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Article ; Online: Three UBA1 clones for a unique VEXAS syndrome.

Podvin, Benjamin / Cleenewerck, Nathalie / Nibourel, Olivier / Marceau-Renaut, Alice / Roynard, Pauline / Preudhomme, Claude / Duployez, Nicolas / Terriou, Louis

Rheumatology (Oxford, England)

2023 Volume 63, Issue 2, Page(s) e48–e50

MeSH term(s)	Humans ; Clone Cells ; Mutation ; Myelodysplastic Syndromes ; Skin Diseases, Genetic
Language	English
Publishing date	2023-09-12
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/kead472
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Article ; Online: Chronic myeloid leukaemia presenting with monocytosis.

Podvin, Benjamin / Goursaud, Laure / Roynard, Pauline / Nibourel, Olivier / Duployez, Nicolas / Fenwarth, Laurène

British journal of haematology

2021 Volume 196, Issue 1, Page(s) 8

MeSH term(s)	Aged, 80 and over ; Blood Cell Count ; Cytogenetic Analysis ; Diagnosis, Differential ; Humans ; Immunohistochemistry ; Immunophenotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/etiology ; Leukocytosis/diagnosis ; Leukocytosis/etiology ; Male ; Monocytes/cytology ; Symptom Assessment
Language	English
Publishing date	2021-08-19
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.17725
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Article ; Online: Resurgence of myeloproliferative neoplasm in patients in remission from blast transformation after treatment with hypomethylating agents.

Chauvet, Paul / Nibourel, Olivier / Berthon, Celine / Goursaud, Laure / Carpentier, Benjamin / Lionne-Huyghe, Pauline / Wemeau, Mathieu / Quesnel, Bruno

Leukemia research

2022 Volume 118, Page(s) 106871

Abstract: Subsequent blast (BP) or accelerated phase (AP) is a severe complication of Philadelphia-negative myeloproliferative neoplasms (MPNs). The prognosis is generally dismal, but hypomethylating agents (HMAs) may induce a long-lasting response in a minority ... ...

Abstract	Subsequent blast (BP) or accelerated phase (AP) is a severe complication of Philadelphia-negative myeloproliferative neoplasms (MPNs). The prognosis is generally dismal, but hypomethylating agents (HMAs) may induce a long-lasting response in a minority of patients. Here, we report a cohort of six patients with BP/AP-MPN who experienced MPN relapse after a leukemia response was obtained with azacytidine. Five of the patients achieved complete remission despite the presence of characteristics associated with poor prognosis, such as complex and monosomal karyotypes, TP53 mutations, and EVI1 overexpression. These remissions persisted for over five years in four of the 6 patients. All patients showed rapid reemergence of MPN within a median of two months with thrombocytosis requiring the addition of anagrelide, hydroxyurea, or ruxolitinib given continuously in parallel with the azacytidine cycle. Serial JAK2 V617F allelic burden measurements showed little variation. Thromboembolic events occurred in 3 patients, one leading to death. These findings confirm that HMA may reverse the disease course in AP/BP-MPN to a more chronic phase that may last for years but also lead to morbidity and mortality. Combining maintenance therapy with HMA and MPN-specific drugs appears to be a possible approach to avoiding leukemia relapse and controlling MPN disease.
MeSH term(s)	Azacitidine/therapeutic use ; Humans ; Janus Kinase 2/genetics ; Leukemia/drug therapy ; Lymphocyte Activation ; Mutation ; Myeloproliferative Disorders/drug therapy ; Myeloproliferative Disorders/genetics ; Neoplasms/drug therapy ; Recurrence
Chemical Substances	Janus Kinase 2 (EC 2.7.10.2) ; Azacitidine (M801H13NRU)
Language	English
Publishing date	2022-05-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	752396-8
ISSN	1873-5835 ; 0145-2126
ISSN (online)	1873-5835
ISSN	0145-2126
DOI	10.1016/j.leukres.2022.106871
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Article ; Online: Subclonal acquisition of a BCR::ABL1 fusion in a chronic myelomonocytic leukemia.

Podvin, Benjamin / Guermouche, Hélène / Roynard, Pauline / Goursaud, Laure / Berthon, Céline / Ouafi, Mahdi / Fourner, Elise / Duployez, Nicolas / Nibourel, Olivier / Roche-Lestienne, Catherine

Annals of hematology

2022 Volume 101, Issue 9, Page(s) 2093–2095

MeSH term(s)	Fusion Proteins, bcr-abl/genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics ; Leukemia, Myelomonocytic, Chronic/genetics ; Leukemia, Myelomonocytic, Juvenile
Chemical Substances	Fusion Proteins, bcr-abl (EC 2.7.10.2)
Language	English
Publishing date	2022-05-13
Publishing country	Germany
Document type	Letter
ZDB-ID	1064950-5
ISSN	1432-0584 ; 0939-5555 ; 0945-8077
ISSN (online)	1432-0584
ISSN	0939-5555 ; 0945-8077
DOI	10.1007/s00277-022-04861-4
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Article ; Online: Frugal alignment-free identification of FLT3-internal tandem duplications with FiLT3r.

Boudry, Augustin / Darmon, Sasha / Duployez, Nicolas / Figeac, Martin / Geffroy, Sandrine / Bucci, Maxime / Celli-Lebras, Karine / Duchmann, Matthieu / Joudinaud, Romane / Fenwarth, Laurène / Nibourel, Olivier / Goursaud, Laure / Itzykson, Raphael / Dombret, Hervé / Hunault, Mathilde / Preudhomme, Claude / Salson, Mikaël

BMC bioinformatics

2022 Volume 23, Issue 1, Page(s) 448

Abstract: Background: Internal tandem duplications in the FLT3 gene, termed FLT3-ITDs, are useful molecular markers in acute myeloid leukemia (AML) for patient risk stratification and follow-up. FLT3-ITDs are increasingly screened through high-throughput ... ...

Abstract	Background: Internal tandem duplications in the FLT3 gene, termed FLT3-ITDs, are useful molecular markers in acute myeloid leukemia (AML) for patient risk stratification and follow-up. FLT3-ITDs are increasingly screened through high-throughput sequencing (HTS) raising the need for robust and efficient algorithms. We developed a new algorithm, which performs no alignment and uses little resources, to identify and quantify FLT3-ITDs in HTS data. Results: Our algorithm (FiLT3r) focuses on the k-mers from reads covering FLT3 exons 14 and 15. We show that those k-mers bring enough information to accurately detect, determine the length and quantify FLT3-ITD duplications. We compare the performances of FiLT3r to state-of-the-art alternatives and to fragment analysis, the gold standard method, on a cohort of 185 AML patients sequenced with capture-based HTS. On this dataset FiLT3r is more precise (no false positive nor false negative) than the other software evaluated. We also assess the software on public RNA-Seq data, which confirms the previous results and shows that FiLT3r requires little resources compared to other software. Conclusion: FiLT3r is a free software available at https://gitlab.univ-lille.fr/filt3r/filt3r . The repository also contains a Snakefile to reproduce our experiments. We show that FiLT3r detects FLT3-ITDs better than other software while using less memory and time.
MeSH term(s)	Humans ; Tandem Repeat Sequences/genetics ; Leukemia, Myeloid, Acute/genetics ; High-Throughput Nucleotide Sequencing ; Exons ; Base Sequence ; fms-Like Tyrosine Kinase 3/genetics ; Mutation
Chemical Substances	fms-Like Tyrosine Kinase 3 (EC 2.7.10.1) ; FLT3 protein, human (EC 2.7.10.1)
Language	English
Publishing date	2022-10-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2041484-5
ISSN	1471-2105 ; 1471-2105
ISSN (online)	1471-2105
ISSN	1471-2105
DOI	10.1186/s12859-022-04983-6
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Article ; Online: Publisher Correction: Frugal alignment-free identification of FLT3-internal tandem duplications with FiLT3r.

BMC bioinformatics

2022 Volume 23, Issue 1, Page(s) 533

Language	English
Publishing date	2022-12-09
Publishing country	England
Document type	Published Erratum
ZDB-ID	2041484-5
ISSN	1471-2105 ; 1471-2105
ISSN (online)	1471-2105
ISSN	1471-2105
DOI	10.1186/s12859-022-05079-x
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Article: Minimal Residual Disease assessment of IDH1/2 mutations in Acute Myeloid Leukemia by LNA-RQ-PCR.

Abdelhamid, Emna / Besbes, Sawsen / Renneville, Aline / Nibourel, Olivier / Helevaut, Nathalie / Preudhomme, Claude / Soua, Zohra

La Tunisie medicale

2016 Volume 94, Issue 3, Page(s) 190–197

Abstract: Background: With the growing importance of minimal residual disease (MRD) monitoring and the recent discover of IDH mutations in acute myeloid leukemia (AML), the quantification of this molecular marker provides the possibility to monitor the disease ... ...

Abstract	Background: With the growing importance of minimal residual disease (MRD) monitoring and the recent discover of IDH mutations in acute myeloid leukemia (AML), the quantification of this molecular marker provides the possibility to monitor the disease progression and the therapy efficacy. Objective: The aim of this study is to assess the MRD in AML for the first time with IDH1 and IDH2 gene mutations in 15 AML patients. Methods: We have screened R132 IDH1, R140 IDH2 and R172 IDH2 mutations by PCR amplification and direct sequencing and we have quantified them for the first time by RQ-PCR using reverse primers modified by an LNA. A good sensitivity has been obtained. MRD rates obtained by LNA-RQ-PCR were used to draw kinetics of the disease evolution during the follow-up. Results: IDH1/2 Results were compared to NPM1 mutation and WT1 over expression and have showed coherent kinetic between MRD rates in 7/11 cases. For the rest, the direct sequencing and the high resolution melting (HRM) assay have confirmed the quantification Results in diagnosis but not in residual samples. Conclusion: Some optimization will be necessary to improve the mutated allele amplification. The LNA-RQ-PCR might be an easy and less cost method used in a small laboratory for myeloid leukemia MRD assessment using IDH1/2 mutations.
MeSH term(s)	Adult ; Aged ; Female ; Humans ; Isocitrate Dehydrogenase/genetics ; Leukemia, Myeloid, Acute/genetics ; Male ; Middle Aged ; Mutation ; Neoplasm, Residual/diagnosis ; Nucleophosmin ; Oligonucleotides ; Real-Time Polymerase Chain Reaction
Chemical Substances	NPM1 protein, human ; Oligonucleotides ; locked nucleic acid ; Nucleophosmin (117896-08-9) ; IDH2 protein, human (EC 1.1.1.41) ; Isocitrate Dehydrogenase (EC 1.1.1.41) ; IDH1 protein, human (EC 1.1.1.42.)
Language	English
Publishing date	2016-09-03
Publishing country	Tunisia
Document type	Journal Article
ZDB-ID	128627-4
ISSN	0041-4131
ISSN	0041-4131
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Article ; Online: Disease escape with the selective loss of the Philadelphia chromosome after tyrosine kinase inhibitor exposure in Ph-positive acute lymphoblastic leukemia.

Gazeau, Nicolas / Derrieux, Coralie / Nibourel, Olivier / Berthon, Céline / Grardel, Nathalie / Goursaud, Laure / Boyer, Thomas / Dumezy, Florent / Coiteux, Valérie / Quesnel, Bruno / Preudhomme, Claude / Roche-Lestienne, Catherine / Duployez, Nicolas

Leukemia

2020 Volume 34, Issue 8, Page(s) 2230–2233

MeSH term(s)	Female ; Fusion Proteins, bcr-abl/genetics ; Fusion Proteins, bcr-abl/physiology ; Humans ; Middle Aged ; Philadelphia Chromosome ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Protein Kinase Inhibitors/therapeutic use
Chemical Substances	BCR-ABL1 fusion protein, human ; Protein Kinase Inhibitors ; Fusion Proteins, bcr-abl (EC 2.7.10.2)
Language	English
Publishing date	2020-01-27
Publishing country	England
Document type	Case Reports ; Letter
ZDB-ID	807030-1
ISSN	1476-5551 ; 0887-6924
ISSN (online)	1476-5551
ISSN	0887-6924
DOI	10.1038/s41375-020-0715-2
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Article ; Online: Inherited transmission of the CSF3R T618I mutational hotspot in familial chronic neutrophilic leukemia.

Duployez, Nicolas / Willekens, Christophe / Plo, Isabelle / Marceau-Renaut, Alice / de Botton, Stéphane / Fenwarth, Laurène / Boyer, Thomas / Huet, Guillemette / Nibourel, Olivier / Rose, Christian / Nelken, Brigitte / Quesnel, Bruno / Preudhomme, Claude

Blood

2019 Volume 134, Issue 26, Page(s) 2414–2416

MeSH term(s)	Adolescent ; Adult ; Child ; Female ; Genetic Predisposition to Disease ; Humans ; Leukemia, Neutrophilic, Chronic/genetics ; Leukemia, Neutrophilic, Chronic/pathology ; Male ; Mutation ; Pedigree ; Receptors, Colony-Stimulating Factor/genetics ; Signal Transduction
Chemical Substances	CSF3R protein, human ; Receptors, Colony-Stimulating Factor
Language	English
Publishing date	2019-11-21
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2019003206
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Article ; Online: Recommandations du France Intergroupe des leucémies myéloïdes chroniques (Fi-LMC) pour l’examen des mutations du domaine kinase de BCR-ABL1 dans la leucémie myéloïde chronique.

Cayuela, Jean-Michel / Chomel, Jean-Claude / Coiteux, Valérie / Dulucq, Stéphanie / Escoffre-Barbe, Martine / Etancelin, Pascaline / Etienne, Gabriel / Hayette, Sandrine / Millot, Frédéric / Nibourel, Olivier / Nicolini, Franck-Emmanuel / Réa, Delphine

Bulletin du cancer

2019 Volume 107, Issue 1, Page(s) 113–128

Abstract: In the context of chronic myeloid leukemia (CML) resistant to tyrosine kinase inhibitors (TKIs), BCR-ABL1 tyrosine kinase domain (TKD) mutations still remain the sole biological marker that directly condition therapeutic decision. These recommendations ... ...

Title translation	Recommendations from the French CML Study Group (Fi-LMC) for BCR-ABL1 kinase domain mutation analysis in chronic myeloid leukemia.
Abstract	In the context of chronic myeloid leukemia (CML) resistant to tyrosine kinase inhibitors (TKIs), BCR-ABL1 tyrosine kinase domain (TKD) mutations still remain the sole biological marker that directly condition therapeutic decision. These recommendations aim at updating the use of BCR-ABL1 mutation testing with respect to new available therapeutic options and at repositioning different testing methods at the era of next generation sequencing (NGS). They have been written by a panel of experts from the French Study Group on CML (Fi-LMC), after a critical review of relevant publications. TKD mutation testing is recommended in case of treatment failure but not in case of optimal response. For patients in warning situation, mutation testing must be discussed depending on the type of TKI used, lasting of the treatment, kinetic evolution of BCR-ABL1 transcripts along time and necessity for switching treatment. The kind and the frequency of TKD mutations occasioning resistance mainly depend on the TKI in use and disease phase. Because of its better sensitivity, NGS methods are recommended for mutation testing rather than Sanger's. Facing a given TKD mutation, therapeutic decision should be taken based on in vitro sensitivity and clinical efficacy data. Identification by sequencing of a TKD mutation known to induce resistance must lead to a therapeutic change. The clinical value of testing methods more sensitive than NGS remains to be assessed.
MeSH term(s)	Antineoplastic Agents/therapeutic use ; Catalytic Domain ; Clinical Decision-Making ; DNA Mutational Analysis/methods ; DNA, Neoplasm/analysis ; DNA, Neoplasm/genetics ; Drug Resistance, Neoplasm/genetics ; Drug Substitution ; Fusion Proteins, bcr-abl/antagonists & inhibitors ; Fusion Proteins, bcr-abl/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/enzymology ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics ; Molecular Biology ; Mutation, Missense ; Point Mutation ; Protein Domains ; Protein Kinase Inhibitors/therapeutic use ; Role
Chemical Substances	Antineoplastic Agents ; BCR-ABL1 fusion protein, human ; DNA, Neoplasm ; Protein Kinase Inhibitors ; Fusion Proteins, bcr-abl (EC 2.7.10.2)
Language	French
Publishing date	2019-07-26
Publishing country	France
Document type	Consensus Development Conference ; Journal Article ; Practice Guideline ; Review
ZDB-ID	213270-9
ISSN	1769-6917 ; 0007-4551
ISSN (online)	1769-6917
ISSN	0007-4551
DOI	10.1016/j.bulcan.2019.05.011
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