22 results on '"Michaux, L."'
Search Results
2. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11
- Author
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Lafage-Pochitaloff, M., Gerby, B., Baccini, V., Largeaud, L., Fregona, V., Prade, N., Juvin, P.Y., Jamrog, L.A., Bories, P., Hébrard, S., Lagarde, S., Mansat-De Mas, V., Dovey, O.M., Yusa, K., Vassiliou, G.S., Jansen, J.H., Tekath, T., Rombaut, D., Ameye, G., Barin, C., Bidet, A., Boudjarane, J., Collonge-Rame, M.A., Gervais, C., Ittel, A., Lefebvre, C., Luquet, I., Michaux, L., Nadal, N., Antoine-Poirel, H., Radford-Weiss, I., Ribourtout, B., Richebourg, S., Struski, S., Terré, C., Tigaud, I., Penther, D., Eclache, V., Fontenay, M., Broccardo, C., Delabesse, E., Lafage-Pochitaloff, M., Gerby, B., Baccini, V., Largeaud, L., Fregona, V., Prade, N., Juvin, P.Y., Jamrog, L.A., Bories, P., Hébrard, S., Lagarde, S., Mansat-De Mas, V., Dovey, O.M., Yusa, K., Vassiliou, G.S., Jansen, J.H., Tekath, T., Rombaut, D., Ameye, G., Barin, C., Bidet, A., Boudjarane, J., Collonge-Rame, M.A., Gervais, C., Ittel, A., Lefebvre, C., Luquet, I., Michaux, L., Nadal, N., Antoine-Poirel, H., Radford-Weiss, I., Ribourtout, B., Richebourg, S., Struski, S., Terré, C., Tigaud, I., Penther, D., Eclache, V., Fontenay, M., Broccardo, C., and Delabesse, E.
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Item does not contain fulltext
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- 2022
3. The chromosomal translocation t(1;6)(p35.3;p25.2), recurrent in chronic lymphocytic leukaemia, leads to RCC1::IRF4 fusion.
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Jayne S, López C, Put N, Nagel I, Lierman E, Penas EMM, Michaux L, Ahearne MJ, Walter HS, Bens S, Drewes C, Szczepanowski M, Schlesner M, Rosenstiel P, Wlodarska I, Siebert R, and Dyer MJS
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- Humans, Male, Female, Middle Aged, Aged, Chromosomes, Human, Pair 1 genetics, Oncogene Proteins, Fusion genetics, Nuclear Proteins genetics, Guanine Nucleotide Exchange Factors genetics, Cell Cycle Proteins genetics, Translocation, Genetic, Leukemia, Lymphocytic, Chronic, B-Cell genetics, Interferon Regulatory Factors genetics, Chromosomes, Human, Pair 6 genetics
- Abstract
The chromosomal translocation t(1;6)(p35.3;p25.2) is a rare but recurrent aberration in chronic lymphocytic leukaemia (CLL). We report molecular characterization of 10 cases and show that this translocation juxtaposes interferon regulatory factor 4 (IRF4) on 6p25 with regulator of chromosome condensation 1 (RCC1) on 1p35. The breakpoints fell within the 5' untranslated regions of both genes, resulting in RCC1::IRF4 fusion transcripts without alterations of the protein-coding sequences. Levels of expression of both RCC1 and IRF4 proteins were not obviously deregulated. The cases showed other mutations typical of CLL and we confirm previously reported skewing towards the IGHV-unmutated subtype. RCC1::IRF4 fusion characterizes a rare subset of CLL., (© 2024 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)
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- 2024
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4. Shallow whole-genome sequencing of bone marrow aspirates in myelodysplastic neoplasms: A retrospective comparison with cytogenetics.
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Rengifo LY, Smits S, Boeckx N, Michaux L, Vandenberghe P, and Dewaele B
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- Humans, Bone Marrow, Retrospective Studies, Cytogenetic Analysis methods, Whole Genome Sequencing, Neoplasms, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes diagnosis
- Abstract
Copy number alterations (CNA) are powerful prognostic markers in myelodysplastic neoplasms (MDS) and are routinely analyzed by conventional cytogenetic analysis (CCA) on bone marrow (BM). Although CCA is still the gold standard, it requires extensive hands-on time and highly trained staff for the analysis, making it a laborious technique. To reduce turn-around-time per case, shallow whole genome sequencing (sWGS) technologies offer new perspectives for the diagnostic work-up of this disorder. We compared sWGS with CCA for the detection of CNAs in 33 retrospective BM samples of patients with MDS. Using sWGS, CNAs were detected in all cases and additionally allowed the analysis of three cases for which CCA failed. The prognostic stratification (IPSS-R score) of 27 out of 30 patients was the same with both techniques. In the remaining cases, discrepancies were caused by the presence of balanced translocations escaping sWGS detection in two cases, a subclonal aberration reported with CCA that could not be confirmed by FISH or sWGS, and the presence of an isodicentric chromosome idic(17)(p11) missed by CCA. Since sWGS can almost entirely be automated, our findings indicate that sWGS is valuable in a routine setting validating it as a cost-efficient tool., (© 2023 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.)
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- 2023
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5. Cytogenetics in the management of hematological malignancies: Guidelines from the Groupe Francophone de Cytogénétique Hématologique.
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Nguyen-Khac F, Bidet A, Chapiro E, Lefebvre C, Michaux L, and Troadec MB
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- Humans, Cytogenetic Analysis, Hematologic Neoplasms diagnosis, Hematologic Neoplasms epidemiology, Hematologic Neoplasms genetics
- Abstract
Competing Interests: Declaration of Competing Interest The authors declare no competing financial interests.
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- 2023
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6. Cytogenetics in the management of B-cell acute lymphoblastic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
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Tueur G, Quessada J, De Bie J, Cuccuini W, Toujani S, Lefebvre C, Luquet I, Michaux L, and Lafage-Pochitaloff M
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- Humans, Cytogenetic Analysis methods, Prognosis, Societies, Medical, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma
- Abstract
Cytogenetic analysis is mandatory at initial assessment of B-cell acute lymphoblastic leukemia (B-ALL) due to its diagnostic and prognostic value. Results from chromosome banding analysis and complementary FISH are taken into account in therapeutic protocols and further completed by other techniques (RT-PCR, SNP-array, MLPA, NGS, OGM). Indeed, new genomic entities have been identified by NGS, mostly RNA sequencing, such as Ph-like ALL that can benefit from targeted therapy. Here, we have attempted to establish cytogenetic guidelines by reviewing the most recent published data including the novel 5th World Health Organization and International Consensus Classifications. We also focused on newly described cytogenomic entities and indicate alternative diagnostic tools such as NGS technology, as its importance is vastly increasing in the diagnostic setting., (Copyright © 2023. Published by Elsevier Masson SAS.)
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- 2023
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7. Cytogenetics in the management of T-cell acute lymphoblastic leukemia (T-ALL): Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
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De Bie J, Quessada J, Tueur G, Lefebvre C, Luquet I, Toujani S, Cuccuini W, Lafage-Pochitaloff M, and Michaux L
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- Humans, In Situ Hybridization, Fluorescence, Cytogenetic Analysis methods, T-Lymphocytes, Hematology, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma genetics, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma therapy
- Abstract
Molecular analysis is the hallmark of T-cell acute lymphoblastic leukemia (T-ALL) categorization. Several T-ALL sub-groups are well recognized based on the aberrant expression of specific transcription factors. This recently resulted in the implementation of eight provisional T-ALL entities into the novel 2022 International Consensus Classification, albeit not into the updated World Health Organization classification system. Despite this extensive molecular characterization, cytogenetic analysis remains the backbone of T-ALL diagnosis in many countries as chromosome banding analysis and fluorescence in situ hybridization are relatively inexpensive techniques to obtain results of diagnostic, prognostic and therapeutic interest. Here, we provide an overview of recurrent chromosomal abnormalities detectable in T-ALL patients and propose guidelines regarding their detection. By referring in parallel to the more general molecular classification approach, we hope to offer a diagnostic framework useful in a broad clinical genetic setting., (Copyright © 2023. Published by Elsevier Masson SAS.)
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- 2023
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8. Revisiting a case of idiopathic hypereosinophilic syndrome with novel molecular techniques identifies a second case of a myeloid/lymphoid neoplasm with a SART3::PDGFRB fusion.
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Van Thillo Q, Dewaele B, De Bie J, Michaux L, Devos T, and Vandenberghe P
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- Humans, Receptor, Platelet-Derived Growth Factor beta, Oncogene Proteins, Fusion genetics, Antigens, Neoplasm, RNA-Binding Proteins, Myeloproliferative Disorders, Hypereosinophilic Syndrome diagnosis, Hypereosinophilic Syndrome genetics, Lymphoma
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- 2023
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9. Therapeutic strategies to overcome EGFR mutations as acquired resistance mechanism in ALK-rearranged non-small-cell lung cancer: Case Reports.
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Michaux L, Perrier A, Mehlman C, Alshehhi H, Dubois A, Lacave R, Coulet F, Cadranel J, and Fallet V
- Abstract
Introduction: ALK tyrosine kinase inhibitors (ALK TKIs) have improved prognosis in ALK -rearranged ( ALK
+ ) non-small-cell lung cancer (NSCLC). However, drug resistance mechanisms occur inevitably during the course of treatment leading to disease progression. Activation of epidermal growth factor receptor (EGFR) bypass signaling pathway is an uncommon cause of acquired resistance to ALK TKIs., Method: We present two patients with EML4-ALK rearranged NSCLC, developing an acquired EGFR resistance mutation after receiving multiple lines of ALK TKIs., Results: While preclinical models have showed encouraging data, there is a critical need for clinical studies on treatment strategies to overcome this drug resistance. Three real-life therapeutic approaches were used in this report: i) using brigatinib, an inhibitor targeting both ALK and EGFR tyrosine kinases; ii) combining two ALK TKIs together; and iii) delivering doublet platinum chemotherapy. In case 1, time to treatment failure (TTF) was 9.5 months with brigatinib; in case 2, TTF was 10 months with combined TKIs (osimertinib and brigatinib), whereas TTF with chemotherapy was only 2 months. Tolerability profile TKIs combotherapy was acceptable., Conclusion: These case reports underline the therapeutic complexity of EGFR -acquired resistance mutation in ALK+ NSCLC and offers some leads to solve this real-life clinical challenge., Competing Interests: LM received support for attending meetings and travels from Bristol Myers Squibb and Olympus, all outside of the submitted work. CM received support for attending meeting and travel from ISIS Medical; outside of the submitted work. AD received support for attending meetings and travels from Astellas, Janssen, Bristol Myers Squibb, and Amgen, all outside of the submitted work. FC received payment for her institution for educational events from Astra Zeneca, outside of the submitted work. JC received grants for his institution from Pfizer, AbbVie, Sanofi, and Sophia Genetics; payment for participation to boards of experts from Amgen, Aztra Zeneca, Boehringer Ingelheim, Bristol Myers Squibb, Janssen, Merck Sharp and Dohme, Novartis, Pfizer, and Takeda; all outside of the submitted work. VF received payment for lectures from Pfizer, Takeda, Bristol Myers Squibb, Aztra Zeneca, Roche, and Boehringer Ingelheim; support for attending meetings and travels from Takeda, Janssen, Pfizer, Aztra Zeneca, and Novartis; all outside of the submitted work. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Michaux, Perrier, Mehlman, Alshehhi, Dubois, Lacave, Coulet, Cadranel and Fallet.)- Published
- 2023
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10. The 5th edition of the WHO classification of haematolymphoid tumors: comments from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
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Nguyen-Khac F, Bidet A, Troadec MB, Veronese L, Auger N, Daudignon A, Nadal N, Penther D, Michaux L, Lafage-Pochitaloff M, and Lefebvre C
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- Humans, Cytogenetic Analysis, World Health Organization, Chromosome Aberrations, Neoplasms
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- 2023
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11. t(9;12)(q22;p13) ETV6::SYK: A new recurrent cytogenetic aberration and tyrosine kinase gene fusion in myeloid or lymphoid neoplasms associated with eosinophilia.
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Lierman E, Smits S, Debackere K, André M, Michaux L, and Vandenberghe P
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- Humans, Chromosome Aberrations, Chromosomes, Human, Pair 12 genetics, Gene Fusion, Oncogene Proteins, Fusion genetics, Protein-Tyrosine Kinases genetics, Syk Kinase, Translocation, Genetic, Eosinophilia genetics, Neoplasms genetics
- Published
- 2023
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12. t(1;7;22)(p13;q21;q13) is a novel 3-way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report.
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Messiaen J, Uyttebroeck A, Michaux L, Vandenberghe P, Boeckx N, and Jacobs SA
- Abstract
Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent in situ hybridization analysis confirmed the presence of the RBM15-MKL1 fusion gene., Competing Interests: The authors declare that they have no competing interests., (Copyright: © Messiaen et al.)
- Published
- 2023
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13. Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management.
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Vermeersch G, Delforge M, Havelange V, Graux C, Michaux L, and Devos T
- Abstract
Chronic neutrophilic leukemia (CNL) is a rare but potentially aggressive BCR::ABL1 negative myeloproliferative neoplasm, characterized by sustained mature, neutrophilic leukocytosis. The discovery of key driver mutations in the colony-stimulating-factor-3 receptor ( CSF3R ) gene resulted in the updated World Health Organization (WHO) diagnostic criteria in 2016. A significant number of CNL cases have been associated with plasma cell dyscrasias, predominantly multiple myeloma (MM) and monoclonal gammopathy of unknown significance (MGUS). Compared to pure CNL, mutated CSF3R is infrequently reported in CNL cases associated with monoclonal gammopathies (MG). Until now it remains unclear whether CNL and occurring plasma cell neoplasms are clonally related or CNL is developing secondary to the underlying dyscrasia. Owing to its rarity, currently no standard of care management exists for CNL and MG-associated CNL. In this case series we report the multi-center experience of five MG-associated CNL cases with a median age of diagnosis of 69 years. Three patients (66%) showed predominance of lambda light chain expression. Four (80%) eventually evolved to MM, and one CNL-MGUS patient developed secondary acute myeloid leukemia (AML). Mutated CSF3R was present in the patient who developed AML but was absent in other cases. To assess possible associated genetic aberrations we performed recurrent analysis with next-generation sequencing (NGS). Two patients (40%) deceased with a median time of survival of 8 years after CNL diagnosis. Three (60%) are currently in follow-up with no reoccurring leukocytosis. This case series, followed by a short review, provides a long-term clinical and genetic overview of five CNL cases associated with MG., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Vermeersch, Delforge, Havelange, Graux, Michaux and Devos.)
- Published
- 2022
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14. Cardiac screening before returning to elite sport after SARS-CoV-2 infection.
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Hédon C, Schnell F, Sosner P, Chagué F, Schuster I, Julia M, Duparc A, Guy JM, Molinari N, Michaux L, Cransac F, and Cade S
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- Male, Humans, Young Adult, Adult, Female, SARS-CoV-2, Athletes, Heart, COVID-19 diagnosis, COVID-19 epidemiology, Myocarditis
- Abstract
Background: SARS-CoV-2 infection can induce cardiac damage. Therefore, in the absence of clear data, a cardiac evaluation was recommended for athletes before returning to play after recent SARS-CoV-2 infection., Aim: To assess the proportion of anomalies detected by this cardiac screening., Methods: We reviewed the medical files of elite athletes referred for cardiac evaluation before returning to play after a non-hospitalized SARS-CoV-2 infection (based on a positive polymerase chain reaction or antigen test) from March 2020 to July 2021 in 12 French centres., Results: A total of 554 elite athletes (professional or national level) were included (median age 22 years, 72.0% male). An electrocardiogram (ECG), echocardiogram and exercise test were performed in 551 (99.5%), 497 (89.7%) and 293 (52.9%) athletes, respectively. We found anomalies with a potential link with SARS-CoV-2 infection in four ECGs (0.7%), three echocardiograms (0.6%) and three exercise tests (1.0%). Cardiac magnetic resonance imaging was performed in 34 athletes (6.1%), mostly due to abnormal first-line examinations, and was abnormal in one (2.9%). The rates of those abnormalities were not higher among athletes with cardiac symptoms or more severe forms of non-hospitalized SARS-CoV-2 infection. Only one athlete had a possible SARS-CoV-2 myocarditis and sport was temporally contraindicated. None had a major cardiac event declared during the follow-up., Conclusion: The proportion of cardiac involvement after non-hospitalized forms of SARS-CoV-2 infection in athletes are very low. Systematic cardiac screening before returning to play seems to be unnecessary., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)
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- 2022
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15. Primary mediastinal large B-cell lymphoma is characterized by large-scale copy-neutral loss of heterozygosity.
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Tuveri S, Debackere K, Marcelis L, Dierckxsens N, Demeulemeester J, Dimitriadou E, Dierickx D, Lefesvre P, Deraedt K, Graux C, Michaux L, Cools J, Tousseyn T, Vermeesch JR, and Wlodarska I
- Subjects
- Genomics, Humans, Loss of Heterozygosity, Mutation, Lymphoma, Large B-Cell, Diffuse diagnosis, Mediastinal Neoplasms genetics
- Abstract
Development of primary mediastinal B-cell lymphoma (PMBL) is driven by cumulative genomic aberrations. We discovered a unique copy-neutral loss of heterozygosity (CN-LOH) landscape of PMBL which distinguishes this tumor from other B-cell malignancies, including the biologically related diffuse large B-cell lymphoma. Using single nucleotide polymorphism array analysis we identified large-scale CN-LOH lesions in 91% (30/33) of diagnostic PMBLs and both investigated PMBL-derived cell lines. Altogether, the cohort showed 157 extra-large (25.3-248.4 Mb) CN-LOH lesions affecting up to 14 chromosomes per case (mean of 4.4) and resulting in a reduction of heterozygosity an average of 9.9% (range 1.3-51%) of the genome. Predominant involvement of terminal chromosomal segments suggests the implication of B-cell specific crossover events in the pathogenesis of PMBL. Notably, CN-LOH stretches non-randomly clustered on 6p (60%), 15 (37.2%), and 17q (40%), and frequently co-occurred with homozygous mutations in the MHC I (6p21), B2M (15q15), and GNA13 (17q23) genes, respectively, as shown by preliminary whole-exome/genome sequencing data. Altogether, our findings implicate CN-LOH as a novel and distinct mutational process contributing to the molecular pathogenesis of PMBL. The aberration acting as "second hit" in the Knudson hypothesis, ranks as the major mechanism converting to homozygosity the PMBL-related driver genes. Screening of the cohort of 199 B cell leukemia/lymphoma whole-genomes revealed significant differences in the CN-LOH landscape of PMBL and other B-cell malignancies, including the biologically related diffuse large B-cell lymphoma., (© 2022 Wiley Periodicals LLC.)
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- 2022
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16. Next generation sequencing in therapy-related myeloid neoplasms compared to de novo myeloid neoplasms.
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Claerhout H, Vranckx H, Lierman E, Michaux L, and Boeckx N
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- High-Throughput Nucleotide Sequencing, Humans, Mutation, Leukemia, Myeloid, Acute chemically induced, Leukemia, Myeloid, Acute genetics, Myelodysplastic Syndromes chemically induced, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes pathology, Myeloproliferative Disorders genetics, Neoplasms, Second Primary
- Abstract
Introduction: Therapy-related myeloid neoplasms (t-MN) are frequently categorized according to previous therapy or pattern of cytogenetic abnormalities. Our objective was to evaluate and compare the mutational profile of de novo and t-MN by next generation sequencing., Methods: Sixty-four samples from patients with t-MN, previously treated for a solid tumor (mainly breast), or de novo AML, MDS, MDS/MPN were selected for our study. The library was prepared using diagnostic samples and the TruSight Myeloid sequencing panel targeting 54 genes. Samples were sequenced on a MiSeq. The classification system of the Belgian ComPerMed Expert Panel was used for the biological variant classification., Results: Taking only pathogenic, probably pathogenic variants and variants of unknown significance into account 141 variants in 33 genes were found in 52 of 64 samples (81%; mean number of variants per patient = 2; range = [1-11]; 67 variants in 25 genes in t-MN and 74 variants in 25 genes in de novo MN). Overall, the most frequently detected variants included TET2 (n = 22), TP53 (n = 12), DNMT3A (n = 10) and FLT3, NPM1, RUNX1 (n = 8 each)., Conclusion: Our study revealed a high variety of variants both in t-MN and de novo MN patients. There was a higher incidence of FLT3 and TP53 variants in t-MN compared to de novo MN.
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- 2022
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17. Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping.
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Rack K, De Bie J, Ameye G, Gielen O, Demeyer S, Cools J, De Keersmaecker K, Vermeesch JR, Maertens J, Segers H, Michaux L, and Dewaele B
- Subjects
- Chromosome Mapping methods, DNA Copy Number Variations, Humans, Workflow, Chromosome Aberrations, Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics
- Abstract
Acute lymphoblastic leukemia (ALL) is a malignancy that can be subdivided into distinct entities based on clinical, immunophenotypic and genomic features, including mutations, structural variants (SVs), and copy number alterations (CNA). Chromosome banding analysis (CBA) and Fluorescent In-Situ Hybridization (FISH) together with Multiple Ligation-dependent Probe Amplification (MLPA), array and PCR-based methods form the backbone of routine diagnostics. This approach is labor-intensive, time-consuming and costly. New molecular technologies now exist that can detect SVs and CNAs in one test. Here we apply one such technology, optical genome mapping (OGM), to the diagnostic work-up of 41 ALL cases. Compared to our standard testing pathway, OGM identified all recurrent CNAs and SVs as well as additional recurrent SVs and the resulting fusion genes. Based on the genomic profile obtained by OGM, 32 patients could be assigned to one of the major cytogenetic risk groups compared to 23 with the standard approach. The latter identified 24/34 recurrent chromosomal abnormalities, while OGM identified 33/34, misinterpreting only 1 case with low hypodiploidy. The results of MLPA were concordant in 100% of cases. Overall, there was excellent concordance between the results. OGM increased the detection rate and cytogenetic resolution, and abrogated the need for cascade testing, resulting in reduced turnaround times. OGM also provided opportunities for better patient stratification and accurate treatment options. However, for comprehensive cytogenomic testing, OGM still needs to be complemented with CBA or SNP-array to detect ploidy changes and with BCR::ABL1 FISH to assign patients as soon as possible to targeted therapy., (© 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.)
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- 2022
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18. Recommendations on the management of multiple myeloma in 2020.
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Vekemans MC, Doyen C, Caers J, Wu K, Kentos A, Mineur P, Michaux L, Delforge M, and Meuleman N
- Subjects
- Humans, Multiple Myeloma drug therapy
- Abstract
With the introduction of immunomodulatory drugs, proteasome inhibitors, and anti-CD38 monoclonal antibodies, major improvements have been achieved in the treatment of multiple myeloma (MM), with a significant impact on the outcome of this disease. Different treatment combinations are now in use and other therapies are being developed. Based on an extensive review of the recent literature, we propose practical recommendations on myeloma management, to be used by hematologists as a reference for daily practice.
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- 2022
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19. Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.
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Meyers S, Alberti-Servera L, Gielen O, Erard M, Swings T, De Bie J, Michaux L, Dewaele B, Boeckx N, Uyttebroeck A, De Keersmaecker K, Maertens J, Segers H, Cools J, and Demeyer S
- Abstract
Acute lymphoblastic leukemia (ALL) is characterized by the presence of chromosomal changes, including numerical changes, translocations, and deletions, which are often associated with additional single-nucleotide mutations. In this study, we used single cell-targeted DNA sequencing to evaluate the clonal heterogeneity of B-ALL at diagnosis and during chemotherapy treatment. We designed a custom DNA amplicon library targeting mutational hotspot regions (in 110 genes) present in ALL, and we measured the presence of mutations and small insertions/deletions (indels) in bone marrow or blood samples from 12 B-ALL patients, with a median of 7973 cells per sample. Nine of the 12 cases showed at least 1 subclonal mutation, of which cases with PAX5 alterations or high hyperdiploidy (with intermediate to good prognosis) showed a high number of subclones (1 to 7) at diagnosis, defined by a variety of mutations in the JAK/STAT, RAS, or FLT3 signaling pathways. Cases with RAS pathway mutations had multiple mutations in FLT3 , NRAS , KRAS , or BRAF in various clones. For those cases where we detected multiple mutational clones at diagnosis, we also studied blood samples during the first weeks of chemotherapy treatment. The leukemia clones disappeared during treatment with various kinetics, and few cells with mutations were easily detectable, even at low frequency (<0.1%). Our data illustrate that about half of the B-ALL cases show >2 subclones at diagnosis and that even very rare mutant cells can be detected at diagnosis or during treatment by single cell-targeted DNA sequencing., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.)
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- 2022
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20. Case report: Two sisters with light-chain cardiac amyloidosis, a mere coincidence?
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Cappuyns S, Verbesselt M, Van De Bruaene A, Bogaert J, Michaux L, and Delforge M
- Abstract
Background: Light-chain amyloidosis has always been described as a sporadic disease caused by plasma cell dyscrasia. Cardiac amyloidosis refers to cardiac involvement with infiltration of amyloid fibrils in the myocardium. The degree of cardiac involvement is the greatest predictor of prognosis. To our knowledge, AL cardiac amyloidosis has only been reported once before in first-degree relatives., Case Summary: In this report, we describe the unusual cases of two sisters with light-chain cardiac amyloidosis. The first patient underwent autologous stem cell transplantation and remained in remission for 10 years until the disease relapsed and she died of end-stage heart failure. The second patient was promptly started on a chemotherapy regimen but died shortly after her initial diagnosis due to rapid progression of cardiac dysfunction., Conclusion: Cardiac amyloidosis is a severe life-threatening condition which requires a multidisciplinary diagnostic and therapeutic approach. Based on this case report, a genetic cause for AL amyloidosis might be suspected or is this a purely coincidental finding? Counselling, screening, and follow-up of other family members are very challenging. As is often the case with rare diseases, many unsolved questions remain, representing important challenges for clinicians., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.)
- Published
- 2022
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21. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.
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Lafage-Pochitaloff M, Gerby B, Baccini V, Largeaud L, Fregona V, Prade N, Juvin PY, Jamrog L, Bories P, Hébrard S, Lagarde S, Mansat-De Mas V, Dovey OM, Yusa K, Vassiliou GS, Jansen JH, Tekath T, Rombaut D, Ameye G, Barin C, Bidet A, Boudjarane J, Collonge-Rame MA, Gervais C, Ittel A, Lefebvre C, Luquet I, Michaux L, Nadal N, Poirel HA, Radford-Weiss I, Ribourtout B, Richebourg S, Struski S, Terré C, Tigaud I, Penther D, Eclache V, Fontenay M, Broccardo C, and Delabesse E
- Subjects
- Animals, Cell Adhesion Molecule-1 genetics, Chromosome Deletion, Chromosomes, Human, Pair 11, Female, Genes, Tumor Suppressor, Humans, Mice, Cell Adhesion Molecule-1 metabolism, Leukemia, Myeloid, Acute genetics, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes pathology
- Abstract
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis leading to peripheral cytopenias and in a substantial proportion of cases to acute myeloid leukemia. The deletion of the long arm of chromosome 11, del(11q), is a rare but recurrent clonal event in MDS. Here, we detail the largest series of 113 cases of MDS and myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) harboring a del(11q) analyzed at clinical, cytological, cytogenetic, and molecular levels. Female predominance, a survival prognosis similar to other MDS, a low monocyte count, and dysmegakaryopoiesis were the specific clinical and cytological features of del(11q) MDS. In most cases, del(11q) was isolated, primary and interstitial encompassing the 11q22-23 region containing ATM, KMT2A, and CBL genes. The common deleted region at 11q23.2 is centered on an intergenic region between CADM1 (also known as Tumor Suppressor in Lung Cancer 1) and NXPE2. CADM1 was expressed in all myeloid cells analyzed in contrast to NXPE2. At the functional level, the deletion of Cadm1 in murine Lineage-Sca1+Kit+ cells modifies the lymphoid-to-myeloid ratio in bone marrow, although not altering their multilineage hematopoietic reconstitution potential after syngenic transplantation. Together with the frequent simultaneous deletions of KMT2A, ATM, and CBL and mutations of ASXL1, SF3B1, and CBL, we show that CADM1 may be important in the physiopathology of the del(11q) MDS, extending its role as tumor-suppressor gene from solid tumors to hematopoietic malignancies., (© 2022 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
22. Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation.
- Author
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Bos S, Daniëls L, Michaux L, Vanden Bempt I, Vermeer S, Woei-A-Jin FJSH, Schöffski P, Weynand B, Sciot R, Declercq S, Ceulemans LJ, Godinas L, Verleden GM, Van Raemdonck DE, Dupont LJ, and Vos R
- Subjects
- Adult, Female, Humans, Hemangiosarcoma etiology, Lung Transplantation adverse effects, Tissue Donors
- Abstract
A 35-year-old woman underwent bilateral lung transplantation for primary ciliary dyskinesia and developed vascular tumors over a slow time course. Initial presentation of non-specific vascular tumors in the lungs and liver for up to 6 years after transplantation evolved toward bilateral ovarian angiosarcoma. Tumor analysis by haplotyping and human leukocyte antigen typing showed mixed donor chimerism, proving donor origin of the tumoral lesions. In retrospect, the donor became brain dead following neurosurgical complications for a previously biopsy-proven cerebral hemangioma, which is believed to have been a precursor lesion of the vascular malignancy in the recipient. Donor-transmitted tumors should always be suspected in solid organ transplant recipients in case of uncommon disease course or histology, and proper tissue-based diagnosis using sensitive techniques should be pursued., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Bos, Daniëls, Michaux, Vanden Bempt, Vermeer, Woei-A-Jin, Schöffski, Weynand, Sciot, Declercq, Ceulemans, Godinas, Verleden, Van Raemdonck, Dupont, Vos and the Leuven Lung Transplant Group.)
- Published
- 2022
- Full Text
- View/download PDF
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