Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations
Identifieur interne : 001820 ( Main/Exploration ); précédent : 001819; suivant : 001821Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations
Auteurs : Muhammad A. Mir [États-Unis] ; Samith T. Kochuparambil [États-Unis] ; Roshini S. Abraham [États-Unis] ; Vilmarie Rodriguez [États-Unis] ; Matthew Howard [États-Unis] ; Amy P. Hsu [États-Unis] ; Amie E. Jackson [États-Unis] ; Steven M. Holland [États-Unis] ; Mrinal M. Patnaik [États-Unis]Source :
- Cancer Medicine [ 2045-7634 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : GATA2 Transcription Factor.
- genetics : Germ-Line Mutation, Hematologic Neoplasms, Immunologic Deficiency Syndromes.
- methods : Hematopoietic Stem Cell Transplantation.
- therapy : Hematologic Neoplasms.
- Adult, Child, Female, Genetic Counseling, Humans, Male.
Abstract
Guanine-adenine-thymine-adenine 2 (
Url:
DOI: 10.1002/cam4.384
PubMed: 25619630
PubMed Central: 4402062
Affiliations:
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Mir</name><affiliation wicri:level="2"><nlm:aff id="au1"><institution>Penn State Milton S. Hershey Cancer Institute</institution><addr-line>Hershey, Pennsylvania</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Hershey</wicri:cityArea></affiliation></author><author><name sortKey="Kochuparambil, Samith T" sort="Kochuparambil, Samith T" uniqKey="Kochuparambil S" first="Samith T" last="Kochuparambil">Samith T. Kochuparambil</name><affiliation wicri:level="2"><nlm:aff id="au2"><institution>Division of Hematology, Blood & Marrow Transplant, Mayo Clinic</institution><addr-line>Rochester, Minnesota</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Abraham, Roshini S" sort="Abraham, Roshini S" uniqKey="Abraham R" first="Roshini S" last="Abraham">Roshini S. Abraham</name><affiliation wicri:level="2"><nlm:aff id="au3"><institution>Divisions of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology, Mayo Clinic</institution><addr-line>Rochester, Minnesota</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Rodriguez, Vilmarie" sort="Rodriguez, Vilmarie" uniqKey="Rodriguez V" first="Vilmarie" last="Rodriguez">Vilmarie Rodriguez</name><affiliation wicri:level="2"><nlm:aff id="au4"><institution>Division of Pediatric Hematology/Oncology, Mayo Clinic</institution><addr-line>Rochester, Minnesota</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Howard, Matthew" sort="Howard, Matthew" uniqKey="Howard M" first="Matthew" last="Howard">Matthew Howard</name><affiliation wicri:level="2"><nlm:aff id="au3"><institution>Divisions of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology, Mayo Clinic</institution><addr-line>Rochester, Minnesota</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P" last="Hsu">Amy P. Hsu</name><affiliation wicri:level="2"><nlm:aff id="au5"><institution>Laboratory of Clinical Infectious Diseases, National Institutes of Health</institution><addr-line>Bethesda, Maryland</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Jackson, Amie E" sort="Jackson, Amie E" uniqKey="Jackson A" first="Amie E" last="Jackson">Amie E. Jackson</name><affiliation wicri:level="2"><nlm:aff id="au2"><institution>Division of Hematology, Blood & Marrow Transplant, Mayo Clinic</institution><addr-line>Rochester, Minnesota</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M" last="Holland">Steven M. Holland</name><affiliation wicri:level="2"><nlm:aff id="au5"><institution>Laboratory of Clinical Infectious Diseases, National Institutes of Health</institution><addr-line>Bethesda, Maryland</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Patnaik, Mrinal M" sort="Patnaik, Mrinal M" uniqKey="Patnaik M" first="Mrinal M" last="Patnaik">Mrinal M. Patnaik</name><affiliation wicri:level="2"><nlm:aff id="au2"><institution>Division of Hematology, Blood & Marrow Transplant, Mayo Clinic</institution><addr-line>Rochester, Minnesota</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Rochester</wicri:cityArea></affiliation></author></analytic><series><title level="j">Cancer Medicine</title><idno type="ISSN">2045-7634</idno><idno type="eISSN">2045-7634</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Child</term><term>Female</term><term>GATA2 Transcription Factor (genetics)</term><term>Genetic Counseling</term><term>Germ-Line Mutation (genetics)</term><term>Hematologic Neoplasms (genetics)</term><term>Hematologic Neoplasms (therapy)</term><term>Hematopoietic Stem Cell Transplantation (methods)</term><term>Humans</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Male</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Conseil génétique</term><term>Déficits immunitaires (génétique)</term><term>Enfant</term><term>Facteur de transcription GATA-2 (génétique)</term><term>Femelle</term><term>Humains</term><term>Mutation germinale (génétique)</term><term>Mâle</term><term>Transplantation de cellules souches hématopoïétiques ()</term><term>Tumeurs hématologiques ()</term><term>Tumeurs hématologiques (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Germ-Line Mutation</term><term>Hematologic Neoplasms</term><term>Immunologic Deficiency Syndromes</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficits immunitaires</term><term>Facteur de transcription GATA-2</term><term>Mutation germinale</term><term>Tumeurs hématologiques</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Hematopoietic Stem Cell Transplantation</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Hematologic Neoplasms</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>Female</term><term>Genetic Counseling</term><term>Humans</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Conseil génétique</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Transplantation de cellules souches hématopoïétiques</term><term>Tumeurs hématologiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Guanine-adenine-thymine-adenine 2 (<italic>GATA2</italic>) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and <italic>Mycobacterium avium</italic> complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Simon, Mc" uniqKey="Simon M">MC Simon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bresnick, Eh" uniqKey="Bresnick E">EH Bresnick</name></author><author><name sortKey="Katsumura, Kr" uniqKey="Katsumura K">KR Katsumura</name></author><author><name sortKey="Lee, Hy" uniqKey="Lee H">HY Lee</name></author><author><name sortKey="Johnson, Kd" uniqKey="Johnson K">KD Johnson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pevny, L" uniqKey="Pevny L">L Pevny</name></author><author><name sortKey="Simon, Mc" uniqKey="Simon M">MC Simon</name></author><author><name sortKey="Robertson, E" uniqKey="Robertson E">E Robertson</name></author><author><name sortKey="Klein, Wh" uniqKey="Klein W">WH 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sortKey="Simpson, Ma" uniqKey="Simpson M">MA Simpson</name></author><author><name sortKey="Roukens, Mg" uniqKey="Roukens M">MG Roukens</name></author><author><name sortKey="Van Impel, A" uniqKey="Van Impel A">A van Impel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Itoh, M" uniqKey="Itoh M">M Itoh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mendola, A" uniqKey="Mendola A">A Mendola</name></author><author><name sortKey="Schlogel, Mj" uniqKey="Schlogel M">MJ Schlogel</name></author><author><name sortKey="Ghalamkarpour, A" uniqKey="Ghalamkarpour A">A Ghalamkarpour</name></author><author><name sortKey="Irrthum, A" uniqKey="Irrthum A">A Irrthum</name></author><author><name sortKey="Nguyen, Hl" uniqKey="Nguyen H">HL Nguyen</name></author><author><name sortKey="Fastre, E" uniqKey="Fastre E">E Fastre</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shah, S" uniqKey="Shah S">S Shah</name></author><author><name sortKey="Conlin, Lk" uniqKey="Conlin L">LK Conlin</name></author><author><name sortKey="Gomez, L" uniqKey="Gomez L">L Gomez</name></author><author><name sortKey="Aagenaes, O" uniqKey="Aagenaes O">O Aagenaes</name></author><author><name sortKey="Eiklid, K" uniqKey="Eiklid K">K Eiklid</name></author><author><name sortKey="Knisely, As" uniqKey="Knisely A">AS Knisely</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tanaka, T" uniqKey="Tanaka T">T Tanaka</name></author><author><name sortKey="Motoi, N" uniqKey="Motoi N">N Motoi</name></author><author><name sortKey="Tsuchihashi, Y" uniqKey="Tsuchihashi Y">Y Tsuchihashi</name></author><author><name sortKey="Tazawa, R" uniqKey="Tazawa R">R Tazawa</name></author><author><name sortKey="Kaneko, C" uniqKey="Kaneko C">C Kaneko</name></author><author><name sortKey="Nei, T" uniqKey="Nei T">T Nei</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hyde, Rk" uniqKey="Hyde R">RK Hyde</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li><li>Minnesota</li><li>Pennsylvanie</li></region></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Mir, Muhammad A" sort="Mir, Muhammad A" uniqKey="Mir M" first="Muhammad A" last="Mir">Muhammad A. Mir</name></region><name sortKey="Abraham, Roshini S" sort="Abraham, Roshini S" uniqKey="Abraham R" first="Roshini S" last="Abraham">Roshini S. Abraham</name><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M" last="Holland">Steven M. Holland</name><name sortKey="Howard, Matthew" sort="Howard, Matthew" uniqKey="Howard M" first="Matthew" last="Howard">Matthew Howard</name><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P" last="Hsu">Amy P. Hsu</name><name sortKey="Jackson, Amie E" sort="Jackson, Amie E" uniqKey="Jackson A" first="Amie E" last="Jackson">Amie E. Jackson</name><name sortKey="Kochuparambil, Samith T" sort="Kochuparambil, Samith T" uniqKey="Kochuparambil S" first="Samith T" last="Kochuparambil">Samith T. Kochuparambil</name><name sortKey="Patnaik, Mrinal M" sort="Patnaik, Mrinal M" uniqKey="Patnaik M" first="Mrinal M" last="Patnaik">Mrinal M. Patnaik</name><name sortKey="Rodriguez, Vilmarie" sort="Rodriguez, Vilmarie" uniqKey="Rodriguez V" first="Vilmarie" last="Rodriguez">Vilmarie Rodriguez</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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