TY - JOUR
T1 - Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
AU - Sonoda, Motoshi
AU - Ishimura, Masataka
AU - Ichimiya, 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, Shouichi
N1 - Funding Information:
We thank Prof. Yoshiyuki Takahashi and Emeritus Prof. Seiji Kojima, and the staffs of the central review (Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.) for helpful comments on the BM morphology. The authors declare that they have no conflict of interest to disclose.
Funding Information:
Funding This work was supported in part by Practical Research Project for Rare/Intractable Diseases (15ek0109133) and Grant-in-Aids (15ek0109099h001) from the Japan Agency for Medical Research and Development (AMED) and the Research on Measures for Intractable Diseases Project and Health and Labor Sciences Research grants (Research on Intractable Diseases) from the Ministry of Health, Labor and Welfare.
Publisher Copyright:
© 2018, The Japanese Society of Hematology.
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.
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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 -
