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

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga

研究成果: Contribution to journalArticle査読

2 被引用数 (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.

本文言語英語
ページ(範囲)228-231
ページ数4
ジャーナルInternational journal of hematology
108
2
DOI
出版ステータス出版済み - 8 1 2018

All Science Journal Classification (ASJC) codes

  • 血液学

フィンガープリント

「Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル