Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia

Motoshi Sonoda, masataka ishimura, Yuko Shono, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shoichi Ohga

研究成果: ジャーナルへの寄稿記事

2 引用 (Scopus)

抄録

Diamond–Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman–Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

元の言語英語
ページ(範囲)228-231
ページ数4
ジャーナルInternational journal of hematology
108
発行部数2
DOI
出版物ステータス出版済み - 8 1 2018

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Anemia
Neonatal Anemia
Clonal Evolution
Chelation Therapy
Refractory Anemia
Pancytopenia
Ribosomal Proteins
Erythropoiesis
Iron
Bone Marrow
Newborn Infant
Phenotype
Mutation
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

  • Hematology

これを引用

Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia. / Sonoda, Motoshi; ishimura, masataka; Shono, Yuko; Terashi, Eiko; Eguchi, Katsuhide; Sakai, Yasunari; Takada, Hidetoshi; Hama, Asahito; Kanno, Hitoshi; Toki, Tsutomu; Ito, Etsuro; Ohga, Shoichi.

:: International journal of hematology, 巻 108, 番号 2, 01.08.2018, p. 228-231.

研究成果: ジャーナルへの寄稿記事

Sonoda, Motoshi ; ishimura, masataka ; Shono, Yuko ; Terashi, Eiko ; Eguchi, Katsuhide ; Sakai, Yasunari ; Takada, Hidetoshi ; Hama, Asahito ; Kanno, Hitoshi ; Toki, Tsutomu ; Ito, Etsuro ; Ohga, Shoichi. / Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia. :: International journal of hematology. 2018 ; 巻 108, 番号 2. pp. 228-231.
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abstract = "Diamond–Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman–Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.",
author = "Motoshi Sonoda and masataka ishimura and Yuko Shono and Eiko Terashi and Katsuhide Eguchi and Yasunari Sakai and Hidetoshi Takada and Asahito Hama and Hitoshi Kanno and Tsutomu Toki and Etsuro Ito and Shoichi Ohga",
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AU - Sonoda, Motoshi

AU - ishimura, masataka

AU - Shono, Yuko

AU - Terashi, Eiko

AU - Eguchi, Katsuhide

AU - Sakai, Yasunari

AU - Takada, Hidetoshi

AU - Hama, Asahito

AU - Kanno, Hitoshi

AU - Toki, Tsutomu

AU - Ito, Etsuro

AU - Ohga, Shoichi

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AB - Diamond–Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman–Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

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