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1. Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials

Author

Piette, C, Suciu, S, Clappier, E, Bertrand, Y, Drunat, S, Girard, S, Yakouben, K, Plat, G, Dastugue, N, Mazingue, F, Grardel, N, van Roy, N, Uyttebroeck, A, Costa, V, Minckes, O, Sirvent, N, Simon, P, Lutz, P, Ferster, A, Pluchart, C, Poirée, M, Freycon, C, Dresse, M-F, Millot, F, Chantrain, C, van der Werff tenBosch, J, Norga, K, Gilotay, C, Rohrlich, P-S, Benoit, Y, and Cavé, H

Published
2018
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4. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo S. S., Pastor V. B., Goodings C., Voss R. K., Kozyra E. J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O. P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B. D., Smith O., Haas V. D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P. D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R. D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L. M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M. L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M. R., Sauer M. G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M. H., Meisel R., Schulz A., Cario G., Panda P. K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C. M., Wlodarski M. W., Sahoo S.S., Pastor V.B., Goodings C., Voss R.K., Kozyra E.J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O.P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B.D., Smith O., Haas V.D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P.D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R.D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L.M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M.L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M.R., Sauer M.G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M.H., Meisel R., Schulz A., Cario G., Panda P.K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C.M., Wlodarski M.W., and Clinical Genetics

Subjects
Oncology, Male, medicine.medical_specialty, Monosomy, Adolescent, Somatic cell, Medizin, Bone Marrow Cells, Kaplan-Meier Estimate, General Biochemistry, Genetics and Molecular Biology, Germline, Article, Clonal Evolution, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, Child, Germ-Line Mutation, Chromosome 7 (human), Cytopenia, clonal hemopoiesis, business.industry, Myelodysplastic syndromes, Tumor Suppressor Proteins, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, GATA2 Transcription Factor, SAMD9 and SAMD9L mutations, Pediatric Myelodysplastic syndromes, medicine.anatomical_structure, HEK293 Cells, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Myelodysplastic Syndromes, Female, Bone marrow, Clonal Hematopoiesis, Single-Cell Analysis, business
Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome.

Published
2021

5. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.

Published
2021

6. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), 10.1038/s41591-021-01511-6)

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

In the version of this Article initially published, there were errors in Fig. 1. Specifically, in the top right box in Fig. 1a, the text now reading “n = 25” mistakenly read “125” in the original publication. Further, in the four graphs of Fig. 1e, the colored labels “Wild-type,” “SAMD9/9Lmut” and “GATA2mut” were misaligned to the n and P values at their right. These errors have been corrected in the online version of the article.

Published
2021

8. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

Author

Cauwelier, B, Cavé, H, Gervais, C, Lessard, M, Barin, C, Perot, C, Van den Akker, J, Mugneret, F, Charrin, C, Pagès, M P, Grégoire, M-J, Jonveaux, P, Lafage-Pochitaloff, M, Mozzicconacci, M J, Terré, C, Luquet, I, Cornillet-Lefebvre, P, Laurence, B, Plessis, G, Lefebvre, C, Leroux, D, Antoine-Poirel, H, Graux, C, Mauvieux, L, Heimann, P, Chalas, C, Clappier, E, Verhasselt, B, Benoit, Y, Moerloose, B D, Poppe, B, Van Roy, N, Keersmaecker, K D, Cools, J, Sigaux, F, Soulier, J, Hagemeijer, A, Paepe, A D, Dastugue, N, Berger, R, and Speleman, F

Published
2007
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9. The pitfalls and promise of liquid biopsies for diagnosing and treating solid tumors in children: a review

Author

Van Paemel, R., Vlug, R., De Preter, K., Van Roy, N., Speleman, F., Willems, L., Lammens, T., Laureys, G., Schleiermacher, G., Tytgat, G.A.M., Astrahantseff, K., Deubzer, H., and De Wilde, B.

Subjects
Cancer Research
Abstract

Cell-free DNA profiling using patient blood is emerging as a non-invasive complementary technique for cancer genomic characterization. Since these liquid biopsies will soon be integrated into clinical trial protocols for pediatric cancer treatment, clinicians should be informed about potential applications and advantages but also weaknesses and potential pitfalls. Small retrospective studies comparing genetic alterations detected in liquid biopsies with tumor biopsies for pediatric solid tumor types are encouraging. Molecular detection of tumor markers in cell-free DNA could be used for earlier therapy response monitoring and residual disease detection as well as enabling detection of pathognomonic and therapeutically relevant genomic alterations. CONCLUSION: Existing analyses of liquid biopsies from children with solid tumors increasingly suggest a potential relevance for molecular diagnostics, prognostic assessment, and therapeutic decision-making. Gaps remain in the types of tumors studied and value of detection methods applied. Here we review the current stand of liquid biopsy studies for pediatric solid tumors with a dedicated focus on cell-free DNA analysis. There is legitimate hope that integrating fully validated liquid biopsy-based innovations into the standard of care will advance patient monitoring and personalized treatment of children battling solid cancers.

Published
2020

10. Age Dependency of the Prognostic Impact of Tumor Genomics in Localized Resectable MYCN -Nonamplified Neuroblastomas. Report From the SIOPEN Biology Group on the LNESG Trials and a COG Validation Group

Author

Ambros IM, Tonini GP, Pötschger U, Gross N, Mosseri V, Beiske K, Berbegall AP, Bénard J, Bown N, Caron H, Combaret V, Couturier J, Defferrari R, Delattre O, Jeison M, Kogner P, Lunec J, Marques B, Martinsson T, Mazzocco K, Noguera R, Schleiermacher G, Valent A, Van Roy N, Villamon E, Janousek D, Pribill I, Glogova E, Attiyeh EF, Hogarty MD, Monclair TF, Holmes K, Valteau-Couanet D, Castel V, Tweddle DA, Park JR, Cohn S, Ladenstein R, Beck-Popovic M, De Bernardi B, Michon J, Pearson ADJ, and Ambros PF

Subjects
neoplasms
Abstract

For localized, resectable neuroblastoma without MYCN amplification, surgery only is recommended even if incomplete. However, it is not known whether the genomic background of these tumors may influence outcome.

Published
2020

11. Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

Author

Van Damme, K.F.A. (Karel F. A.), Tavernier, S.J. (Simon), Van Roy, N. (Nele), De Leeuw, E. (Elisabeth), Declercq, J. (Jozefien), Bosteels, C. (Cédric), Maes, B. (Bastiaan), De Bruyne, M. (Marieke), Bogaert, D.J.A. (Delfien), Bosteels, V. (Victor), Hoste, L. (Levi), Naesens, L. (Leslie), Maes, P. (Piet), Grifoni, A. (Alba), Weiskopf, D. (Daniela), Sette, A. (Alessandro), Depuydt, P. (Pieter), Van Braeckel, E. (Eva), Haerynck, F. (Filomeen), Lambrecht, B.N.M. (Bart), Van Damme, K.F.A. (Karel F. A.), Tavernier, S.J. (Simon), Van Roy, N. (Nele), De Leeuw, E. (Elisabeth), Declercq, J. (Jozefien), Bosteels, C. (Cédric), Maes, B. (Bastiaan), De Bruyne, M. (Marieke), Bogaert, D.J.A. (Delfien), Bosteels, V. (Victor), Hoste, L. (Levi), Naesens, L. (Leslie), Maes, P. (Piet), Grifoni, A. (Alba), Weiskopf, D. (Daniela), Sette, A. (Alessandro), Depuydt, P. (Pieter), Van Braeckel, E. (Eva), Haerynck, F. (Filomeen), and Lambrecht, B.N.M. (Bart)

Abstract

The disease course of COVID-19 in patients with immunodeficiencies is unclear, as well as the optimal therapeutic strategy. We report a case of a 37-year old male with common variable immunodeficiency disorder and a severe SARS-CoV-2 infection. After administration of convalescent plasma, the patient’s condition improved rapidly. Despite clinical recovery, viral RNA remained detectable up to 60 days after onset of symptoms. We propose that convalescent plasma might be considered as a treatment option in patients with CVID and severe COVID-19. In addition, in patients with immunodeficiencies, a different clinical course is possible, with prolonged viral shedding.

Published
2020
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12. Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

Author

van Damme, KFA, Tavernier, S, van Roy, N, de Leeuw, E, Declercq, J, Bosteels, C, Maes, B, de Bruyne, M, Bogaert, D, Bosteels, V, Hoste, L, Naesens, L, Maes, P, Grifoni, A, Weiskopf, D, Sette, A, Depuydt, P, Van Braeckel, E, Haerynck, F, Lambrecht, Bart, van Damme, KFA, Tavernier, S, van Roy, N, de Leeuw, E, Declercq, J, Bosteels, C, Maes, B, de Bruyne, M, Bogaert, D, Bosteels, V, Hoste, L, Naesens, L, Maes, P, Grifoni, A, Weiskopf, D, Sette, A, Depuydt, P, Van Braeckel, E, Haerynck, F, and Lambrecht, Bart

Published
2020

14. Quality Improvement of Repair Interventions on Built Heritage : Verbeteren van de uitvoeringstechnische kwaliteit van ingrepen bij bouwkundig erfgoed

Author

Van Roy, N, Verstrynge, E, and Van Balen, K

Abstract

The need for the development of a specific quality management approach for built heritage is based on the complexity and specificity of historic buildings. The main aim of the research was therefore the development of a specific quality management approach for built heritage. The concepts that establish the approach were developed based on an understanding of the aim, the conservation principles and the challenges of heritage preservation. They are translated into an approach based on an analysis of existing quality management approaches in other fields. The scientific basis for the approach is acquired based on a thorough analysis of current practice and an exploratory study of two methods for quality improvement: knowledge enhancement and knowledge sharing. By establishing the analysis of current practice at three levels of detail, the obtained results identify a variety of approaches, problems, attitudes and technical issues. The research therefore gave a voice to different stakeholders and covered different types of interventions. The developed quality management approach is a participative approach that is founded on the establishment of continuous care, as well as the enhancement and sharing of knowledge. Its aim is the preservation of cultural significance. This is accomplished through a process of continuous care in which all stakeholders are equally involved. Technical knowledge, skills and knowledge on values and significance are essential for deciding on interventions and implementing them. Conservation quality therefore stems from the merging of three concepts: (1) continuous care, (2) the stakeholders, (3) knowledge. Regarding the management of historic structures, the analysis of maintenance practices in Flanders identifies the absence of a true preventive approach. Discrepancies in the significance of concepts such as maintenance, repair, conservation and renovation complicate the quality of maintenance activities. There is a limited implementation of true preventive actions, such as the cleaning of gutters, and professionals are not always involved for repair interventions. Monumentenwacht proves to be an important support for owners, thanks to their expertise and objective opinion. There is a potential to improve the management of built heritage by implementing the monitoring data into a system of reliability monitoring. The case study research on structural repair interventions demonstrates that professionals often implement a linear problem solving approach that does not include the controls-step of the ISCARSAH approach. The project-based involvement of engineers, sometimes even limited to part of the decision making process, complicates a true continuity in the continuous care for historic structures. The research therefore proposes the implementation of simple forms of structural monitoring by Monumentenwacht, in close collaboration with conservation engineers. The analysis of implemented mortar joint repair interventions individuates that knowledge is important for their correct implementation. However, professionals prefer to tackle the complex decision on a compatible mortar recipe based on their experience. Such attitudes impede a continuous knowledge enhancement on the compatibility of mortar joint repair interventions. Increased documentation of the characteristics of existing and newly implemented materials would facilitate the complex decision making. This requires the sharing of knowledge and experiences between different professionals. Furthermore, the skills, training and motivation of masons proved to be predominant for a correct implementation of mortar joint repair interventions. The quality of these interventions is therefore founded on the training and proudness of the masons. The second part of the dissertation focuses on an investigation into two methods for quality improvement: knowledge enhancement and knowledge sharing. Three exploratory investigations exemplify specific technical challenges that would benefit from knowledge enhancement through continuous care. Such knowledge enhancement could be achieved based on interdisciplinary knowledge sharing of advanced monitoring data. The exploratory study on knowledge sharing between the members of a building team advances the important interrelation between three inter-personal processes: (1) the establishment of trust, (2) the merging of cooperation through a shared understanding, (3) the creation of an on site operational community. status: published

Published
2018

16. Age-dependency of the prognostic impact of tumor genomics in localized resectable MYCN non-amplified neuroblastomas Report from the SIOPEN Biology Group on the LNESG Trials

Author

Ambros, I.M., Tonini, G.P., Gross, N., Mosseri, V., Pötschger, U., Beiske, K., Berbegall, A.P., Bénard, J., Bown, N., Caron, H., Combaret, V., Couturier, J., Defferrari, R., Delattre, O., Jeison, M., Kogner, P., Lunec, J., Marques, B., Martinsson, T., Mazzocco, K., Noguera, R., Schleiermacher, G., Valent, A., Van Roy, N., Villamon, E., Janousek, D., Pribill, I., Glogova, E., Attiyeh, E.F., Hogarty, M.D., Monclair, T., Holmes, K., Valteau-Couanet, D., Pearson ADJ, A.D.J., Castel, V., Tweddle, D.A., Park, J.R., Cohn, S., Ladenstein, R., Beck-Popovic, M., De Bernardi, B., Michon, J., and Ambros, P.F.

Subjects
Neuroblastoma, Tumor Genomics, MYCN, Doenças Genéticas
Abstract

BACKGROUND: Biology based treatment reduction, i.e. surgery alone also in case of not totally resected tumors, was advised in neuroblastoma patients with localized resectable disease without MYCN amplification. However, whether the genomic background of these tumors may influence outcome was unknown and therefore scrutinized in a meta-analysis comprising two prospective therapy studies and a ‘validation’ cohort. PATIENTS AND METHODS: Diagnostic samples were derived from 406 INSS stages 1/2A/2B tumors from three cohorts: LNESGI/II and COG. Genomic data were analyzed in two age groups (cut-off: 18 months) and quality controlled by the SIOPEN Biology Group. RESULTS: In both patient age groups stage 2 tumors led to similarly reduced event-free survival (5y-EFS: 83+3% versus 80+4%), but overall survival was only decreased in patients >18m (5y-OS: 97+1% versus 87+4%; p=0.001). In the latter age subgroup, only tumors with SCA led to relapses, with 11q loss as the strongest marker (5y-EFS: 40+15% versus 89+5%; p18m but not

Published
2018

17. MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences

Author

ĹAbbate, A, primary, Tolomeo, D, additional, Cifola, I, additional, Severgnini, M, additional, Turchiano, A, additional, Augello, B, additional, Squeo, G, additional, D´Addabbo, P, additional, Traversa, D, additional, Daniele, G, additional, Lonoce, A, additional, Pafundi, M, additional, Carella, M, additional, Palumbo, O, additional, Dolnik, A, additional, Muehlematter, D, additional, Schoumans, J, additional, Van Roy, N, additional, De Bellis, G, additional, Martinelli, G, additional, Merla, G, additional, Bullinger, L, additional, Haferlach, C, additional, and Storlazzi, C T, additional

Published
2017
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18. Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials

Author

Piette, C, primary, Suciu, S, additional, Clappier, E, additional, Bertrand, Y, additional, Drunat, S, additional, Girard, S, additional, Yakouben, K, additional, Plat, G, additional, Dastugue, N, additional, Mazingue, F, additional, Grardel, N, additional, van Roy, N, additional, Uyttebroeck, A, additional, Costa, V, additional, Minckes, O, additional, Sirvent, N, additional, Simon, P, additional, Lutz, P, additional, Ferster, A, additional, Pluchart, C, additional, Poirée, M, additional, Freycon, C, additional, Dresse, M-F, additional, Millot, F, additional, Chantrain, C, additional, van der Werff ten Bosch, J, additional, Norga, K, additional, Gilotay, C, additional, Rohrlich, P-S, additional, Benoit, Y, additional, and Cavé, H, additional

Published
2017
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20. LIN28B is over-expressed in specific subtypes of pediatric leukemia and regulates lncRNA H19

Author

Helsmoortel, H. H., primary, De Moerloose, B., additional, Pieters, T., additional, Ghazavi, F., additional, Bresolin, S., additional, Cave, H., additional, de Vries, A., additional, de Haas, V., additional, Flotho, C., additional, Labarque, V., additional, Niemeyer, C., additional, De Paepe, P., additional, Van Roy, N., additional, Stary, J., additional, van den Heuvel-Eibrink, M. M., additional, Benoit, Y., additional, Schulte, J., additional, Goossens, S., additional, Berx, G., additional, Haigh, J. J., additional, Speleman, F., additional, Van Vlierberghe, P., additional, and Lammens, T., additional

Published
2016
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21. ZEB2 drives immature T-cell lymphoblastic leukaemia development via enhanced tumour-initiating potential and IL-7 receptor signalling

Author

Goossens, S, Radaelli, E, Blanchet, O, Durinck, K, Van Der Meulen, J, Peirs, S, Taghon, T, Tremblay, CS, Costa, M, Ghahremani, MF, De Medts, J, Bartunkova, S, Haigh, K, Schwab, C, Farla, N, Pieters, T, Matthijssens, F, Van Roy, N, Best, JA, Deswarte, K, Bogaert, P, Carmichael, C, Rickard, A, Suryani, S, Bracken, LS, Alserihi, R, Canté-Barrett, K, Haenebalcke, L, Clappier, E, Rondou, P, Slowicka, K, Huylebroeck, D, Goldrath, AW, Janzen, V, McCormack, MP, Lock, RB, Curtis, DJ, Harrison, C, Berx, G, Speleman, F, Meijerink, JPP, Soulier, J, Van Vlierberghe, P, Haigh, JJ, Goossens, S, Radaelli, E, Blanchet, O, Durinck, K, Van Der Meulen, J, Peirs, S, Taghon, T, Tremblay, CS, Costa, M, Ghahremani, MF, De Medts, J, Bartunkova, S, Haigh, K, Schwab, C, Farla, N, Pieters, T, Matthijssens, F, Van Roy, N, Best, JA, Deswarte, K, Bogaert, P, Carmichael, C, Rickard, A, Suryani, S, Bracken, LS, Alserihi, R, Canté-Barrett, K, Haenebalcke, L, Clappier, E, Rondou, P, Slowicka, K, Huylebroeck, D, Goldrath, AW, Janzen, V, McCormack, MP, Lock, RB, Curtis, DJ, Harrison, C, Berx, G, Speleman, F, Meijerink, JPP, Soulier, J, Van Vlierberghe, P, and Haigh, JJ

Abstract

Early T-cell precursor leukaemia (ETP-ALL) is a high-risk subtype of human leukaemia that is poorly understood at the molecular level. Here we report translocations targeting the zinc finger E-box-binding transcription factor ZEB2 as a recurrent genetic lesion in immature/ETP-ALL. Using a conditional gain-of-function mouse model, we demonstrate that sustained Zeb2 expression initiates T-cell leukaemia. Moreover, Zeb2-driven mouse leukaemia exhibit some features of the human immature/ETP-ALL gene expression signature, as well as an enhanced leukaemia-initiation potential and activated Janus kinase (JAK)/signal transducers and activators of transcription (STAT) signalling through transcriptional activation of IL7R. This study reveals ZEB2 as an oncogene in the biology of immature/ETP-ALL and paves the way towards pre-clinical studies of novel compounds for the treatment of this aggressive subtype of human T-ALL using our Zeb2-driven mouse model.

Published
2015

22. The stratified significance of a historic facade as a basis for a more durable conservation approach

Author

Van Roy, N. (author), Van Balen, K. (author), Verstrynge, E. (author), Naldini, S. (author), Van Roy, N. (author), Van Balen, K. (author), Verstrynge, E. (author), and Naldini, S. (author)

Abstract

In heritage conservation, a gap is often observed between the theory of conservation as a durable process that aims at the preservation of a historic building and the practice of restoration as a single intervention that aims at a fast and convincing result. This paper describes the proposed approach for the conservation of the main façade of the Shoemakers Chapel (in Dutch: Schoenmakerskapel) in Antwerp (Belgium), a listed monument since 1976. It serves as an example of how to develop a durable and realistic approach for the conservation of a sixteenth century façade. The basis for the conservation approach is the understanding that each intervention should take the stratified significance of the historic façade into account. In this paper, it will be shown how to combine a study of the façade from a technical point of view with an analysis of the façade as a carrier of cultural significance.

Published
2015
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23. Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: A retrospective international study

Author

Inaba, H., Zhou, Y., Abla, O., Adachi, S., Auvrignon, A., Beverloo, H. B., De Bont, E., Chang, T. T., Creutzig, U., Dworzak, M., Elitzur, S., Fynn, A., Forestier, E., Hasle, H., Liang, D. C., Lee, V., Locatelli, Franco, Masetti, R., De Moerloose, B., Reinhardt, D., Rodriguez, L., Van Roy, N., Shen, S., Taga, T., Tomizawa, D., Yeoh, A. E. J., Zimmermann, M., Raimondi, S. C., Locatelli F. (ORCID:0000-0002-7976-3654), Inaba, H., Zhou, Y., Abla, O., Adachi, S., Auvrignon, A., Beverloo, H. B., De Bont, E., Chang, T. T., Creutzig, U., Dworzak, M., Elitzur, S., Fynn, A., Forestier, E., Hasle, H., Liang, D. C., Lee, V., Locatelli, Franco, Masetti, R., De Moerloose, B., Reinhardt, D., Rodriguez, L., Van Roy, N., Shen, S., Taga, T., Tomizawa, D., Yeoh, A. E. J., Zimmermann, M., Raimondi, S. C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Comprehensive clinical studies of patients with acute megakaryoblastic leukemia (AMKL) are lacking. We performed an international retrospective study on 490 patients (age ≤18 years) with non-Down syndrome de novo AMKL diagnosed from 1989 to 2009. Patients with AMKL (median age 1.53 years) comprised 7.8% of pediatric AML. Five-year event-free (EFS) and overall survival (OS) were 43.7% ± 2.7% and 49.0% ± 2.7%, respectively. Patients diagnosed in 2000 to 2009 were treated with higher cytarabine doses and had better EFS (P = .037) and OS (P = .003) than those diagnosed in 1989 to 1999. Transplantation in first remission did not improve survival. Cytogenetic data were available for 372 (75.9%) patients: hypodiploid (n = 18, 4.8%), normal karyotype (n = 49, 13.2%), pseudodiploid (n = 119, 32.0%), 47 to 50 chromosomes (n = 142, 38.2%), and >50 chromosomes (n = 44, 11.8%). Chromosome gain occurred in 195 of 372 (52.4%) patients: +21 (n = 106, 28.5%), +19 (n = 93, 25.0%), +8 (n = 77, 20.7%). Losses occurred in 65 patients (17.5%): -7 (n = 13, 3.5%). Common structural chromosomal aberrations were t(1;22)(p13;q13) (n = 51, 13.7%) and 11q23 rearrangements (n = 38, 10.2%); t(9;11)(p22;q23) occurred in 21 patients. On the basis of frequency and prognosis, AMKL can be classified to 3 risk groups: good risk-7p abnormalities; poor risk-normal karyotypes, -7, 9p abnormalities including t(9;11)(p22;q23)/MLL-MLLT3, -13/13q-, and -15; and intermediate risk-others including t(1;22)(p13;q13)/OTT-MAL (RBM15-MKL1) and 11q23/MLL except t(9;11). Risk-based innovative therapy is needed to improve patient outcomes.

Published
2015

24. Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study). . 105:1940-1948,2011

Author

Schleiermacher, G, Michon, J, Ribeiro, A, Pierron, G, Mosseri, V, Rubie, H, Munzer, C, Bénard, J, Auger, N, Combaret, V, Janoueix Lerosey, I, Pearson, A, Tweddle, Da, Bown, N, Gerrard, M, Wheeler, K, Noguera, R, Villamon, E, Cañete, A, Castel, V, Marques, B, de Lacerda, A, Tonini, Gp, Mazzocco, K, Defferrari, R, de Bernardi, B, DI CATALDO, Andrea, van Roy, N, Brichard, B, Ladenstein, R, Ambros, I, Ambros, P, Beiske, K, Delattre, O, and Couturier, J.

Subjects
neuroblastoma, infants, genomic profile, segmental chromosome alterations, prognosis
Published
2011

25. CD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol

Author

Ghazavi, F., primary, Clappier, E., additional, Lammens, T., additional, Suciu, S., additional, Caye, A., additional, Zegrari, S., additional, Bakkus, M., additional, Grardel, N., additional, Benoit, Y., additional, Bertrand, Y., additional, Minckes, O., additional, Costa, V., additional, Ferster, A., additional, Mazingue, F., additional, Plat, G., additional, Plouvier, E., additional, Poiree, M., additional, Uyttebroeck, A., additional, van der Werff-ten Bosch, J., additional, Yakouben, K., additional, Helsmoortel, H., additional, Meul, M., additional, Van Roy, N., additional, Philippe, J., additional, Speleman, F., additional, Cave, H., additional, Van Vlierberghe, P., additional, and De Moerloose, B., additional

Published
2015
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26. In vitro human embryonic stem cell hematopoiesis mimics MYB-independent yolk sac hematopoiesis

Author

Vanhee, S., primary, De Mulder, K., additional, Van Caeneghem, Y., additional, Verstichel, G., additional, Van Roy, N., additional, Menten, B., additional, Velghe, I., additional, Philippe, J., additional, De Bleser, D., additional, Lambrecht, B. N., additional, Taghon, T., additional, Leclercq, G., additional, Kerre, T., additional, and Vandekerckhove, B., additional

Published
2014
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27. Influence of segmental chromosome abnormalities on survival in children over the age of 12 months with unresectable localised peripheral neuroblastic tumours without MYCN amplification

Author

Defferrari, R, primary, Mazzocco, K, additional, Ambros, I M, additional, Ambros, P F, additional, Bedwell, C, additional, Beiske, K, additional, Bénard, J, additional, Berbegall, A P, additional, Bown, N, additional, Combaret, V, additional, Couturier, J, additional, Erminio, G, additional, Gambini, C, additional, Garaventa, A, additional, Gross, N, additional, Haupt, R, additional, Kohler, J, additional, Jeison, M, additional, Lunec, J, additional, Marques, B, additional, Martinsson, T, additional, Noguera, R, additional, Parodi, S, additional, Schleiermacher, G, additional, Tweddle, D A, additional, Valent, A, additional, Van Roy, N, additional, Vicha, A, additional, Villamon, E, additional, and Tonini, G P, additional

Published
2014
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28. The Notch driven long non-coding RNA repertoire in T-cell acute lymphoblastic leukemia

Author

Durinck, K., primary, Wallaert, A., additional, Van de Walle, I., additional, Van Loocke, W., additional, Volders, P.-J., additional, Vanhauwaert, S., additional, Geerdens, E., additional, Benoit, Y., additional, Van Roy, N., additional, Poppe, B., additional, Soulier, J., additional, Cools, J., additional, Mestdagh, P., additional, Vandesompele, J., additional, Rondou, P., additional, Van Vlierberghe, P., additional, Taghon, T., additional, and Speleman, F., additional

Published
2014
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29. MicroRNA-193b-3p acts as a tumor suppressor by targeting the MYB oncogene in T-cell acute lymphoblastic leukemia

Author

Mets, E, primary, Van der Meulen, J, additional, Van Peer, G, additional, Boice, M, additional, Mestdagh, P, additional, Van de Walle, I, additional, Lammens, T, additional, Goossens, S, additional, De Moerloose, B, additional, Benoit, Y, additional, Van Roy, N, additional, Clappier, E, additional, Poppe, B, additional, Vandesompele, J, additional, Wendel, H-G, additional, Taghon, T, additional, Rondou, P, additional, Soulier, J, additional, Van Vlierberghe, P, additional, and Speleman, F, additional

Published
2014
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30. MicroRNA-128-3p is a novel oncomiR targeting PHF6 in T-cell acute lymphoblastic leukemia

Author

Mets, E., primary, Van Peer, G., additional, Van der Meulen, J., additional, Boice, M., additional, Taghon, T., additional, Goossens, S., additional, Mestdagh, P., additional, Benoit, Y., additional, De Moerloose, B., additional, Van Roy, N., additional, Poppe, B., additional, Vandesompele, J., additional, Wendel, H.-G., additional, Van Vlierberghe, P., additional, Speleman, F., additional, and Rondou, P., additional

Published
2014
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31. Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study).

Author

UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Schleiermacher, G, Michon, J, Ribeiro, A, Pierron, G, Mosseri, V, Rubie, H, Munzer, C, Bénard, J, Auger, N, Combaret, V, Janoueix-Lerosey, I, Pearson, A, Tweddle, D A, Bown, N, Gerrard, M, Wheeler, K, Noguera, R, Villamon, E, Cañete, A, Castel, V, Marques, B, de Lacerda, A, Tonini, G P, Mazzocco, K, Defferrari, R, de Bernardi, B, di Cataldo, A, van Roy, N, Brichard, Bénédicte, Ladenstein, R, Ambros, I, Ambros, P, Beiske, K, Delattre, O, Couturier, J, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Schleiermacher, G, Michon, J, Ribeiro, A, Pierron, G, Mosseri, V, Rubie, H, Munzer, C, Bénard, J, Auger, N, Combaret, V, Janoueix-Lerosey, I, Pearson, A, Tweddle, D A, Bown, N, Gerrard, M, Wheeler, K, Noguera, R, Villamon, E, Cañete, A, Castel, V, Marques, B, de Lacerda, A, Tonini, G P, Mazzocco, K, Defferrari, R, de Bernardi, B, di Cataldo, A, van Roy, N, Brichard, Bénédicte, Ladenstein, R, Ambros, I, Ambros, P, Beiske, K, Delattre, O, and Couturier, J

Abstract

In infants with stage 4s MYCN-non-amplified NB, a SCA genomic profile identifies patients who will require upfront treatment even in the absence of other clinical indication for therapy, whereas in infants with localised unresectable NB, a genomic profile characterised by the absence of SCA identifies patients in whom treatment reduction might be possible. These findings will be implemented in a future international trial.

Published
2011

32. Modulation of Mir-449a Expression Decreases Cell Viability, Increases Apoptosis and Induces Differentiation in Evi1 Deregulated Leukemia Cells

Author

UCL - Cliniques universitaires Saint-Luc, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, De Weer, A., Poirel, Hélène, Poppe, B., Mestdagh, P., De Preter, K., Van Vlierberghe, P., Van Roy, N., Jeison, M., Cauwelier, B., Verhasselt, B., Philippé, Jan, Noens, L., Vandenberghe, Peter, Lambert, F., De Paepe, A., Dastugue, N., Vandesompele, J., Speleman, F., 14th Annual Meeting of the European-Hematology-Association, UCL - Cliniques universitaires Saint-Luc, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, De Weer, A., Poirel, Hélène, Poppe, B., Mestdagh, P., De Preter, K., Van Vlierberghe, P., Van Roy, N., Jeison, M., Cauwelier, B., Verhasselt, B., Philippé, Jan, Noens, L., Vandenberghe, Peter, Lambert, F., De Paepe, A., Dastugue, N., Vandesompele, J., Speleman, F., and 14th Annual Meeting of the European-Hematology-Association

Published
2009

33. Identification and characterization of a novel member of the EXT gene family, EXTL2

Author

Wuyts W, Wim Van Hul, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Pj, Willems, and Other departments

Subjects
musculoskeletal diseases, Base Sequence, Molecular Sequence Data, Chromosome Mapping, Membrane Proteins, Proteins, Sequence Analysis, DNA, Blotting, Northern, N-Acetylglucosaminyltransferases, Polymerase Chain Reaction, Chromosomes, Human, Pair 2, Genetics, Humans, Genes, Tumor Suppressor, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, human activities, Sequence Alignment, Genetics (clinical), Exostoses, Multiple Hereditary, In Situ Hybridization, Fluorescence, Pseudogenes, DNA Primers
Abstract

Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the identification of an EXT-like (EXTL) gene showing a high degree of homology with the EXT genes. We report here a second EXT-like gene (EXTL2) which is homologous to the EXT and EXTL genes. EXTL2 consists of 5 exons encoding an ubiquitously expressed protein of 330 amino acids. In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31.

Published
1998

34. Treatment of human embryos with the TGF inhibitor SB431542 increases epiblast proliferation and permits successful human embryonic stem cell derivation

Author

Van der Jeught, M., primary, Heindryckx, B., additional, O'Leary, T., additional, Duggal, G., additional, Ghimire, S., additional, Lierman, S., additional, Van Roy, N., additional, Chuva de Sousa Lopes, S. M., additional, Deroo, T., additional, Deforce, D., additional, and De Sutter, P., additional

Published
2013
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35. The TCRB-HOXA rearrangement in T-ALL leads to a specific increase of the alternative HOXA10b transcript

Author

UCL, Cauwelier, B., Cave, H., Dastugue, N., Heimann, P., Antoine-Poirel, Helene, Verhasselt, B., Benoit, Y., De Moerloose, B., Van Roy, N., Hagemeijer, Anne, De Paepe, A., Speleman, F., UCL, Cauwelier, B., Cave, H., Dastugue, N., Heimann, P., Antoine-Poirel, Helene, Verhasselt, B., Benoit, Y., De Moerloose, B., Van Roy, N., Hagemeijer, Anne, De Paepe, A., and Speleman, F.

Published
2006

36. Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

Author

Vandesompele, J, Baudis, Michael; https://orcid.org/0000-0002-9903-4248, De Preter, K, Van Roy, N, Ambros, P, Bown, N, Brinkschmidt, C, Christiansen, H, Combaret, V, Lastowska, M, Nicholson, J, O'Meara, A, Plantaz, D, Stallings, R, Brichard, B, Van den Broecke, C, De Bie, S, De Paepe, A, Laureys, G, Speleman, F, Vandesompele, J, Baudis, Michael; https://orcid.org/0000-0002-9903-4248, De Preter, K, Van Roy, N, Ambros, P, Bown, N, Brinkschmidt, C, Christiansen, H, Combaret, V, Lastowska, M, Nicholson, J, O'Meara, A, Plantaz, D, Stallings, R, Brichard, B, Van den Broecke, C, De Bie, S, De Paepe, A, Laureys, G, and Speleman, F

Abstract

PURPOSE: Neuroblastoma is a genetically heterogeneous pediatric tumor with a remarkably variable clinical behavior ranging from widely disseminated disease to spontaneous regression. In this study, we aimed for comprehensive genetic subgroup discovery and assessment of independent prognostic markers based on genome-wide aberrations detected by comparative genomic hybridization (CGH). MATERIALS AND METHODS: Published CGH data from 231 primary untreated neuroblastomas were converted to a digitized format suitable for global data mining, subgroup discovery, and multivariate survival analyses. RESULTS: In contrast to previous reports, which included only a few genetic parameters, we present here for the first time a strategy that allows unbiased evaluation of all genetic imbalances detected by CGH. The presented approach firmly established the existence of three different clinicogenetic subgroups and indicated that chromosome 17 status and tumor stage were the only independent significant predictors for patient outcome. Important new findings were: (1) a normal chromosome 17 status as a delineator of a subgroup of presumed favorable-stage tumors with highly increased risk; (2) the recognition of a survivor signature conferring 100% 5-year survival for stage 1, 2, and 4S tumors presenting with whole chromosome 17 gain; and (3) the identification of 3p deletion as a hallmark of older age at diagnosis. CONCLUSION: We propose a new regression model for improved patient outcome prediction, incorporating tumor stage, chromosome 17, and amplification/deletion status. These findings may prove highly valuable with respect to more reliable risk assessment, evaluation of clinical results, and optimization of current treatment protocols.

Published
2005

37. Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study)

Author

Schleiermacher, G, primary, Michon, J, additional, Ribeiro, A, additional, Pierron, G, additional, Mosseri, V, additional, Rubie, H, additional, Munzer, C, additional, Bénard, J, additional, Auger, N, additional, Combaret, V, additional, Janoueix-Lerosey, I, additional, Pearson, A, additional, Tweddle, D A, additional, Bown, N, additional, Gerrard, M, additional, Wheeler, K, additional, Noguera, R, additional, Villamon, E, additional, Cañete, A, additional, Castel, V, additional, Marques, B, additional, de Lacerda, A, additional, Tonini, G P, additional, Mazzocco, K, additional, Defferrari, R, additional, de Bernardi, B, additional, di Cataldo, A, additional, van Roy, N, additional, Brichard, B, additional, Ladenstein, R, additional, Ambros, I, additional, Ambros, P, additional, Beiske, K, additional, Delattre, O, additional, and Couturier, J, additional

Published
2011
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38. MYCN/c-MYC-induced microRNAs repress coding gene networks associated with poor outcome in MYCN/c-MYC-activated tumors

Author

Mestdagh, P, primary, Fredlund, E, additional, Pattyn, F, additional, Schulte, J H, additional, Muth, D, additional, Vermeulen, J, additional, Kumps, C, additional, Schlierf, S, additional, De Preter, K, additional, Van Roy, N, additional, Noguera, R, additional, Laureys, G, additional, Schramm, A, additional, Eggert, A, additional, Westermann, F, additional, Speleman, F, additional, and Vandesompele, J, additional

Published
2009
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40. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

Author

Cauwelier, B, primary, Cavé, H, additional, Gervais, C, additional, Lessard, M, additional, Barin, C, additional, Perot, C, additional, Van den Akker, J, additional, Mugneret, F, additional, Charrin, C, additional, Pagès, M P, additional, Grégoire, M-J, additional, Jonveaux, P, additional, Lafage-Pochitaloff, M, additional, Mozzicconacci, M J, additional, Terré, C, additional, Luquet, I, additional, Cornillet-Lefebvre, P, additional, Laurence, B, additional, Plessis, G, additional, Lefebvre, C, additional, Leroux, D, additional, Antoine-Poirel, H, additional, Graux, C, additional, Mauvieux, L, additional, Heimann, P, additional, Chalas, C, additional, Clappier, E, additional, Verhasselt, B, additional, Benoit, Y, additional, Moerloose, B D, additional, Poppe, B, additional, Van Roy, N, additional, Keersmaecker, K D, additional, Cools, J, additional, Sigaux, F, additional, Soulier, J, additional, Hagemeijer, A, additional, Paepe, A D, additional, Dastugue, N, additional, Berger, R, additional, and Speleman, F, additional

Published
2006
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41. P66: Identification of genes involved in T-cell oncogenesis through FISH screening of TCR rearrangements in T-ALL

Author

Van Roy, N, primary, Cauwelier, B, additional, Speleman, F, additional, Dastugue, N, additional, Cools, J, additional, Verhasselt, B, additional, Poppe, B, additional, Vandesompele, J, additional, Boogaerts, M, additional, De Moerloose, B, additional, Benoit, Y, additional, Selleslag, D, additional, Billiet, J, additional, Huguet, F, additional, Vandenberghe, P, additional, De Paepe, A, additional, Marynen, P, additional, and Hagemeijer, A, additional

Published
2005
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42. Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.

Author

Courtens, Winnie, Petersen, Merete, Noël, Jean Christophe, Flament Durand, Jacqueline, Van Regemorter, Nicole, Delneste, Danielle, Cochaux, Pascale, Verschraegen-Spae, M, Van Roy, N, Speleman, Frank, Courtens, Winnie, Petersen, Merete, Noël, Jean Christophe, Flament Durand, Jacqueline, Van Regemorter, Nicole, Delneste, Danielle, Cochaux, Pascale, Verschraegen-Spae, M, Van Roy, N, and Speleman, Frank

Abstract

Foetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,-21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation t(1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centromere down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21., Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review, info:eu-repo/semantics/published

Published
1994

46. Mutation analysis of P73 and TP53 in Merkel cell carcinoma.

Author

Van Gele, M, Kaghad, M, Leonard, J H, Van Roy, N, Naeyaert, J M, Geerts, M L, Van Belle, S, Cocquyt, V, Bridge, J, Sciot, R, De Wolf-Peeters, C, De Paepe, A, Caput, D, and Speleman, F

Abstract

The p73 gene has been mapped to 1p36.33, a region which is frequently deleted in a wide variety of neoplasms including tumours of neuroectodermal origin. The p73 protein shows structural and functional homology to p53. For these reasons, p73 was considered as a positional and functional candidate tumour suppressor gene. Thus far, mutation analysis has provided no evidence for involvement of p73 in oligodendrogliomas, lung carcinoma, oesophageal carcinoma, prostatic carcinoma and hepatocellular carcinoma. In neuroblastoma, two mutations have been observed in a series of 140 tumours. In view of the occurrence of 1p deletions in Merkel cell carcinoma (MCC) and the location of p73 we decided to search for mutations in the p73 gene in five MCC cell lines and ten MCC tumours to test potential tumour suppressor function for this gene in MCC. In view of the possible complementary functions of p73 and TP53 we also examined the status of the TP53 gene. Sequence analysis of the entire coding region of the p73 gene revealed previously reported polymorphisms in four MCCs. In one MCC tumour, a mis-sense mutation located in the NH2-terminal transactivation region of the p73 gene was found. These results show that p73, analogous to neuroblastoma, is infrequently mutated in MCC. This is also the first report in which the role of TP53 in MCC has been investigated by sequencing the entire coding region of TP53. TP53 mis-sense mutations and one non-sense mutation were detected in three of 15 examined MCCs, suggesting that TP53 mutations may play a role in the pathogenesis or progression of a subset of MCCs. Moreover, typical UVB induced C to T mutations were found in one MCC cell line thus providing further evidence for sun-exposure in the aetiology of this rare skin cancer. [ABSTRACT FROM AUTHOR]

Published
2000
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47. Recurrent 1;17 translocations in human neuroblastoma reveal nonhomologous mitotic recombination during the S/G2 phase as a novel mechanism for loss of heterozygosity

Author

Caron H, van Sluis P, van Roy N, de Kraker J, Speleman F, Pa, Voûte, Westerveld A, Slater R, Rogier Versteeg, and Other departments

Subjects
G2 Phase, Heterozygote, Mitosis, Translocation, Genetic, S Phase, Blotting, Southern, Neuroblastoma, Chromosomes, Human, Pair 1, Karyotyping, Tumor Cells, Cultured, Humans, Genes, Tumor Suppressor, neoplasms, Alleles, Gene Deletion, In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 17, Research Article
Abstract

Neuroblastomas often show loss of heterozygosity of the chromosomal region 1p36 (LOH 1p), probably reflecting loss of a tumor-suppressor gene. Here we describe three neuroblastoma tumors and two cell lines in which LOH 1p results from an unbalanced translocation between the p arm of chromosome 1 and the q arm of chromosome 17. Southern blot and cytogenetic analyses show that in all cases the chromosome 17 homologue from which the 1;17 translocation was derived is still present and intact. This suggests a model in which a translocation between the short arm of chromosome 1 and the long arm of chromosome 17 takes place in the S/G2 phase of the cell cycle and results in LOH 1p. Nonhomologous mitotic recombination in the S/G2 phase is a novel mechanism of LOH.

48. Demonstration of microchimerism in pregnant sows and effects of congenital PRRSV infection

Author

Karniychuk Uladzimir U, Van Breedam Wander, Van Roy Nadine, Rogel-Gaillard Claire, and Nauwynck Hans J

Subjects
Veterinary medicine, SF600-1100
Abstract

Abstract The presence of foreign cells within the tissue/circulation of an individual is described as microchimerism. The main purpose of the present investigation was to study if microchimerism occurs in healthy sows/fetuses and if porcine reproductive and respiratory syndrome virus (PRRSV) infection influences this phenomenon. Six dams were inoculated intranasally with PRRSV and three non-inoculated dams served as controls. Male DNA was detected in female fetal sera of all dams via PCR. Male DNA was also detected in the maternal circulation. Sex-typing FISH showed the presence of male cells in the female fetal organs and vice versa. PRRSV infection did not influence microchimerism, but might misuse maternal and sibling microchimeric cells to enter fetuses.

Published
2012
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49. Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma

Author

Del-Favero Jurgen, Goossens Dirk, Heyrman Lien, Van Roy Nadine, Kumps Candy, Noguera Rosa, Vandesompele Jo, Speleman Frank, and De Preter Katleen

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Cancer genomes display characteristic patterns of chromosomal imbalances, often with diagnostic and prognostic relevance. Therefore assays for genome-wide copy number screening and simultaneous detection of copy number alterations in specific chromosomal regions are of increasing importance in the diagnostic work-up of tumors. Results We tested the performance of Multiplex Amplicon Quantification, a newly developed low-cost, closed-tube and high-throughput PCR-based technique for detection of copy number alterations in regions with prognostic relevance for neuroblastoma. Comparison with array CGH and the established Multiplex Ligation-dependent Probe Amplification method on 52 neuroblastoma tumors showed that Multiplex Amplicon Quantification can reliably detect the important genomic aberrations. Conclusion Multiplex Amplicon Quantification is a low-cost and high-throughput PCR-based technique that can reliably detect copy number alterations in regions with prognostic relevance for neuroblastoma.

Published
2010
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50. Epidermal Growth Factor Receptor and K-RAS status in two cohorts of squamous cell carcinomas

Author

Van Laethem Jean-Luc, Baert Filip, Dorpe Jo Van, Bols Alain, Demetter Pieter, Van Roy Nadine, Deron Philippe, Van Damme Nancy, Speleman Franki, Pauwels Patrick, and Peeters Marc

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background With the availability of effective anti-EGFR therapies for various solid malignancies, such as non-cell small lung cancer, colorectal cancer and squamous cell carcinoma of the head and neck, the knowledge of EGFR and K-RAS status becomes clinically important. The aim of this study was to analyse EGFR expression, EGFR gene copy number and EGFR and K-RAS mutations in two cohorts of squamous cell carcinomas, specifically anal canal and tonsil carcinomas. Methods Formalin fixed, paraffin-embedded tissues from anal and tonsil carcinoma were used. EGFR protein expression and EGFR gene copy number were analysed by means of immunohistochemistry and fluorescence in situ hybridisation. The somatic status of the EGFR gene was investigated by PCR using primers specific for exons 18 through 21. For the K-RAS gene, PCR was performed using exon 2 specific primers. Results EGFR immunoreactivity was present in 36/43 (83.7%) of anal canal and in 20/24 (83.3%) of tonsil squamous cell carcinomas. EGFR amplification was absent in anal canal tumours (0/23), but could be identified in 4 of 24 tonsil tumours. From 38 anal canal specimens, 26 specimens were successfully analysed for exon 18, 30 for exon 19, 34 for exon 20 and 30 for exon 21. No EGFR mutations were found in the investigated samples. Thirty samples were sequenced for K-RAS exon 2 and no mutation was identified. From 24 tonsil specimens, 22 were successfully analysed for exon 18 and all 24 specimens for exon 19, 20 and 21. No EGFR mutations were found. Twenty-two samples were sequenced for K-RAS exon 2 and one mutation c.53C > A was identified. Conclusion EGFR mutations were absent from squamous cell carcinoma of the anus and tonsils, but EGFR protein expression was detected in the majority of the cases. EGFR amplification was seen in tonsil but not in anal canal carcinomas. In our investigated panel, only one mutation in the K-RAS gene of a tonsil squamous cell carcinoma was identified. This indicates that EGFR and K-RAS mutation analysis is not useful as a screening test for sensitivity to anti-EGFR therapy in anal canal and tonsil squamous cell carcinoma.

Published
2010
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