First case of B ALL with KMT2A-MAML2 rearrangement: a case report

Autor: Estelle Menu, Nathalie Beaufils, Fabrice Usseglio, Estelle Balducci, Marina Lafage Pochitaloff, Regis Costello, Jean Gabert

Publikováno v: BMC Cancer, Vol 17, Iss 1, Pp 1-5 (2017)

Abstract Background A large number of chromosomal translocations of the human KMT2A gene, better known as the MLL gene, have so far been characterized. Genetic rearrangements involving KMT2A gene are frequently involved in lymphoid, myeloid and mixed

Externí odkaz: https://doaj.org/article/32ab7b4fb0904286895a5fdb88e7f3e1

Supplementary Figures S1-S10 from Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis

Autor: Emmanuelle Clappier, Nicolas Boissel, Philippe Rousselot, Jean Soulier, Hervé Dombret, Véronique Lhéritier, Françoise Huguet, Thibaut Leguay, Mathilde Hunault, Patrice Chevallier, Carlos Graux, Yves Chalandon, Yosr Hicheri, Lionel Adès, Raphaël Itzykson, Eric Delabesse, Beat W. Schäfer, Vahid Asnafi, Nathalie Grardel, Cédric Pastoret, Marina Lafage-Pochitaloff, Wendy Cuccuini, Stéphanie Gachet, Marie Passet, Matthieu Duchmann, Lise Larcher, Hugo Bergugnat, Rathana Kim

Supplementary figure 1. Sequencing-based analysis of CNA and LOH in adult LH-ALL. Supplementary figure 2. Representation of mutations in the frequent targeted genes in adult LH-ALL. Supplementary figure 3. Longitudinal assessment of TP53-mutant cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::973cf0a2d864f73f4aa31e2bd4ca6e02
https://doi.org/10.1158/2643-3230.22546284.v1

Data from Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis

Autor: Emmanuelle Clappier, Nicolas Boissel, Philippe Rousselot, Jean Soulier, Hervé Dombret, Véronique Lhéritier, Françoise Huguet, Thibaut Leguay, Mathilde Hunault, Patrice Chevallier, Carlos Graux, Yves Chalandon, Yosr Hicheri, Lionel Adès, Raphaël Itzykson, Eric Delabesse, Beat W. Schäfer, Vahid Asnafi, Nathalie Grardel, Cédric Pastoret, Marina Lafage-Pochitaloff, Wendy Cuccuini, Stéphanie Gachet, Marie Passet, Matthieu Duchmann, Lise Larcher, Hugo Bergugnat, Rathana Kim

Low hypodiploidy defines a rare subtype of B-cell acute lymphoblastic leukemia (B-ALL) with a dismal outcome. To investigate the genomic basis of low-hypodiploid ALL (LH-ALL) in adults, we analyzed copy-number aberrations, loss of heterozygosity, mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1992daab46fafd21f5bedc87bfc4966e
https://doi.org/10.1158/2643-3230.c.6551136

The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Autor: Virginie Eclache, John Boudjarane, Naïs Prade, Stéphanie Struski, Laetitia Largeaud, Cyril Broccardo, Joop H. Jansen, Christine Terré, Marie-Agnès Collonge-Rame, Pierre-Yves Juvin, Dominique Penther, Stéphanie Lagarde, Antoine Ittel, Véronique Mansat-De Mas, G Ameye, Isabelle Luquet, Marina Lafage-Pochitaloff, Carole Barin, David Rombaut, Bastien Gerby, Carine Gervais, Steven Richebourg, Oliver M. Dovey, Pierre Bories, Christine Lefebvre, Isabelle Radford-Weiss, Audrey Bidet, Isabelle Tigaud, George S. Vassiliou, Benedicte Ribourtout, Tobias Tekath, Michaela Fontenay, Lucienne Michaux, Sylvie Hébrard, Hélène Antoine-Poirel, Laura Jamrog, Vincent Fregona, Nathalie Nadal, Eric Delabesse, Véronique Baccini, Kosuke Yusa

Publikováno v: Blood Advances, 6, 2, pp. 386-398
Blood Advances
Blood Advances, 6, 386-398
Blood Advances, The American Society of Hematology, 2021, ⟨10.1182/bloodadvances.2021005311⟩

Key Points We detail at clinical, cytological, cytogenetic, and molecular levels 113 cases of MDS and MDS/MPN with del(11q), a rare recurrent event.CADM1, a tumor suppressor gene identified initially in solid tumors, ATM, CBL, and KMT2A are deleted a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a801474f49c15e8392848015e288927
https://repository.ubn.ru.nl/handle/2066/244555

Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge

Autor: Paul Saultier, Marie Loosveld, Marina Lafage-Pochitaloff, Christine J. Harrison, Julie Quessada, Wendy Cuccuini

Publikováno v: Genes
Genes, 2021, 12 (6), pp.924. ⟨10.3390/genes12060924⟩
Genes, MDPI, 2021, 12 (6), pp.924. ⟨10.3390/genes12060924⟩
Genes, Vol 12, Iss 924, p 924 (2021)

International audience; Pediatric acute myeloid leukemia is a rare and heterogeneous disease in relation to morphology, immunophenotyping, germline and somatic cytogenetic and genetic abnormalities. Over recent decades, outcomes have greatly improved

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18332c03477f0b31b6aaabdab030c1ce
https://pubmed.ncbi.nlm.nih.gov/34204358