Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
Identifieur interne : 000A89 ( Main/Exploration ); précédent : 000A88; suivant : 000A90Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
Auteurs : Satoshi Saida [Japon] ; Katsutsugu Umeda [Japon] ; Takahiro Yasumi [Japon] ; Akane Matsumoto [Japon] ; Itaru Kato [Japon] ; Hidefumi Hiramatsu [Japon] ; Osamu Ohara [Japon] ; Toshio Heike [Japon] ; Souichi Adachi [Japon]Source :
- Pediatric transplantation [ 1399-3046 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Antigènes HLA (génétique), Caryotypage, Cellules de la moelle osseuse (cytologie), Facteur de transcription GATA-2 (déficit), Femelle, Humains, Japon, Mutation, Mâle, Pedigree, Phénotype, Pédiatrie, Résultat thérapeutique, Syndromes myélodysplasiques (), Transplantation de cellules souches, Évolution de la maladie.
- MESH :
- cytologie : Cellules de la moelle osseuse.
- déficit : Facteur de transcription GATA-2.
- génétique : Antigènes HLA.
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Caryotypage, Femelle, Humains, Japon, Mutation, Mâle, Pedigree, Phénotype, Pédiatrie, Résultat thérapeutique, Syndromes myélodysplasiques, Transplantation de cellules souches, Évolution de la maladie.
English descriptors
- KwdEn :
- Adolescent, Adult, Bone Marrow Cells (cytology), Disease Progression, Female, GATA2 Transcription Factor (deficiency), HLA Antigens (genetics), Humans, Japan, Karyotyping, Male, Middle Aged, Mutation, Myelodysplastic Syndromes (therapy), Pediatrics, Pedigree, Phenotype, Sequence Analysis, DNA, Stem Cell Transplantation, Treatment Outcome.
- MESH :
- chemical , deficiency : GATA2 Transcription Factor.
- cytology : Bone Marrow Cells.
- chemical , genetics : HLA Antigens.
- therapy : Myelodysplastic Syndromes.
- Adolescent, Adult, Disease Progression, Female, Humans, Japan, Karyotyping, Male, Middle Aged, Mutation, Pediatrics, Pedigree, Phenotype, Sequence Analysis, DNA, Stem Cell Transplantation, Treatment Outcome.
Abstract
A 13-yr-old boy bearing lymphedema and congenital deafness had distinct hematological abnormalities consisting of reduced monocytes, B cells, and dendritic cells in the peripheral blood as well as MDS with normal karyotype in the bone marrow. The patient was diagnosed with Emberger syndrome by sequencing of GATA2 DNA, and underwent RIST from an HLA-matched unrelated donor. Prompt engraftment and immunological reconstitution were observed without any severe RRT. As most patients with GATA2 anomaly died due to the development of AML or active infections, RIST could be a promising treatment option before progression of advanced MDS.
DOI: 10.1111/petr.12667
PubMed: 26748574
Affiliations:
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deficiency before progression of advanced MDS.</title><author><name sortKey="Saida, Satoshi" sort="Saida, Satoshi" uniqKey="Saida S" first="Satoshi" last="Saida">Satoshi Saida</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author><author><name sortKey="Umeda, Katsutsugu" sort="Umeda, Katsutsugu" uniqKey="Umeda K" first="Katsutsugu" last="Umeda">Katsutsugu Umeda</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author><author><name sortKey="Yasumi, Takahiro" sort="Yasumi, Takahiro" uniqKey="Yasumi T" first="Takahiro" last="Yasumi">Takahiro Yasumi</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author><author><name sortKey="Matsumoto, Akane" sort="Matsumoto, Akane" uniqKey="Matsumoto A" first="Akane" last="Matsumoto">Akane Matsumoto</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author><author><name sortKey="Kato, Itaru" sort="Kato, Itaru" uniqKey="Kato I" first="Itaru" last="Kato">Itaru Kato</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, 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Ohara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu</wicri:regionArea><wicri:noRegion>Kisarazu</wicri:noRegion></affiliation></author><author><name sortKey="Heike, Toshio" sort="Heike, Toshio" uniqKey="Heike T" first="Toshio" last="Heike">Toshio Heike</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author><author><name sortKey="Adachi, Souichi" sort="Adachi, Souichi" uniqKey="Adachi S" first="Souichi" last="Adachi">Souichi Adachi</name><affiliation wicri:level="4"><nlm:affiliation>Institute Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Institute Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author></analytic><series><title level="j">Pediatric transplantation</title><idno type="eISSN">1399-3046</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Bone Marrow Cells (cytology)</term><term>Disease Progression</term><term>Female</term><term>GATA2 Transcription Factor (deficiency)</term><term>HLA Antigens (genetics)</term><term>Humans</term><term>Japan</term><term>Karyotyping</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Myelodysplastic Syndromes (therapy)</term><term>Pediatrics</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, DNA</term><term>Stem Cell Transplantation</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Antigènes HLA (génétique)</term><term>Caryotypage</term><term>Cellules de la moelle osseuse (cytologie)</term><term>Facteur de transcription GATA-2 (déficit)</term><term>Femelle</term><term>Humains</term><term>Japon</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Pédiatrie</term><term>Résultat thérapeutique</term><term>Syndromes myélodysplasiques ()</term><term>Transplantation de cellules souches</term><term>Évolution de la maladie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" qualifier="cytologie" xml:lang="fr"><term>Cellules de la moelle osseuse</term></keywords><keywords scheme="MESH" qualifier="cytology" xml:lang="en"><term>Bone Marrow Cells</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Facteur de transcription GATA-2</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>HLA Antigens</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes HLA</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Myelodysplastic Syndromes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Japan</term><term>Karyotyping</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pediatrics</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, DNA</term><term>Stem Cell Transplantation</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Caryotypage</term><term>Femelle</term><term>Humains</term><term>Japon</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Pédiatrie</term><term>Résultat thérapeutique</term><term>Syndromes myélodysplasiques</term><term>Transplantation de cellules souches</term><term>Évolution de la maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 13-yr-old boy bearing lymphedema and congenital deafness had distinct hematological abnormalities consisting of reduced monocytes, B cells, and dendritic cells in the peripheral blood as well as MDS with normal karyotype in the bone marrow. The patient was diagnosed with Emberger syndrome by sequencing of GATA2 DNA, and underwent RIST from an HLA-matched unrelated donor. Prompt engraftment and immunological reconstitution were observed without any severe RRT. As most patients with GATA2 anomaly died due to the development of AML or active infections, RIST could be a promising treatment option before progression of advanced MDS.</div></front></TEI><affiliations><list><country><li>Japon</li></country><region><li>Région du Kansai</li></region><settlement><li>Kyoto</li></settlement><orgName><li>Université de Kyoto</li></orgName></list><tree><country name="Japon"><region name="Région du Kansai"><name sortKey="Saida, Satoshi" sort="Saida, Satoshi" uniqKey="Saida S" first="Satoshi" last="Saida">Satoshi Saida</name></region><name sortKey="Adachi, Souichi" sort="Adachi, Souichi" uniqKey="Adachi S" first="Souichi" last="Adachi">Souichi Adachi</name><name sortKey="Heike, Toshio" sort="Heike, Toshio" uniqKey="Heike T" first="Toshio" last="Heike">Toshio Heike</name><name sortKey="Hiramatsu, Hidefumi" sort="Hiramatsu, Hidefumi" uniqKey="Hiramatsu H" first="Hidefumi" last="Hiramatsu">Hidefumi Hiramatsu</name><name sortKey="Kato, Itaru" sort="Kato, Itaru" uniqKey="Kato I" first="Itaru" last="Kato">Itaru Kato</name><name sortKey="Matsumoto, Akane" sort="Matsumoto, Akane" uniqKey="Matsumoto A" first="Akane" last="Matsumoto">Akane Matsumoto</name><name sortKey="Ohara, Osamu" sort="Ohara, Osamu" uniqKey="Ohara O" first="Osamu" last="Ohara">Osamu Ohara</name><name sortKey="Umeda, Katsutsugu" sort="Umeda, Katsutsugu" uniqKey="Umeda K" first="Katsutsugu" last="Umeda">Katsutsugu Umeda</name><name sortKey="Yasumi, Takahiro" sort="Yasumi, Takahiro" uniqKey="Yasumi T" first="Takahiro" last="Yasumi">Takahiro Yasumi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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