Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
Identifieur interne : 001602 ( Main/Exploration ); précédent : 001601; suivant : 001603Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
Auteurs : Anna Lübking [Suède] ; Sebastian Vosberg [Allemagne] ; Nikola P. Konstandin [Allemagne] ; Annika Dufour [Allemagne] ; Alexander Graf [Allemagne] ; Stefan Krebs [Allemagne] ; Helmut Blum [Allemagne] ; Axel Weber [Allemagne] ; Stig Lenhoff [Suède] ; Mats Ehinger [Suède] ; Karsten Spiekermann [Allemagne] ; Philipp A. Greif [Allemagne] ; Jörg Cammenga [Suède]Source :
- Leukemia Research Reports [ 2213-0489 ] ; 2015.
Abstract
Heterozygous mutations in
We describe a case of symptomatic DCML deficiency and rather discrete bone marrow findings due to
Url:
DOI: 10.1016/j.lrr.2015.10.001
PubMed: 26716079
PubMed Central: 4672090
Affiliations:
- Allemagne, Suède
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Karlsruhe
- Heidelberg, Munich
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dysplasia, <italic>GATA2</italic> and <italic>ASXL1</italic> mutation treated with allogeneic hematopoietic stem cell transplantation</title><author><name sortKey="Lubking, Anna" sort="Lubking, Anna" uniqKey="Lubking A" first="Anna" last="Lübking">Anna Lübking</name><affiliation wicri:level="1"><nlm:aff id="aff0005">Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund</wicri:regionArea><wicri:noRegion>22185 Lund</wicri:noRegion></affiliation></author><author><name sortKey="Vosberg, Sebastian" sort="Vosberg, Sebastian" uniqKey="Vosberg S" first="Sebastian" last="Vosberg">Sebastian Vosberg</name><affiliation wicri:level="3"><nlm:aff id="aff0010">Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff0020">German Cancer Consortium (DKTK), Heidelberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Cancer Consortium (DKTK), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff0025">German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Cancer Research Center (DKFZ), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Konstandin, Nikola P" sort="Konstandin, Nikola P" uniqKey="Konstandin N" first="Nikola P." last="Konstandin">Nikola P. Konstandin</name><affiliation wicri:level="3"><nlm:aff id="aff0010">Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Dufour, Annika" sort="Dufour, Annika" uniqKey="Dufour A" first="Annika" last="Dufour">Annika Dufour</name><affiliation wicri:level="3"><nlm:aff id="aff0010">Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich</wicri:regionArea><placeName><region type="land" 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wicri:level="3"><nlm:aff id="aff0015">Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Blum, Helmut" sort="Blum, Helmut" uniqKey="Blum H" first="Helmut" last="Blum">Helmut Blum</name><affiliation wicri:level="3"><nlm:aff id="aff0015">Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität 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wicri:level="1"><nlm:aff id="aff0005">Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund</wicri:regionArea><wicri:noRegion>22185 Lund</wicri:noRegion></affiliation></author><author><name sortKey="Ehinger, Mats" sort="Ehinger, Mats" uniqKey="Ehinger M" first="Mats" last="Ehinger">Mats Ehinger</name><affiliation wicri:level="1"><nlm:aff id="aff0040">Department of Pathology, Skåne University Hospital, 22185 Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Pathology, Skåne University Hospital, 22185 Lund</wicri:regionArea><wicri:noRegion>22185 Lund</wicri:noRegion></affiliation></author><author><name sortKey="Spiekermann, Karsten" sort="Spiekermann, Karsten" uniqKey="Spiekermann K" first="Karsten" last="Spiekermann">Karsten Spiekermann</name><affiliation wicri:level="3"><nlm:aff id="aff0010">Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff0020">German Cancer Consortium (DKTK), Heidelberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Cancer Consortium (DKTK), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff0025">German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Cancer Research Center (DKFZ), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Greif, Philipp A" sort="Greif, Philipp A" uniqKey="Greif P" first="Philipp A." last="Greif">Philipp A. Greif</name><affiliation wicri:level="3"><nlm:aff id="aff0010">Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff0020">German Cancer Consortium (DKTK), Heidelberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Cancer Consortium (DKTK), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff0025">German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Cancer Research Center (DKFZ), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Cammenga, Jorg" sort="Cammenga, Jorg" uniqKey="Cammenga J" first="Jörg" last="Cammenga">Jörg Cammenga</name><affiliation wicri:level="1"><nlm:aff id="aff0005">Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund</wicri:regionArea><wicri:noRegion>22185 Lund</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff0035">Department of Molecular Medicine and Gene Therapy, Sölvegatan 17, BMC A12, Lund University, 22184 Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Molecular Medicine and Gene Therapy, Sölvegatan 17, BMC A12, Lund University, 22184 Lund</wicri:regionArea><wicri:noRegion>22184 Lund</wicri:noRegion></affiliation></author></analytic><series><title level="j">Leukemia Research Reports</title><idno type="eISSN">2213-0489</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Heterozygous mutations in <italic>GATA2</italic> underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset and severity of clinical symptoms vary and preceding cytopenias are not always present.</p><p>We describe a case of symptomatic DCML deficiency and rather discrete bone marrow findings due to <italic>GATA2</italic> mutation. Exome sequencing revealed a somatic <italic>ASXL1</italic> mutation and the patient underwent allogeneic stem cell transplantation successfully.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hsu, A P" uniqKey="Hsu A">A.P. Hsu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dickinson, R E" uniqKey="Dickinson R">R.E. Dickinson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hahn, C N" uniqKey="Hahn C">C.N. Hahn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Spinner, M A" uniqKey="Spinner M">M.A. Spinner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Holme, H" uniqKey="Holme H">H. Holme</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kazenwadel, J" uniqKey="Kazenwadel J">J. Kazenwadel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Opatz, S" uniqKey="Opatz S">S. Opatz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Greif, P A" uniqKey="Greif P">P.A. Greif</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ren, J" uniqKey="Ren J">J. Ren</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thorvaldsdottir, H" uniqKey="Thorvaldsdottir H">H. Thorvaldsdottir</name></author><author><name sortKey="Robinson, J T" uniqKey="Robinson J">J.T. Robinson</name></author><author><name sortKey="Mesirov, J P" uniqKey="Mesirov J">J.P. Mesirov</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dickinson, R E" uniqKey="Dickinson R">R.E. Dickinson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bodor, C" uniqKey="Bodor C">C. Bodor</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="West, R R" uniqKey="West R">R.R. West</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Micol, J B" uniqKey="Micol J">J.B. Micol</name></author><author><name sortKey="Abdel Wahab, O" uniqKey="Abdel Wahab O">O. Abdel-Wahab</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Suède</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Karlsruhe</li></region><settlement><li>Heidelberg</li><li>Munich</li></settlement></list><tree><country name="Suède"><noRegion><name sortKey="Lubking, Anna" sort="Lubking, Anna" uniqKey="Lubking A" first="Anna" last="Lübking">Anna Lübking</name></noRegion><name sortKey="Cammenga, Jorg" sort="Cammenga, Jorg" uniqKey="Cammenga J" first="Jörg" last="Cammenga">Jörg Cammenga</name><name sortKey="Cammenga, Jorg" sort="Cammenga, Jorg" uniqKey="Cammenga J" first="Jörg" last="Cammenga">Jörg Cammenga</name><name sortKey="Ehinger, Mats" sort="Ehinger, Mats" uniqKey="Ehinger M" first="Mats" last="Ehinger">Mats Ehinger</name><name sortKey="Lenhoff, Stig" sort="Lenhoff, Stig" uniqKey="Lenhoff S" first="Stig" last="Lenhoff">Stig Lenhoff</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Vosberg, Sebastian" sort="Vosberg, Sebastian" uniqKey="Vosberg S" first="Sebastian" last="Vosberg">Sebastian Vosberg</name></region><name sortKey="Blum, Helmut" sort="Blum, Helmut" uniqKey="Blum H" first="Helmut" last="Blum">Helmut Blum</name><name sortKey="Blum, Helmut" sort="Blum, Helmut" uniqKey="Blum H" first="Helmut" last="Blum">Helmut Blum</name><name sortKey="Blum, Helmut" sort="Blum, Helmut" uniqKey="Blum H" first="Helmut" last="Blum">Helmut Blum</name><name sortKey="Dufour, Annika" sort="Dufour, Annika" uniqKey="Dufour A" first="Annika" last="Dufour">Annika Dufour</name><name sortKey="Graf, Alexander" sort="Graf, Alexander" uniqKey="Graf A" first="Alexander" last="Graf">Alexander Graf</name><name sortKey="Greif, Philipp A" sort="Greif, Philipp A" uniqKey="Greif P" first="Philipp A." last="Greif">Philipp A. Greif</name><name sortKey="Greif, Philipp A" sort="Greif, Philipp A" uniqKey="Greif P" first="Philipp A." last="Greif">Philipp A. Greif</name><name sortKey="Greif, Philipp A" sort="Greif, Philipp A" uniqKey="Greif P" first="Philipp A." last="Greif">Philipp A. Greif</name><name sortKey="Konstandin, Nikola P" sort="Konstandin, Nikola P" uniqKey="Konstandin N" first="Nikola P." last="Konstandin">Nikola P. Konstandin</name><name sortKey="Krebs, Stefan" sort="Krebs, Stefan" uniqKey="Krebs S" first="Stefan" last="Krebs">Stefan Krebs</name><name sortKey="Spiekermann, Karsten" sort="Spiekermann, Karsten" uniqKey="Spiekermann K" first="Karsten" last="Spiekermann">Karsten Spiekermann</name><name sortKey="Spiekermann, Karsten" sort="Spiekermann, Karsten" uniqKey="Spiekermann K" first="Karsten" last="Spiekermann">Karsten Spiekermann</name><name sortKey="Spiekermann, Karsten" sort="Spiekermann, Karsten" uniqKey="Spiekermann K" first="Karsten" last="Spiekermann">Karsten Spiekermann</name><name sortKey="Vosberg, Sebastian" sort="Vosberg, Sebastian" uniqKey="Vosberg S" first="Sebastian" last="Vosberg">Sebastian Vosberg</name><name sortKey="Vosberg, Sebastian" sort="Vosberg, Sebastian" uniqKey="Vosberg S" first="Sebastian" last="Vosberg">Sebastian Vosberg</name><name sortKey="Weber, Axel" sort="Weber, Axel" uniqKey="Weber A" first="Axel" last="Weber">Axel Weber</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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