Blood Res 2018; 53(2): 104  https://doi.org/10.5045/br.2018.53.2.104
Del(5q) myelodysplastic syndrome combined with pure red cell aplasia
Joowon Park*

Department of Laboratory Medicine, Dankook University Hospital, Cheonan, Korea.

Correspondence to: Joowon Park, M.D., Department of Laboratory Medicine, Dankook University College of Medicine, 201, Manghyang-ro, Dongnam-gu, Cheonan 31116, Korea. joowon@dankook.ac.kr
Received: January 30, 2018; Revised: April 4, 2018; Accepted: May 10, 2018; Published online: June 25, 2018.
© The Korean Journal of Hematology. All rights reserved.

 

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A 76-year-old woman was admitted with dizziness for 2 weeks. No organomegaly or lymphadenopathy was revealed on physical examination. Initial blood cell values were as follows: hemoglobin, 5.4 g/dL; mean corpuscular volume, 105 fL; white blood cell count, 8.1×109/L (differential count: neutrophils, 54%; lymphocytes, 37%; monocytes, 6%; eosinophils, 3%); platelet count, 402×109/L; and absolute reticulocyte count, 3.9×109/L. Biochemical and serologic test results were unremarkable. Direct Coombs test result was negative. Bone marrow (BM) examination showed hypercellular marrow with marked erythroid hypoplasia (1.4% erythroblasts). The estimated myeloid-to-erythroid ratio was 72:1. Most erythroblasts found were early erythroid precursors, and late erythroblasts were rarely observed (A, BM aspiration, Wright-Giemsa stain, ×400, arrow). Granulopoiesis was normal; however, dysplastic megakaryocytes with non-lobulated and hypolobulated nuclei were observed in several fields (B, BM biopsy, hematoxylin and eosin stain, ×400). No evidence of thymoma was detected on computed tomography scans. Subsequently, chromosome study demonstrated 46,XX,del(5)(q15q33)[18]/46,XX[2]; therefore, the patient was diagnosed with myelodysplastic syndrome (MDS) with isolated del(5q). Erythroid hypoplasia is frequently observed in 5q- syndrome; however, a marked decrease with maturation arrest of erythropoiesis mimicking pure red cell aplasia is very unusual. TP53 activation has been suggested to cause erythroid suppression in MDS with del(5q).



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