Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2021-06-25

AUTHORS

Jean Pegliasco, Pierre Hirsch, Christophe Marzac, Françoise Isnard, Jean-Côme Meniane, Caroline Deswarte, Philippe Pellet, Céline Lemaitre, Gwendoline Leroy, Graciela Rabadan Moraes, Hélène Guermouche, Barbara Schmaltz-Panneau, Florence Pasquier, Chrystelle Colas, Patrick R. Benusiglio, Odile Bera, Jean-Henri Bourhis, Eolia Brissot, Olivier Caron, Samy Chraibi, Pascale Cony-Makhoul, Christine Delaunay-Darivon, Simona Lapusan, Flore Sicre de Fontbrune, Pascal Fuseau, Albert Najman, William Vainchenker, François Delhommeau, Jean-Baptiste Micol, Isabelle Plo, Christine Bellanné-Chantelot

ABSTRACT

The germline predisposition associated with the autosomal dominant inheritance of the 14q32 duplication implicating ATG2B/GSKIP genes is characterized by a wide clinical spectrum of myeloid neoplasms. We analyzed 12 asymptomatic carriers and 52 patients aged 18–74 years from six families, by targeted sequencing of 41 genes commonly mutated in myeloid malignancies. We found that 75% of healthy carriers displayed early clonal hematopoiesis mainly driven by TET2 mutations. Molecular landscapes of patients revealed two distinct routes of clonal expansion and leukemogenesis. The first route is characterized by the clonal dominance of myeloproliferative neoplasms (MPN)-driver events associated with TET2 mutations in half of cases and mutations affecting splicing and/or the RAS pathway in one-third of cases, leading to the early development of MPN, mostly essential thrombocythemia, with a high risk of transformation (50% after 10 years). The second route is distinguished by the absence of MPN-driver mutations and leads to AML without prior MPN. These patients mostly harbored a genomic landscape specific to acute myeloid leukemia secondary to myelodysplastic syndrome. An unexpected result was the total absence of DNMT3A mutations in this cohort. Our results suggest that the germline duplication constitutively mimics hematopoiesis aging by favoring TET2 clonal hematopoiesis. More... »

PAGES

126-137

References to SciGraph publications

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  • Journal

    TITLE

    Leukemia

    ISSUE

    1

    VOLUME

    36

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41375-021-01319-w

    DOI

    http://dx.doi.org/10.1038/s41375-021-01319-w

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1139147575

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34172895


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    48 schema:description The germline predisposition associated with the autosomal dominant inheritance of the 14q32 duplication implicating ATG2B/GSKIP genes is characterized by a wide clinical spectrum of myeloid neoplasms. We analyzed 12 asymptomatic carriers and 52 patients aged 18–74 years from six families, by targeted sequencing of 41 genes commonly mutated in myeloid malignancies. We found that 75% of healthy carriers displayed early clonal hematopoiesis mainly driven by TET2 mutations. Molecular landscapes of patients revealed two distinct routes of clonal expansion and leukemogenesis. The first route is characterized by the clonal dominance of myeloproliferative neoplasms (MPN)-driver events associated with TET2 mutations in half of cases and mutations affecting splicing and/or the RAS pathway in one-third of cases, leading to the early development of MPN, mostly essential thrombocythemia, with a high risk of transformation (50% after 10 years). The second route is distinguished by the absence of MPN-driver mutations and leads to AML without prior MPN. These patients mostly harbored a genomic landscape specific to acute myeloid leukemia secondary to myelodysplastic syndrome. An unexpected result was the total absence of DNMT3A mutations in this cohort. Our results suggest that the germline duplication constitutively mimics hematopoiesis aging by favoring TET2 clonal hematopoiesis.
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