criteria to follow when providing cytogenomic testing, regardless of choice of methodology. These recommendations provide an updated, practical and easily available document that will assist laboratories in the choice of testing and methodology enabling them to operate within acceptable standards and maintain a quality service.

Published
2019
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5. A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Author

Enervald, E. (Elin), Du, L. (Likun), Visnes, T. (Torkild), Björkman, A. (Andrea), Lindgren, E. (Emma), Wincent, J. (Josephine), Göbel, H. (Hartmut), Colleaux, L. (Laurence), Cormier-Daire, V. (Valerie), Gent, D.C. (Dik) van, Pie, J. (Juan), Puisac, B. (Beatriz), Miranda, N.F.C.C. (Noel) de, Kracker, S. (Sven), Hammarström, L. (Lennart), Villartay, J.P. de, Durandy, A. (Anne), Schoumans, J. (Jacqueline), Ström, L. (Lena), Pan-Hammarström, Q. (Qiang), Enervald, E. (Elin), Du, L. (Likun), Visnes, T. (Torkild), Björkman, A. (Andrea), Lindgren, E. (Emma), Wincent, J. (Josephine), Göbel, H. (Hartmut), Colleaux, L. (Laurence), Cormier-Daire, V. (Valerie), Gent, D.C. (Dik) van, Pie, J. (Juan), Puisac, B. (Beatriz), Miranda, N.F.C.C. (Noel) de, Kracker, S. (Sven), Hammarström, L. (Lennart), Villartay, J.P. de, Durandy, A. (Anne), Schoumans, J. (Jacqueline), Ström, L. (Lena), and Pan-Hammarström, Q. (Qiang)

Abstract

DNA double strand breaks (DSBs) are mainly repaired via homologous recombination (HR) or nonhomologous end joining (NHEJ). These breaks pose severe threats to genome integrity but can also be necessary intermediates of normal cellular processes such as immunoglobulin class switch recombination (CSR). During CSR, DSBs are produced in the G1 phase of the cell cycle and are repaired by the classical NHEJ machinery. By studying B lymphocytes derived from patients with Cornelia de Lange Syndrome, we observed a strong correlation between heterozygous loss-of-function mutations in the gene encoding the cohesin loading protein NIPBL and a shift toward the use of an alternative, microhomology-based end joining during CSR. Furthermore, the early recruitme

Published
2013
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