Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia
Identifieur interne : 002A10 ( Main/Exploration ); précédent : 002A09; suivant : 002A11Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia
Auteurs : Tohru Fujiwara [Japon] ; Noriko Fukuhara [Japon] ; Ryo Funayama [Japon] ; Naoki Nariai [Japon] ; Mayumi Kamata [Japon] ; Takeshi Nagashima [Japon] ; Kaname Kojima [Japon] ; Yasushi Onishi [Japon] ; Yoji Sasahara [Japon] ; Kenichi Ishizawa [Japon] ; Masao Nagasaki [Japon] ; Keiko Nakayama [Japon] ; Hideo Harigae [Japon]Source :
- Annals of Hematology [ 0939-5555 ] ; 2014.
Abstract
Heterozygous
The online version of this article (doi:10.1007/s00277-014-2090-4) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1007/s00277-014-2090-4
PubMed: 24782121
PubMed Central: 4119934
Affiliations:
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sort="Kamata, Mayumi" uniqKey="Kamata M" first="Mayumi" last="Kamata">Mayumi Kamata</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Nagashima, Takeshi" sort="Nagashima, Takeshi" uniqKey="Nagashima T" first="Takeshi" last="Nagashima">Takeshi Nagashima</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and 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Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Funayama, Ryo" sort="Funayama, Ryo" uniqKey="Funayama R" first="Ryo" last="Funayama">Ryo Funayama</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Nariai, Naoki" sort="Nariai, Naoki" uniqKey="Nariai N" first="Naoki" last="Nariai">Naoki Nariai</name><affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea><orgName type="university">Université du Tōhoku</orgName><placeName><settlement type="city">Sendai</settlement><region type="province">Région de Tōhoku</region></placeName></affiliation></author><author><name sortKey="Kamata, Mayumi" sort="Kamata, Mayumi" uniqKey="Kamata M" first="Mayumi" last="Kamata">Mayumi Kamata</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Nagashima, Takeshi" sort="Nagashima, Takeshi" uniqKey="Nagashima T" first="Takeshi" last="Nagashima">Takeshi Nagashima</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Kojima, Kaname" sort="Kojima, Kaname" uniqKey="Kojima K" first="Kaname" last="Kojima">Kaname Kojima</name><affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea><orgName type="university">Université du Tōhoku</orgName><placeName><settlement type="city">Sendai</settlement><region type="province">Région de Tōhoku</region></placeName></affiliation></author><author><name sortKey="Onishi, Yasushi" sort="Onishi, Yasushi" uniqKey="Onishi Y" first="Yasushi" last="Onishi">Yasushi Onishi</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Sasahara, Yoji" sort="Sasahara, Yoji" uniqKey="Sasahara Y" first="Yoji" last="Sasahara">Yoji Sasahara</name><affiliation wicri:level="1"><nlm:aff id="Aff5">Department of Pediatrics, Tohoku University Graduate School, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University Graduate School, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Ishizawa, Kenichi" sort="Ishizawa, Kenichi" uniqKey="Ishizawa K" first="Kenichi" last="Ishizawa">Kenichi Ishizawa</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff6">Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Nagasaki, Masao" sort="Nagasaki, Masao" uniqKey="Nagasaki M" first="Masao" last="Nagasaki">Masao Nagasaki</name><affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea><orgName type="university">Université du Tōhoku</orgName><placeName><settlement type="city">Sendai</settlement><region type="province">Région de Tōhoku</region></placeName></affiliation></author><author><name sortKey="Nakayama, Keiko" sort="Nakayama, Keiko" uniqKey="Nakayama K" first="Keiko" last="Nakayama">Keiko Nakayama</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Harigae, Hideo" sort="Harigae, Hideo" uniqKey="Harigae H" first="Hideo" last="Harigae">Hideo Harigae</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author></analytic><series><title level="j">Annals of Hematology</title><idno type="ISSN">0939-5555</idno><idno type="eISSN">1432-0584</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Heterozygous <italic>GATA</italic>-<italic>2</italic> germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). However, there is considerable clinical heterogeneity among patients, and the molecular basis for the evolution of immunodeficiency into MDS/AML remains unknown. Thus, we conducted whole-genome sequencing on a patient with a germline GATA-2 heterozygous mutation (c. 988 C > T; p. R330X), who had a history suggestive of immunodeficiency and evolved into MDS/AML. Analysis was conducted with DNA samples from leukocytes for immunodeficiency, bone marrow mononuclear cells for MDS and bone marrow-derived mesenchymal stem cells. Whereas we did not identify a candidate genomic deletion that may contribute to the evolution into MDS, a total of 280 MDS-specific nonsynonymous single nucleotide variants were identified. By narrowing down with the single nucleotide polymorphism database, the functional missense database, and NCBI information, we finally identified three candidate mutations for <italic>EZH2</italic>, <italic>HECW2</italic> and <italic>GATA</italic>-<italic>1</italic>, which may contribute to the evolution of the disease.</p><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1007/s00277-014-2090-4) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bresnick, Eh" uniqKey="Bresnick E">EH Bresnick</name></author><author><name sortKey="Lee, Hy" uniqKey="Lee H">HY Lee</name></author><author><name sortKey="Fujiwara, T" uniqKey="Fujiwara T">T Fujiwara</name></author><author><name sortKey="Johnson, Kd" uniqKey="Johnson K">KD Johnson</name></author><author><name sortKey="Keles, S" uniqKey="Keles S">S 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Thonel A">A de Thonel</name></author><author><name sortKey="Pierre Eugene, C" uniqKey="Pierre Eugene C">C Pierre-Eugène</name></author><author><name sortKey="Sternberg, A" uniqKey="Sternberg A">A Sternberg</name></author><author><name sortKey="Arlet, Jb" uniqKey="Arlet J">JB Arlet</name></author><author><name sortKey="Floquet, C" uniqKey="Floquet C">C Floquet</name></author><author><name sortKey="Gyan, E" uniqKey="Gyan E">E Gyan</name></author><author><name sortKey="Kosmider, O" uniqKey="Kosmider O">O Kosmider</name></author><author><name sortKey="Dreyfus, F" uniqKey="Dreyfus F">F Dreyfus</name></author><author><name sortKey="Gabet, As" uniqKey="Gabet A">AS Gabet</name></author><author><name sortKey="Courtois, G" uniqKey="Courtois G">G Courtois</name></author><author><name sortKey="Vyas, P" uniqKey="Vyas P">P Vyas</name></author><author><name sortKey="Ribeil, Ja" uniqKey="Ribeil J">JA Ribeil</name></author><author><name sortKey="Zermati, Y" uniqKey="Zermati Y">Y Zermati</name></author><author><name sortKey="Lacombe, C" uniqKey="Lacombe C">C Lacombe</name></author><author><name sortKey="Mayeux, P" uniqKey="Mayeux P">P Mayeux</name></author><author><name sortKey="Solary, E" uniqKey="Solary E">E Solary</name></author><author><name sortKey="Garrido, C" uniqKey="Garrido C">C Garrido</name></author><author><name sortKey="Hermine, O" uniqKey="Hermine O">O Hermine</name></author><author><name sortKey="Fontenay, M" uniqKey="Fontenay M">M Fontenay</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Japon</li></country><region><li>Région de Tōhoku</li></region><settlement><li>Sendai</li></settlement><orgName><li>Université du Tōhoku</li></orgName></list><tree><country name="Japon"><noRegion><name sortKey="Fujiwara, Tohru" sort="Fujiwara, Tohru" uniqKey="Fujiwara T" first="Tohru" last="Fujiwara">Tohru Fujiwara</name></noRegion><name sortKey="Fujiwara, Tohru" sort="Fujiwara, Tohru" uniqKey="Fujiwara T" first="Tohru" last="Fujiwara">Tohru Fujiwara</name><name sortKey="Fukuhara, Noriko" sort="Fukuhara, Noriko" uniqKey="Fukuhara N" first="Noriko" last="Fukuhara">Noriko Fukuhara</name><name sortKey="Funayama, Ryo" sort="Funayama, Ryo" uniqKey="Funayama R" first="Ryo" last="Funayama">Ryo Funayama</name><name sortKey="Harigae, Hideo" sort="Harigae, Hideo" uniqKey="Harigae H" first="Hideo" last="Harigae">Hideo Harigae</name><name sortKey="Harigae, Hideo" sort="Harigae, Hideo" uniqKey="Harigae H" first="Hideo" last="Harigae">Hideo Harigae</name><name sortKey="Ishizawa, Kenichi" sort="Ishizawa, Kenichi" uniqKey="Ishizawa K" first="Kenichi" last="Ishizawa">Kenichi Ishizawa</name><name sortKey="Ishizawa, Kenichi" sort="Ishizawa, Kenichi" uniqKey="Ishizawa K" first="Kenichi" last="Ishizawa">Kenichi Ishizawa</name><name sortKey="Kamata, Mayumi" sort="Kamata, Mayumi" uniqKey="Kamata M" first="Mayumi" last="Kamata">Mayumi Kamata</name><name sortKey="Kojima, Kaname" sort="Kojima, Kaname" uniqKey="Kojima K" first="Kaname" last="Kojima">Kaname Kojima</name><name sortKey="Nagasaki, Masao" sort="Nagasaki, Masao" uniqKey="Nagasaki M" first="Masao" last="Nagasaki">Masao Nagasaki</name><name sortKey="Nagashima, Takeshi" sort="Nagashima, Takeshi" uniqKey="Nagashima T" first="Takeshi" last="Nagashima">Takeshi Nagashima</name><name sortKey="Nakayama, Keiko" sort="Nakayama, Keiko" uniqKey="Nakayama K" first="Keiko" last="Nakayama">Keiko Nakayama</name><name sortKey="Nariai, Naoki" sort="Nariai, Naoki" uniqKey="Nariai N" first="Naoki" last="Nariai">Naoki Nariai</name><name sortKey="Onishi, Yasushi" sort="Onishi, Yasushi" uniqKey="Onishi Y" first="Yasushi" last="Onishi">Yasushi Onishi</name><name sortKey="Sasahara, Yoji" sort="Sasahara, Yoji" uniqKey="Sasahara Y" first="Yoji" last="Sasahara">Yoji Sasahara</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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