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01-08-2018 | Case Report

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

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

Published in: International Journal of Hematology | Issue 2/2018

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.

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Title: Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
Authors: Motoshi Sonoda
Masataka Ishimura
Yuko Ichimiya
Eiko Terashi
Katsuhide Eguchi
Yasunari Sakai
Hidetoshi Takada
Asahito Hama
Hitoshi Kanno
Tsutomu Toki
Etsuro Ito
Shouichi Ohga
Publication date: 01-08-2018
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 2/2018
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-018-2424-4

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