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 |
| 巻 | 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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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
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TY - JOUR
T1 - Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
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
PY - 2018/8/1
Y1 - 2018/8/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85045153514&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85045153514&partnerID=8YFLogxK
U2 - 10.1007/s12185-018-2424-4
DO - 10.1007/s12185-018-2424-4
M3 - Article
C2 - 29476317
AN - SCOPUS:85045153514
VL - 108
SP - 228
EP - 231
JO - International Journal of Hematology
JF - International Journal of Hematology
SN - 0925-5710
IS - 2
ER -