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  1. Article ; Online: The polymerase chain reaction, so simple, so clever: the discovery that made minimal residual disease come true.

    Cavé, Hélène

    Haematologica

    2022  Volume 107, Issue 8, Page(s) 1737–1738

    MeSH term(s) Humans ; Neoplasm, Residual/genetics ; Polymerase Chain Reaction ; Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Language English
    Publishing date 2022-08-01
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2333-4
    ISSN 1592-8721 ; 0017-6567 ; 0390-6078
    ISSN (online) 1592-8721
    ISSN 0017-6567 ; 0390-6078
    DOI 10.3324/haematol.2022.281413
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  2. Article ; Online: Relevant subtypes in childhood ALL.

    Arfeuille, Chloé / Cavé, Hélène

    HemaSphere

    2019  Volume 3, Issue Suppl

    Language English
    Publishing date 2019-06-30
    Publishing country United States
    Document type Journal Article
    ISSN 2572-9241
    ISSN (online) 2572-9241
    DOI 10.1097/HS9.0000000000000245
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  3. Article ; Online: A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity.

    Strullu, Marion / Caye-Eude, Aurélie / Fenneteau, Odile / Arfeuille, Chloé / Cuccuini, Wendy / Cavé, Hélène / Baruchel, André / Lainey, Elodie

    Pediatric blood & cancer

    2024  Volume 71, Issue 3, Page(s) e30842

    MeSH term(s) Child ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Monocytes ; PAX5 Transcription Factor/genetics
    Chemical Substances PAX5 Transcription Factor ; PAX5 protein, human
    Language English
    Publishing date 2024-01-08
    Publishing country United States
    Document type Letter
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30842
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  4. Article ; Online: Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.

    Vial, Yoann / Nardelli, Jeannette / Bonnard, Adeline A / Rousselot, Justine / Souyri, Michèle / Gressens, Pierre / Cavé, Hélène / Drunat, Séverine

    EMBO reports

    2024  

    Abstract: Microcephaly is a common feature in inherited bone marrow failure syndromes, prompting investigations into shared pathways between neurogenesis and hematopoiesis. To understand this association, we studied the role of the microcephaly gene Mcph1 in ... ...

    Abstract Microcephaly is a common feature in inherited bone marrow failure syndromes, prompting investigations into shared pathways between neurogenesis and hematopoiesis. To understand this association, we studied the role of the microcephaly gene Mcph1 in hematological development. Our research revealed that Mcph1-knockout mice exhibited congenital macrocytic anemia due to impaired terminal erythroid differentiation during fetal development. Anemia's cause is a failure to complete cell division, evident from tetraploid erythroid progenitors with DNA content exceeding 4n. Gene expression profiling demonstrated activation of the p53 pathway in Mcph1-deficient erythroid precursors, leading to overexpression of Cdkn1a/p21, a major mediator of p53-dependent cell cycle arrest. Surprisingly, fetal brain analysis revealed hypertrophied binucleated neuroprogenitors overexpressing p21 in Mcph1-knockout mice, indicating a shared pathophysiological mechanism underlying both erythroid and neurological defects. However, inactivating p53 in Mcph1
    Language English
    Publishing date 2024-04-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 2020896-0
    ISSN 1469-3178 ; 1469-221X
    ISSN (online) 1469-3178
    ISSN 1469-221X
    DOI 10.1038/s44319-024-00123-8
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    Zs.MG 41: Show issues

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  5. Article ; Online: Partitioning for Easy Multiplexing: A Versatile Droplet PCR Application for Clone Monitoring in Tumors.

    Kinoo, Alexia / Caye-Eude, Aurélie / Vial, Yoann / Cavé, Hélène / Arfeuille, Chloé

    The Journal of molecular diagnostics : JMD

    2023  Volume 25, Issue 8, Page(s) 592–601

    Abstract: Clinical genome-wide next-generation sequencing (NGS) has brought new challenges to genetic laboratories. The identification of numerous patient-specific variants that may require to be screened for on multiple other samples poses an issue when striving ... ...

    Abstract Clinical genome-wide next-generation sequencing (NGS) has brought new challenges to genetic laboratories. The identification of numerous patient-specific variants that may require to be screened for on multiple other samples poses an issue when striving for time and cost-effectiveness. Here, we propose d-multiSeq, a straightforward method utilizing the advantages of droplet PCR for multiplexing combined with amplicon-based NGS. By comparing d-multiSeq with a standard multiplex amplicon-based NGS, it was shown that partitioning prevents the amplification competition seen when multiplexing and leads to a homogeneous representation of each target in the total read count for up to a 40-target multiplex without the need for prior adjustment. Variant allele frequency was reliably evaluated with a sensitivity of 97.6% for variant allele frequency up to 1%. The applicability of d-multiSeq was also tested on cell-free DNA with the successful amplification of an eight-target multiplex panel. Preliminary application of the technique to assess the clonal evolution in a childhood leukemia harboring high interpatient variability in its somatic variants is shown. d-multiSeq represents a turnkey solution for analyzing large sets of patient-specific variants on low DNA amounts and cell-free DNA.
    MeSH term(s) Polymerase Chain Reaction/methods ; High-Throughput Nucleotide Sequencing ; Cell-Free Nucleic Acids/analysis ; Cell-Free Nucleic Acids/genetics ; Humans ; Neoplasms/genetics
    Chemical Substances Cell-Free Nucleic Acids
    Language English
    Publishing date 2023-06-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2000060-1
    ISSN 1943-7811 ; 1525-1578
    ISSN (online) 1943-7811
    ISSN 1525-1578
    DOI 10.1016/j.jmoldx.2023.04.008
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  6. Article ; Online: Juvenile myelomonocytic leukemia; moving forward.

    Elghetany, M Tarek / Cavé, Hélène / De Vito, Rita / Patnaik, Mrinal M / Solary, Eric / Khoury, Joseph D

    Leukemia

    2023  Volume 37, Issue 3, Page(s) 720–722

    MeSH term(s) Humans ; Leukemia, Myelomonocytic, Juvenile/genetics ; Leukemia, Myelomonocytic, Juvenile/therapy
    Language English
    Publishing date 2023-01-20
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 807030-1
    ISSN 1476-5551 ; 0887-6924
    ISSN (online) 1476-5551
    ISSN 0887-6924
    DOI 10.1038/s41375-023-01818-y
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    Zs.A 2295: Show issues Location:
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  7. Article ; Online: IKZF1 deletions in pediatric acute lymphoblastic leukemia: still a poor prognostic marker?

    Stanulla, Martin / Cavé, Hélène / Moorman, Anthony V

    Blood

    2019  Volume 135, Issue 4, Page(s) 252–260

    Abstract: Improved personalized adjustment of primary therapy to the perceived risk of relapse by using new prognostic markers for treatment stratification may be beneficial to patients with acute lymphoblastic leukemia (ALL). Here, we review the advances that ... ...

    Abstract Improved personalized adjustment of primary therapy to the perceived risk of relapse by using new prognostic markers for treatment stratification may be beneficial to patients with acute lymphoblastic leukemia (ALL). Here, we review the advances that have shed light on the role of IKZF1 aberration as prognostic factor in pediatric ALL and summarize emerging concepts in this field. Continued research on the interplay of disease biology with exposure and response to treatment will be key to further improve treatment strategies.
    MeSH term(s) Animals ; Child ; Drug Resistance, Neoplasm ; Gene Deletion ; Humans ; Ikaros Transcription Factor/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Prognosis
    Chemical Substances IKZF1 protein, human ; Ikaros Transcription Factor (148971-36-2)
    Language English
    Publishing date 2019-12-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2019000813
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    Zs.MO 364: Show issues

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  8. Article ; Online: De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.

    Vial, Yoann / Lainey, Elodie / Leblanc, Thierry / Baudouin, Véronique / Dourthe, Marie Emilie / Gressens, Pierre / Verloes, Alain / Cavé, Hélène / Drunat, Séverine

    British journal of haematology

    2022  Volume 199, Issue 5, Page(s) 739–743

    Abstract: In a patient with severe microcephaly, congenital bone marrow failure, growth retardation, and renal hypoplasia, we identified a likely pathogenic variant in NUF2 that impairs the cell's ability to properly complete mitosis. Interestingly, these clinical ...

    Abstract In a patient with severe microcephaly, congenital bone marrow failure, growth retardation, and renal hypoplasia, we identified a likely pathogenic variant in NUF2 that impairs the cell's ability to properly complete mitosis. Interestingly, these clinical features as well as the observed cellular alterations are highly reminiscent of what is reported in Fanconi Anaemia supporting a unifying causal role of the variant in the disease. This case provides the first evidence that a kinetochore defect, previously associated with microcephaly, can be responsible for an inherited bone marrow failure syndrome, highlighting the unique pathological link between neurogenesis and haematopoiesis.
    MeSH term(s) Humans ; Cell Cycle Proteins ; Congenital Bone Marrow Failure Syndromes ; Fanconi Anemia ; Microcephaly/genetics
    Chemical Substances Cell Cycle Proteins ; NUF2 protein, human
    Language English
    Publishing date 2022-09-16
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.18461
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  9. Article ; Online: The prognostic value of IKZF1

    Kicinski, Michal / Arfeuille, Chloé / Grardel, Nathalie / Bakkus, Marleen / Caye-Eude, Aurélie / Plat, Geneviève / Ferster, Alina / Uyttebroeck, Anne / De Moerloose, Barbara / Rohrlich, Pierre / Suciu, Stefan / Bertrand, Yves / Cavé, Hélène

    Pediatric blood & cancer

    2023  Volume 70, Issue 6, Page(s) e30313

    Abstract: Background: IKZF1 gene deletion is an indicator of poor prognosis in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The AEIOP/BFM group proposed that the prognostic strength of IKZF1 deletion could be remarkably improved by taking ... ...

    Abstract Background: IKZF1 gene deletion is an indicator of poor prognosis in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The AEIOP/BFM group proposed that the prognostic strength of IKZF1 deletion could be remarkably improved by taking into account additional genetic deletions and reported that among patients with an IKZF1 deletion those with deletions in CDKN2A/2B, PAX5, or PAR1 in the absence of ERG deletion, grouped as IKZF1
    Procedure: Between 1998 and 2008, 1636 patients under 18 years of age with previously untreated BCP-ALL were registered in the EORTC 58951 trial. Those with multiplex ligation-dependent probe amplification data were included in this analysis. Unadjusted and adjusted Cox model was used to investigate the additional prognostic value of IKZF1
    Results: Among 1200 patients included in the analysis, 1039 (87%) had no IKZF1 deletion (IKZF1
    Conclusions: In patients with BCP-ALL from the EORTC 58951 trial, the improvement of the prognostic importance of IKZF1 by considering IKZF1
    MeSH term(s) Adolescent ; Humans ; Burkitt Lymphoma ; Gene Deletion ; Ikaros Transcription Factor/genetics ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Prognosis
    Chemical Substances Ikaros Transcription Factor (148971-36-2) ; IKZF1 protein, human
    Language English
    Publishing date 2023-03-27
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30313
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  10. Article ; Online: A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

    Hakim Si Ahmed / Ouardia Belarbi / Smail Daoudi / Pierre Labauge / Clarisse Carra-Dalliere / Schmitt Perrine / Sanchez Pauline / Séverine Drunate / Hélène Cavé

    Romanian Journal of Neurology, Vol 21, Iss 2, Pp 115-

    2022  Volume 118

    Abstract: Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic ... ...

    Abstract Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T.
    Keywords polr3a-related leukodystrophy ; ataxo-spasmodic hypomyelinating leukodystrophy ; genetics ; new mutation variant c.3892-5c > t ; Medicine ; R ; Neurology. Diseases of the nervous system ; RC346-429
    Language English
    Publishing date 2022-06-01T00:00:00Z
    Publisher Amaltea Medical Publishing House
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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