5q-syndrome
Journal Title: Αρχεία Ελληνικής Ιατρικής - Year 2008, Vol 25, Issue 1
Abstract
A 67-year-old woman was admitted to our department due to intense dyspnoea, fatigue, dizziness and leg cramps. Her past medical history included hypertension and diabetes mellitus, while her family history was unremarkable. The physical examination revealed pale skin, increased heart rate (110/min) and rapid breathing (22/min). The full blood count revealed severe macrocytic anemia (Hb 7.8 g/dL, Hematocrit 24.2%, MCV 106 fL, MHC 32 pg), with normal white blood cell counts 4.6×109/L (differential counts: neutrophils 2.6×109/L, lymphocytes 1.2×109/L, and monocytes 0.8×109/L) and increased platelet count of 672×109/L. The evaluation of peripheral blood smear revealed macrocytosis, and dysgranulopoiesis of neutrophils with Pelger-Huët-like hyposegmentation. No blast was observed. The reticulocyte counts were 0.8% (fig. 1). Serum concentrations of vitamin B12, and folate acid as well as iron tests were normal. Serum erythropoietin concentration was 32 mU/mL (the upper normal limit in our laboratory is 20 mU/mL). The direct Coomb’s test was IgG positive (2+) without evidence of clinical or laboratory hemolysis. The biochemistry profile of the patient including lactate dehydrogenase, bilirubin and electrolytes was within normal limits. Chest X-rays and ultrasound of the abdomen revealed no pathology. The bone marrow aspiration was normocellular (figures 2, 3). Erythroid lineage was normocellular with megaloblastoid changes, while myeloid series showed dysgranulopoiesis. No ringed sideroblasts were observed. In trephine biopsy dysplasia of all series was accompanied by grade I fibrosis. Bone marrow karyotype showed 46,XY,del(5)(q15q33)[5]/46,XX[15]. The diagnosis was established and the patient was given red blood cell transfusions along with erythropoietin administration. There was no erythroid response to erythropoietin and the patient received lenalidomide achieving major erythroid response but not cytogenetic response after 6 months of therapy.
Authors and Affiliations
J. MELETIS, A. SARANTOPOULOS, S. MASOURIDI, P. DIAMANTOPOULOS, C. BOMBORIS, Y. DALAMAGAS, M. ASPRADAKI, V. MILIONIS, E. VARIAMI, N. VINIOU
Keywords
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