Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
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.
KeywordsPure red cell aplasia Myelodysplastic syndrome Ribosomopathy Deletion 20q L3MBTL1
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 contributions of each author are as follows. MS, MI, and SO were the principal investigators, taking primary responsibility for the paper. YI, ET, KE, YS and HT performed the clinical management with helpful discussion regarding the completion of the work. AH gave helpful comments on the bone-marrow findings of myelodysplasia. HK, TT, and EI completed the genetic analysis.
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.
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Conflict of interest
The authors declare that they have no conflict of interest to disclose.