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1. A framework for the clinical implementation of optical genome mapping in hematologic malignancies

Author

Levy, Brynn, primary, Kanagal‐Shamanna, Rashmi, additional, Sahajpal, Nikhil S., additional, Neveling, Kornelia, additional, Rack, Katrina, additional, Dewaele, Barbara, additional, Olde Weghuis, Daniel, additional, Stevens‐Kroef, Marian, additional, Puiggros, Anna, additional, Mallo, Mar, additional, Clifford, Benjamin, additional, Mantere, Tuomo, additional, Hoischen, Alexander, additional, Espinet, Blanca, additional, Kolhe, Ravindra, additional, Solé, Francesc, additional, Raca, Gordana, additional, and Smith, Adam C., additional

Published
2024
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2. Genome Mapping Nomenclature.

Author

Moore, Sarah, McGowan-Jordan, Jean, Smith, Adam C., Rack, Katrina, Koehler, Udo, Stevens-Kroef, Marian, Barseghyan, Hayk, Kanagal-Shamanna, Rashmi, and Hastings, Ros

Subjects
GENE mapping, DNA copy number variations, MEDICAL personnel, PLANT gene mapping, GENETIC disorders, ANEUPLOIDY, CHROMOSOME abnormalities
Abstract

Background: Genome Mapping Technologies (optical and electronic) use ultra-high molecular weight DNA to detect structural variation and have application in constitutional genetic disorders, hematological neoplasms, and solid tumors. Genome mapping can detect balanced and unbalanced structural variation, copy number changes, and haplotypes. The technique is analogous to chromosomal microarray analysis, although genome mapping has the added benefit of being able to detect and ascertain the nature of more abnormalities in a single assay than array, karyotyping, or FISH alone. Key Messages: This paper describes a specific nomenclature for genome mapping that can be used by diagnostic and research centers to report their findings accurately. An international nomenclature is essential for patient results to be understood by different healthcare providers as well as for clear communication in publications and consistency in databases. Summary: Genome mapping can detect aneuploidy, balanced and unbalanced structural variation, as well as copy number changes. The Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) recognised there was a need for a specific nomenclature for genome mapping that encompasses the range of abnormalities detected by this technique. This paper explains the general principles of the nomenclature as well as giving specific ISCN examples for the different types of numerical and structural rearrangements. [ABSTRACT FROM AUTHOR]

Published
2024
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4. 16. International working group recommendations for the implementation of optical genome mapping in Hematologic Malignancies

Author

Smith, Adam, primary, Kanagal-Shamanna, Rashmi, additional, Dewaele, Barbara, additional, Rack, Katrina, additional, Hoischen, Alexander, additional, Neveling, Kornelia, additional, Raca, Gordana, additional, Levy, Brynn, additional, Kolhe, Ravindra, additional, Espinet, Blanca, additional, Puiggros, Anna, additional, Sole, Francesc, additional, and Mallo, Mar, additional

Published
2022
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10. Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course

Author

Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène A., Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, Michaux, Lucienne, and on behalf of the BCGHo and the GFCH

Published
2012
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12. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies

Author

Duhoux, Francois P., Ameye, Geneviève, Montano-Almendras, Carmen P., Bahloula, Khadija, Mozziconacci, Marie J., Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Auger, Nathalie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Roche-Lestienne, Catherine, Latinne, Dominique, Libouton, Jeanne M., Demoulin, Jean-Baptiste, and Poirel, Hélène A.

Published
2012
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15. European guidelines for constitutional cytogenomic analysis

Author

Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, Hastings, Ros, Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, and Hastings, Ros

Published
2019

16. European guidelines for constitutional cytogenomic analysis

Author

Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, Hastings, Ros, Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, and Hastings, Ros

Published
2019

17. Guidance for reporting the interpretation of cytogenomic test results in haematological neoplasms

Author

Rack, Katrina, primary, van den Berg, Eva, additional, Haferlach, Claudia, additional, Beverloo, Berna, additional, Espinet, Blanca, additional, Foot, Nicola, additional, Martin, Kate, additional, O'Connor, Sheila, additional, Schoumans, Jacqueline, additional, Talley, Polly, additional, Stioui, Sabine, additional, Zemanova, Zuzana, additional, Luquet, Isabelle, additional, and Hastings, Ros, additional

Published
2019
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21. Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

Author

Genetica Sectie Genoomdiagnostiek, Brain, Hochstenbach, Ron, Slunga-Tallberg, Anna, Devlin, Caroline, Floridia, Giovanna, de Alba, Marta Rodríguez, Bhola, Shama, Rack, Katrina, Hastings, Ros, Genetica Sectie Genoomdiagnostiek, Brain, Hochstenbach, Ron, Slunga-Tallberg, Anna, Devlin, Caroline, Floridia, Giovanna, de Alba, Marta Rodríguez, Bhola, Shama, Rack, Katrina, and Hastings, Ros

Published
2017

22. Guidelines for genomic array analysis in acquired haematological neoplastic disorders

Author

Schoumans, Jacqueline, Suela, Javier, Hastings, Ros, Muehlematter, Dominique, Rack, Katrina, van den Berg, Eva, Beverloo, H. Berna, Stevens-Kroef, Marian, and Clinical Genetics

Subjects
COPY NUMBER ABNORMALITIES, CHRONIC LYMPHOCYTIC-LEUKEMIA, MULTIPLE-MYELOMA, B-CELL PRECURSOR, PROGNOSTIC-SIGNIFICANCE, MYELODYSPLASTIC SYNDROMES, MICROARRAY ANALYSIS, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], IKZF1 DELETION, CHROMOSOME-ABNORMALITIES, ACUTE LYMPHOBLASTIC-LEUKEMIA
Abstract

Item does not contain fulltext Genetic profiling is important for disease evaluation and prediction of prognosis or responsiveness to therapy in neoplasia. Microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, have in recent years been introduced into the diagnostic setting for specific types of haematological malignancies and solid tumours. It can be used as a complementary test or depending on the neoplasia investigated, also as a standalone test. However, comprehensive and readable presentation of frequently identified complex genomic profiles remains challenging. To assist diagnostic laboratories, standardization and minimum criteria for clinical interpretation and reporting of acquired genomic abnormalities detected through arrays in neoplastic disorders are presented. (c) 2016 Wiley Periodicals, Inc.

Published
2016

23. Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders

Author

Ross, Fiona M, Avet-Loiseau, Hervé, Ameye, Geneviève, Gutiérrez, Norma C, Liebisch, Peter, O'Connor, Sheila, Dalva, Klara, Fabris, Sonia, Testi, Adele M, Jarosova, Marie, Hodkinson, Clare, Collin, Anna, Kerndrup, Gitte, Kuglik, Petr, Ladon, Dariusz, Bernasconi, Paolo, Maes, Brigitte, Zemanova, Zuzana, Michalova, Kyra, Michaux, Lucienne, Neben, Kai, Hermansen, N Emil U, Rack, Katrina, Rocci, Alberto, Protheroe, Rebecca, Chiecchio, Laura, Poirel, Hélène, Sonneveld, Pieter, Nyegaard, Mette, Johnsen, Hans E, the European Myeloma Network, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service d'hématologie, and Hematology

Subjects
medicine.medical_specialty, MEDLINE, Bioinformatics, 03 medical and health sciences, Prospective analysis, 0302 clinical medicine, Clinical report, Internal medicine, medicine, Humans, In Situ Hybridization, Fluorescence, Multiple myeloma, 030304 developmental biology, 0303 health sciences, Hematology, medicine.diagnostic_test, business.industry, Network on, medicine.disease, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, %22">Fish , Original Articles and Brief Reports, Multiple Myeloma, business, Fluorescence in situ hybridization
Abstract

The European Myeloma Network has organized two workshops on fluorescence in situ hybridization in multiple myeloma. The first aimed to identify specific indications and consensus technical approaches of current practice. A second workshop followed a quality control exercise in which 21 laboratories analysed diagnostic cases of purified plasma cells for recurrent abnormalities. The summary report was discussed at the EHA Myeloma Scientific Working Group Meeting 2010. During the quality control exercise there was acceptable agreement on more than 1000 tests. The conclusions from the collaboration were that the primary clinical applications for FISH analysis were for newly diagnosed cases of MM or frank relapse cases. A range of technical recommendations included: 1) Material should be part of the first draw of the aspirate; 2) Samples should be sent at suitable times that allow for the lengthy processing; 3) Most importantly PCs must be purified or specifically identified; 4) Positive cut-off levels should be the relatively conservative, 10% for fusion or break-apart probes and 20% for numerical abnormalities; 5) Informative probes should be combined to best effect; 6) In specialist laboratories a single experienced analyst is considered adequate; 7) At least 100 PC should be scored; 8) Essential abnormalities to test for are t(4;14), t(14;16) and 17p13 deletions; 9) Suitable commercial probes are available for clinically relevant abnormalities; 10) The clinical report should be expressed clearly and must state the percentage of PC involved and method used for identification; 11) A retrospective European based FISH data bank linked to clinical data should be generated and 12) Prospective analysis should be centralized for upcoming trials based on the recommendations. EMN aims to build on these recommendations to establish standards for a common European database to define subgroups with prognostic significance. ispartof: Haematologica vol:97 issue:8 pages:1272-1277 ispartof: location:Italy status: published

Published
2012
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24. Tumor-forming plasmacytoid dendritic cells associated with myeloid neoplasms. Report of a peculiar case with histopathologic features masquerading as lupus erythematosus

Author

Dargent, Jean Louis, Henne, Stéphanie, Pranger, Delphine, Balzarini, Piera, Sartenaer, Daniel, Bulliard, Geneviève, Rack, Katrina, and Facchetti, Fabio

Subjects
Male, Chronic myelomonocytic leukemia, Lupus erythematosus, Plasmacytoid dendritic cells, 2708, 2734, Histology, Skin Neoplasms, Plasma Cells, Dendritic Cells, Dermis, Middle Aged, Leukemia, Myeloid, Lupus Erythematosus, Cutaneous, Humans
Abstract

Plasmacytoid dendritic cells (PDC) belong to a subtype of dendritic cells that are normally absent in healthy skin. In some inflammatory diseases of the skin, especially lupus erythematosus (LE), these cells are occasionally recruited in great amounts, which can be used as a helpful clue for diagnosis. Rarely, PDC may also accumulate in the skin of patients with myeloid leukemia, a yet poorly known condition currently called 'tumor-forming PDC associated with myeloid neoplasms'. In this study, we describe a patient with unsuspected chronic myelomonocytic leukemia who developed cutaneous lesions characterized by a dermal infiltrate rich in PDC. Similarly to LE, such neoplastic PDC were accompanied by interface dermatitis-like changes, but displayed an aberrant phenotype and shared the same chromosomal abnormality with the leukemic cells identified in the bone marrow, thus revealing the neoplastic nature of the process. This observation illustrates that tumor-forming PDC associated with myeloid neoplasms may microscopically mimic LE in some patients. Accordingly, a hematologic workup is recommended in any skin lesion featuring excessive numbers of PDC, even if morphological alterations suggestive of interface dermatitis are found.

Published
2015

26. Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Author

Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Labis, Elise, Terré, Christine, Nadal, Nathalie, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Taviaux, Sylvie, Chapiro, Elise, Nguyen Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), Lambert, Frédéric, Vikkula, Miikka, Poirel, Hélène, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, CHU de Liège - Center for Human Genetics, CHU de Nice - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Lille - Center for Human Genetics, CHU de Montpellier - Center for Human Genetics, Groupe Hospitalier Pitié-Salpétrière - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, IPG - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, Institut Paoli-Calmettes - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, Centre Hospitalier de Versailles - Center for Human Genetics, and UCL - SSS/DDUV - Institut de Duve

Subjects
Myeloid, Follicular lymphoma, lcsh:Medicine, Chromosomal translocation, CYTOGENETIC ANALYSIS, TUMOR-SUPPRESSOR GENE, Hematologic Cancers and Related Disorders, Chromosomal Disorders, Chromosome instability, hemic and lymphatic diseases, Molecular Cell Biology, lcsh:Science, In Situ Hybridization, Fluorescence, MYELODYSPLASTIC SYNDROME, Multidisciplinary, medicine.diagnostic_test, Chromosome Biology, NON-HODGKINS-LYMPHOMAS, Chromosomal Deletions and Duplications, Genomics, Hematology, Telomere, DNA-Binding Proteins, medicine.anatomical_structure, Oncology, Chromosomes, Human, Pair 1, Hematologic Neoplasms, Cytogenetic Analysis, Medicine, Research Article, medicine.medical_specialty, Chromosome Structure and Function, Biology, Polymorphism, Single Nucleotide, Cell Line, Cytogenetics, CHROMOSOMAL TRANSLOCATIONS, Complex Karyotype, medicine, Genetics, Cancer Genetics, Humans, Clinical Genetics, Chromosome Aberrations, CHRONIC LYMPHOCYTIC-LEUKEMIA, Breakpoint, lcsh:R, Biology and Life Sciences, Cancers and Neoplasms, Human Genetics, IN-SITU HYBRIDIZATION, medicine.disease, Molecular biology, COPY NUMBER, NEUROBLASTOMA, lcsh:Q, FOLLICULAR LYMPHOMA, Fluorescence in situ hybridization, Transcription Factors
Abstract

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

Published
2011

28. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies

Author

UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Montano Almendras, Carmen Patricia, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO), Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Auger, Nathalie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Roche-Lestienne, Catherine, Latinne, Dominique, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Montano Almendras, Carmen Patricia, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO), Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Auger, Nathalie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Roche-Lestienne, Catherine, Latinne, Dominique, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, and Poirel, Hélène

Abstract

The PRDM16 (1p36) gene is rearranged in acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) with t(1;3)(p36;q21), sharing characteristics with AML and MDS with MECOM (3q26.2) translocations. We used fluorescence in situ hybridization to study 39 haematological malignancies with translocations involving PRDM16 to assess the precise breakpoint on 1p36 and the identity of the partner locus. Reverse-transcription polymerase chain reaction (PCR) was performed in selected cases in order to confirm the partner locus. PRDM16 expression studies were performed on bone marrow samples of patients, normal controls and CD34(+) cells using TaqMan real-time quantitative PCR. PRDM16 was rearranged with the RPN1 (3q21) locus in 30 cases and with other loci in nine cases. The diagnosis was AML or MDS in most cases, except for two cases of lymphoid proliferation. We identified novel translocation partners of PRDM16, including the transcription factors ETV6 and IKZF1. Translocations involving PRDM16 lead to its overexpression irrespective of the consequence of the rearrangement (fusion gene or promoter swap). Survival data suggest that patients with AML/MDS and PRDM16 translocations have a poor prognosis despite a simple karyotype and a median age of 65 years. There seems to be an over-representation of late-onset therapy-related myeloid malignancies.

Published
2012

29. Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course

Author

UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre de génétique médicale UCL, Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène, Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, Michaux, Lucienne, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre de génétique médicale UCL, Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène, Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, and Michaux, Lucienne

Abstract

Translocations involving MYC are rare in chronic lymphocytic leukemia (CLL), and up to now, their prognostic significance remains unclear. We report the characteristics of 21 patients with CLL and nine patients with prolymphocytic leukemia (PLL), diagnosed in multiple centers (n = 13), which showed an MYC translocation demonstrated by fluorescence in situ hybridization. The prevalence was estimated to be <1%. Advanced age and male predominance were observed. Morphological analysis frequently revealed the presence of prolymphocytes. A typical "CLL-immunophenotype" was found in four of nine cases with PLL. Moreover, CD5 and CD23 were frequently expressed in PLL. The latter findings are atypical for PLL and may suggest transformation or progression of an underlying CLL. MYC translocations were frequently observed with concomitant adverse cytogenetic markers, such as del(11q) (n = 8/30) and/or del(17p)/monosomy 17 (n = 7/30). In addition, the presence of unbalanced translocations (n = 24 in 13/30 cases) and complex karyotype (n = 16/30) were frequent in cases with MYC translocations. Altogether, del(17p)/monosomy 17, del(11q), and/or complex karyotype were observed in 22 of 30 patients. Survival outcome was poor: the median time to treatment was only 5 months, and overall survival (OS) from clinical diagnosis and from genetic detection was 71 and 19 months, respectively. In conclusion, CLL/PLL with MYC translocations is a rare entity, which seems to be associated with adverse prognostic features and unfavorable outcome.

Published
2012

30. Recurrent breakpoints in 14q32.13/TCL1A region in mature B-cell neoplasms with villous lymphocytes

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service d'hématologie, Urbankova, Helena, Baens, Mathijs, Michaux, Lucienne, Tousseyn, Thomas, Rack, Katrina, Katrincsakova, Beata, Ferreiro, Julio Finalet, van Loo, Peter, de Kelver, Wim, Dierickx, Daan, Demuynck, Hilde, Delannoy, André, Verschuere, Johan, Jarošová, Marie, de Wolf-Peeters, Chris, Vandenberghe, Peter, Wlodarska, Iwona, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service d'hématologie, Urbankova, Helena, Baens, Mathijs, Michaux, Lucienne, Tousseyn, Thomas, Rack, Katrina, Katrincsakova, Beata, Ferreiro, Julio Finalet, van Loo, Peter, de Kelver, Wim, Dierickx, Daan, Demuynck, Hilde, Delannoy, André, Verschuere, Johan, Jarošová, Marie, de Wolf-Peeters, Chris, Vandenberghe, Peter, and Wlodarska, Iwona

Abstract

The genetic background of mature B-cell neoplasms with villous lymphocytes is poorly understood. We identified a novel breakpoint region at 14q32.13 that was rearranged together with IGH/14q32.33 in four cases of BRAF/V600E-negative leukemia/lymphoma with villous lymphocytes carrying either t(14;14)(q32.13;q32.33) (three patients) or del(14)(q32.13q32.33) (one patient). The 14q32.13 breakpoints were mapped by fluorescence in situ hybridization (FISH) in the region harboring the TCL1A/TCL1B/TCL6 genes, known to be affected by TCRA/D-mediated t(14;14)(q11;q32)/inv(14)(q11q32) occurring in T-cell leukemia/lymphoma. To identify the target of t(14;14)(q32.13; q32.33) and del(14)(q32.13q32.33), quantitative real-time polymerase chain reaction (qRT-PCR) analysis of 25 candidate genes located centromerically and telomerically to the 14q32.13 breakpoint was performed. Any of the analyzed genes was commonly overexpressed in the presented cases. Of note, up-regulated transcription of TCL1A was observed in two cases. In summary, we provide evidence that IGH-mediated chromosomal aberrations affecting the 14q32.13/TCL1A-TCL6 region are recurrent in mature B-cell neoplasms with villous lymphocytes. Despite extensive qRT-PCR studies, molecular consequences of these novel aberrations remain elusive.

Published
2012

31. Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders

Author

UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service d'hématologie, Ross, Fiona M, Avet-Loiseau, Hervé, Ameye, Geneviève, Gutiérrez, Norma C, Liebisch, Peter, O'Connor, Sheila, Dalva, Klara, Fabris, Sonia, Testi, Adele M, Jarosova, Marie, Hodkinson, Clare, Collin, Anna, Kerndrup, Gitte, Kuglik, Petr, Ladon, Dariusz, Bernasconi, Paolo, Maes, Brigitte, Zemanova, Zuzana, Michalova, Kyra, Michaux, Lucienne, Neben, Kai, Hermansen, N Emil U, Rack, Katrina, Rocci, Alberto, Protheroe, Rebecca, Chiecchio, Laura, Poirel, Hélène, Sonneveld, Pieter, Nyegaard, Mette, Johnsen, Hans E, the European Myeloma Network, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service d'hématologie, Ross, Fiona M, Avet-Loiseau, Hervé, Ameye, Geneviève, Gutiérrez, Norma C, Liebisch, Peter, O'Connor, Sheila, Dalva, Klara, Fabris, Sonia, Testi, Adele M, Jarosova, Marie, Hodkinson, Clare, Collin, Anna, Kerndrup, Gitte, Kuglik, Petr, Ladon, Dariusz, Bernasconi, Paolo, Maes, Brigitte, Zemanova, Zuzana, Michalova, Kyra, Michaux, Lucienne, Neben, Kai, Hermansen, N Emil U, Rack, Katrina, Rocci, Alberto, Protheroe, Rebecca, Chiecchio, Laura, Poirel, Hélène, Sonneveld, Pieter, Nyegaard, Mette, Johnsen, Hans E, and the European Myeloma Network

Abstract

The European Myeloma Network has organized two workshops on fluorescence in situ hybridization in multiple myeloma. The first aimed to identify specific indications and consensus technical approaches of current practice. A second workshop followed a quality control exercise in which 21 laboratories analyzed diagnostic cases of purified plasma cells for recurrent abnormalities. The summary report was discussed at the EHA Myeloma Scientific Working Group Meeting 2010. During the quality control exercise, there was acceptable agreement on more than 1,000 tests. The conclusions from the exercise were that the primary clinical applications for FISH analysis were for newly diagnosed cases of MM or frank relapse cases. A range of technical recommendations included: 1) material should be part of the first draw of the aspirate; 2) samples should be sent at suitable times to allow for the lengthy processing procedure; 3) most importantly, PCs must be purified or specifically identified; 4) positive cut-off levels should be relatively conservative: 10% for fusion or break-apart probes, 20% for numerical abnormalities; 5) informative probes should be combined to best effect; 6) in specialist laboratories, a single experienced analyst is considered adequate; 7) at least 100 PC should be scored; 8) essential abnormalities to test for are t(4;14), t(14;16) and 17p13 deletions; 9) suitable commercial probes should be available for clinically relevant abnormalities; 10) the clinical report should be expressed clearly and must state the percentage of PC involved and the method used for identification; 11) a retrospective European based FISH data bank linked to clinical data should be generated; and 12) prospective analysis should be centralized for upcoming trials based on the recommendations made. The European Myeloma Network aims to build on these recommendations to establish standards for a common European data base to define subgroups with prognostic significance.

Published
2012

32. PRDM16 alterations are frequently encountered in secondary acute myeloid leukemias after chemotherapy and/or radiation therapy

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Institut Paoli-Calmettes, Marseille - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, CHU de Liège - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Nice - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, IPG, Gosselies - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, CHU Timone, Marseille - Center for Human Genetics, Hôpital Arnaud de Villeneuve, Montpellier - Center for Human Genetics, Institut Gustave Roussy, Villejuif - Center for Human Genetics, CHU de Lille - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Auger, Nathalie, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, 13th Annual Meeting of the Belgian Society of Medical Oncology, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Institut Paoli-Calmettes, Marseille - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, CHU de Liège - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Nice - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, IPG, Gosselies - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, CHU Timone, Marseille - Center for Human Genetics, Hôpital Arnaud de Villeneuve, Montpellier - Center for Human Genetics, Institut Gustave Roussy, Villejuif - Center for Human Genetics, CHU de Lille - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Auger, Nathalie, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, and 13th Annual Meeting of the Belgian Society of Medical Oncology

Published
2011

33. Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, CHU de Liège - Center for Human Genetics, CHU de Nice - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Lille - Center for Human Genetics, CHU de Montpellier - Center for Human Genetics, Groupe Hospitalier Pitié-Salpétrière - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, IPG - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, Institut Paoli-Calmettes - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, Centre Hospitalier de Versailles - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Labis, Elise, Terré, Christine, Nadal, Nathalie, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Taviaux, Sylvie, Chapiro, Elise, Nguyen Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), Lambert, Frédéric, Vikkula, Miikka, Poirel, Hélène, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, CHU de Liège - Center for Human Genetics, CHU de Nice - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Lille - Center for Human Genetics, CHU de Montpellier - Center for Human Genetics, Groupe Hospitalier Pitié-Salpétrière - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, IPG - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, Institut Paoli-Calmettes - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, Centre Hospitalier de Versailles - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Labis, Elise, Terré, Christine, Nadal, Nathalie, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Taviaux, Sylvie, Chapiro, Elise, Nguyen Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), Lambert, Frédéric, Vikkula, Miikka, and Poirel, Hélène

Abstract

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

Published
2011

34. Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.

Author

UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Nguyen-Khac, Florence, Khac, Florence Nguyen, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, Poirel, Hélène, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Nguyen-Khac, Florence, Khac, Florence Nguyen, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, and Poirel, Hélène

Abstract

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

Published
2011

35. The t(14;20)(q32;q12): a rare cytogenetic change in multiple myeloma associated with poor outcome

Author

UCL - Cliniques universitaires Saint-Luc, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'hématologie, Vekemans, Marie-Christiane, Michaux, Lucienne, Lemmens, Heidi, Delforge, Michel, Doyen, Chantal, Pierre, Pascal, Demuynck, Hilde, Bries, Greet, Lemmens, Jan, Meeus, Peter, Straetmans, Nicole, Bauwens, Deborah, Vidrequin, Sebastien, Rack, Katrina, Vandenberghe, Peter, Wlodarska, Iwona, UCL - Cliniques universitaires Saint-Luc, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'hématologie, Vekemans, Marie-Christiane, Michaux, Lucienne, Lemmens, Heidi, Delforge, Michel, Doyen, Chantal, Pierre, Pascal, Demuynck, Hilde, Bries, Greet, Lemmens, Jan, Meeus, Peter, Straetmans, Nicole, Bauwens, Deborah, Vidrequin, Sebastien, Rack, Katrina, Vandenberghe, Peter, and Wlodarska, Iwona

Published
2010

36. PRDM16 is frequently rearranged with various partner genes in myeloid malignancies with 1p36 alterations

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, KULeuven - Department of Human Genetics, Institut Paoli-Calmettes - Départements d'Oncologie Moléculaire et de BioPathologie, Hôpital Jeanne de Flandre - Unité Inserm U524, CHU de Nice - Service de Génétique, CHU de Liège - Service de Génétique, UZ Gent - Centrum for Medische Genetica, CHU de Toulouse - Service de Génétique, CHU de Montpellier - Service de Génétique, CHU de Saint-Etienne - Service de Génétique, CHU de Nantes - Service de Génétique, CHU de Bordeaux - Service de Génétique, IPG - Service de Génétique, CHU de Dijon - Service de Génétique, Hôpital de la Pitié-Salpêtrière - Service de Génétique, Institut Gustave Roussy - Service de Génétique, CHU Timone - Laboratoire de Cytogénétique Onco-hématologique, Centre Hospitalier de Versailles - Service de Génétique, Centre Hospitalier de Besançon - Service de Génétique, Centre Hospitalier Lyon Sud - Service de Génétique, CHU de Genève - Service de Génétique, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Wlodarska, Iwona, Mozziconacci, Marie-Joëlle, Roche-Lestienne, Catherine, Raynaud, Sophie, Herens, Christian, Speleman, Frank, Dastugue, Nicole, Taviaux, Sylvie, Nadal, Nathalie, Talmant, Pascaline, Lippert, Eric, Rack, Katrina, Mugneret, Francine, Nguyen-Khac, Florence, Auger, Nathalie, Lafage, Marina, Terré, Christine, Collonge-Rame, Marie-Agnès, Tigaud, Isabelle, Cabrol, Christine, Libouton, Jeanne-Marie, Poirel, Hélène, European Human Genetics Conference, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, KULeuven - Department of Human Genetics, Institut Paoli-Calmettes - Départements d'Oncologie Moléculaire et de BioPathologie, Hôpital Jeanne de Flandre - Unité Inserm U524, CHU de Nice - Service de Génétique, CHU de Liège - Service de Génétique, UZ Gent - Centrum for Medische Genetica, CHU de Toulouse - Service de Génétique, CHU de Montpellier - Service de Génétique, CHU de Saint-Etienne - Service de Génétique, CHU de Nantes - Service de Génétique, CHU de Bordeaux - Service de Génétique, IPG - Service de Génétique, CHU de Dijon - Service de Génétique, Hôpital de la Pitié-Salpêtrière - Service de Génétique, Institut Gustave Roussy - Service de Génétique, CHU Timone - Laboratoire de Cytogénétique Onco-hématologique, Centre Hospitalier de Versailles - Service de Génétique, Centre Hospitalier de Besançon - Service de Génétique, Centre Hospitalier Lyon Sud - Service de Génétique, CHU de Genève - Service de Génétique, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Wlodarska, Iwona, Mozziconacci, Marie-Joëlle, Roche-Lestienne, Catherine, Raynaud, Sophie, Herens, Christian, Speleman, Frank, Dastugue, Nicole, Taviaux, Sylvie, Nadal, Nathalie, Talmant, Pascaline, Lippert, Eric, Rack, Katrina, Mugneret, Francine, Nguyen-Khac, Florence, Auger, Nathalie, Lafage, Marina, Terré, Christine, Collonge-Rame, Marie-Agnès, Tigaud, Isabelle, Cabrol, Christine, Libouton, Jeanne-Marie, Poirel, Hélène, and European Human Genetics Conference

Published
2010

37. Improved Detection of Chromosomal Abnormalities in Chronic Lymphocytic Leukemia by Conventional Cytogenetics Using CpG Oligonucleotide and Interleukin-2 Stimulation: A Belgian Multicentric Study

Author

UCL - Cliniques universitaires Saint-Luc, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/MINT - Département de médecine interne, Put, Natalie, Poirel, Hélène, Michaux, Lucienne, Konings, Peter, Rack, Katrina, Jamar, Mauricette, Van Roy, Nadine, Libouton, Jeanne-Marie, Vannuffel, Pascal, Sartenaer, Daniel, Ameye, Geneviève, Speleman, Frank, Herens, Christian, Moreau, Yves, Hagemeijer, Anne, Vandenberghe, Peter, UCL - Cliniques universitaires Saint-Luc, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/MINT - Département de médecine interne, Put, Natalie, Poirel, Hélène, Michaux, Lucienne, Konings, Peter, Rack, Katrina, Jamar, Mauricette, Van Roy, Nadine, Libouton, Jeanne-Marie, Vannuffel, Pascal, Sartenaer, Daniel, Ameye, Geneviève, Speleman, Frank, Herens, Christian, Moreau, Yves, Hagemeijer, Anne, and Vandenberghe, Peter

Abstract

We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic leukemia (CLL) referred for routine analysis either at the time of diagnosis (n = 172) or during disease evolution (n = 45). Parallel cultures of peripheral blood or bone marrow were set up with the addition of either the conventional B-cell mitogen 12-O-tetradecanoyl-phorbol-13-acetate (TPA) or a combination of CpG oligonucleotide (CpG) and interleukin-2 (IL-2). Cytogenetic analyses were performed on both cultures. Clonal abnormalities were identified in 116 cases (53%). In 78 cases (36%), the aberrant clone was detected in both cultures. Among these, the percentages of aberrant metaphases were similar in both conditions in 17 cases, higher in the CpG/IL-2 culture in 43 cases, and higher in the TPA culture in 18 cases. Clonal aberrations were detected in only one culture, either in CpG/IL-2 or TPA in 33 (15%) and 5 (2%) cases, respectively. Taken together, abnormal karyotypes were observed in 51% with CpG/IL-2 and 38% with TPA (P < 0.0001). Application of FISH (n 201) allowed the detection of abnormalities not visible by conventional cytogenetic analysis in 80 cases: del(13q) (n 71), del(11q) (n = 5), +12 (n = 2), del(14q) (n = 1), and del(17p) (n = 1). In conclusion, our results confirm that CpG/IL-2 stimulation increases the detection rate of chromosomal abnormalities in CLL compared with TPA and that further improvement can be obtained by FISH. However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques. (C) 2009 Wiley-Liss, Inc.

Published
2009

38. Improved Detection of Chromosomal Abnormalities in CLL by Conventional Cytogenetics Using CpG Oligonucleotide and Interleukin-2 Stimulation. A Belgian Multicentric Study

Author

UCL - Cliniques universitaires Saint-Luc, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/MINT - Département de médecine interne, Put, Natalie, Poirel, Hélène, Michaux, Lucienne, Rack, Katrina, Van Roy, Nadine, Libouton, Jeanne-Marie, Vannuffel, Pascal, Sartenaer, Daniel, Ameye, Geneviève, Speleman, Frank, Vandenberghe, Peter, UCL - Cliniques universitaires Saint-Luc, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/MINT - Département de médecine interne, Put, Natalie, Poirel, Hélène, Michaux, Lucienne, Rack, Katrina, Van Roy, Nadine, Libouton, Jeanne-Marie, Vannuffel, Pascal, Sartenaer, Daniel, Ameye, Geneviève, Speleman, Frank, and Vandenberghe, Peter

Published
2008

39. Recurrent breakpoints in 14q32.13/TCL1Aregion in mature B-cell neoplasms with villous lymphocytes

Author

Urbankova, Helena, primary, Baens, Mathijs, additional, Michaux, Lucienne, additional, Tousseyn, Thomas, additional, Rack, Katrina, additional, Katrincsakova, Beata, additional, Ferreiro, Julio Finalet, additional, van Loo, Peter, additional, de Kelver, Wim, additional, Dierickx, Daan, additional, Demuynck, Hilde, additional, Delannoy, André, additional, Verschuere, Johan, additional, Jarošová, Marie, additional, de Wolf-Peeters, Chris, additional, Vandenberghe, Peter, additional, and Wlodarska, Iwona, additional

Published
2012
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41. The t(14;20)(q32;q12): a rare cytogenetic change in multiple myeloma associated with poor outcome

Author

Vekemans, Marie-Christiane, primary, Lemmens, Heidi, additional, Delforge, Michel, additional, Doyen, Chantal, additional, Pierre, Pascal, additional, Demuynck, Hilde, additional, Bries, Greet, additional, Lemmens, Jan, additional, Meeus, Peter, additional, Straetmans, Nicole, additional, Bauwens, Deborah, additional, Vidrequin, Sébastien, additional, Rack, Katrina, additional, Vandenberghe, Peter, additional, Wlodarska, Iwona, additional, and Michaux, Lucienne, additional

Published
2010
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42. Improved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin‐2 stimulation: A Belgian multicentric study

Author

Put, Natalie, primary, Konings, Peter, additional, Rack, Katrina, additional, Jamar, Mauricette, additional, Roy, Nadine Van, additional, Libouton, Jeanne‐Marie, additional, Vannuffel, Pascal, additional, Sartenaer, Daniel, additional, Ameye, Geneviève, additional, Speleman, Frank, additional, Herens, Christian, additional, Poirel, Hélène A., additional, Moreau, Yves, additional, Hagemeijer, Anne, additional, Vandenberghe, Peter, additional, and Michaux, Lucienne, additional

Published
2009
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43. Improved Detection of Chromosomal Abnormalities in CLL by Conventional Cytogenetics Using CpG Oligonucleotide and Interleukin-2 Stimulation. A Belgian Multicentric Study

Author

Put, Natalie, primary, Rack, Katrina, primary, Van Roy, Nadine, primary, Libouton, Jeanne-Marie, primary, Vannuffel, Pascal, primary, Sartenaer, Daniel, primary, Ameye, Geneviève, primary, Speleman, Frank, primary, Poirel, Hélène A, primary, Vandenberghe, Peter, primary, and Michaux, Lucienne, primary

Published
2008
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49. Recurrent breakpoints in 14q32.13/ TCL1A region in mature B-cell neoplasms with villous lymphocytes.

Author

Urbankova, Helena, Baens, Mathijs, Michaux, Lucienne, Tousseyn, Thomas, Rack, Katrina, Katrincsakova, Beata, Ferreiro, Julio Finalet, van Loo, Peter, de Kelver, Wim, Dierickx, Daan, Demuynck, Hilde, Delannoy, André, Verschuere, Johan, Jarošová, Marie, de Wolf-Peeters, Chris, Vandenberghe, Peter, and Wlodarska, Iwona

Subjects
HORMONE-dependent tumors, B cell lymphoma, HUMAN chromosome abnormality diagnosis, GENETIC disorder diagnosis, GENETIC transcription regulation, DIAGNOSIS
Abstract

The genetic background of mature B-cell neoplasms with villous lymphocytes is poorly understood. We identified a novel breakpoint region at 14q32.13 that was rearranged together with IGH/14q32.33 in four cases of BRAF/V600E-negative leukemia/lymphoma with villous lymphocytes carrying either t(14;14)(q32.13;q32.33) (three patients) or del(14)(q32.13q32.33) (one patient). The 14q32.13 breakpoints were mapped by fluorescence in situ hybridization (FISH) in the region harboring the TCL1A/ TCL1B/ TCL6 genes, known to be affected by TCRA/ D-mediated t(14;14)(q11;q32)/inv(14)(q11q32) occurring in T-cell leukemia/lymphoma. To identify the target of t(14;14)(q32.13; q32.33) and del(14)(q32.13q32.33), quantitative real-time polymerase chain reaction (qRT-PCR) analysis of 25 candidate genes located centromerically and telomerically to the 14q32.13 breakpoint was performed. Any of the analyzed genes was commonly overexpressed in the presented cases. Of note, up-regulated transcription of TCL1A was observed in two cases. In summary, we provide evidence that IGH-mediated chromosomal aberrations affecting the 14q32.13/ TCL1A- TCL6 region are recurrent in mature B-cell neoplasms with villous lymphocytes. Despite extensive qRT-PCR studies, molecular consequences of these novel aberrations remain elusive. [ABSTRACT FROM AUTHOR]

Published
2012
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