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Abstract
Background: The myelodysplastic syndrome (MDS) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. Deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in MDS. This is the first case report of del (6q) as the only observed diagnostic change in Iran. We also reviewed the literature of this cytogenetic lesion.
Keywords: Myelodysplastic syndrome, Deletion 6q, Iran
Itroduction
The myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders characterized by cytopenia(s), dysplasia in one or more of the major myeloid cell lines, ineffective hematopoiesis, and increased risk for development of acute myeloid leukemia (AML) (1-3). Approximately 50% of patients have a detectable cytogenetic abnormality during routine GTGbanded karyotyping (4) and the most commonly involved chromosomal changes observed are monosomy 5 or del(5q), monosomy 7 or del(7q), trisomy 8, del (20q) and del(9q) (5-9). Several studies have established the prognostic value of cytogenetic analysis in MDS both for survival and progression to AML (10-12). For example, an isolated 5q deletion is characterized by longer survival and lower progression rates to AML (12). In MDS rare abnormalities can be observed frequently (7). To our knowledge, there has been no case report of del (6q) in MDS in Iran, and there are only four case reports worldwide (13-16).
Case Report
A 66-year-old woman was admitted at Imam Khomeini Hospital complexes affiliated to Tehran University of Medical Science, in August 2012 for further evaluation of moderate refractory anemia. The patient had received a treatment for iron, vitamins B12 and folic acid. This treatment had no influence on her hematologic condition. In addition, she had received supportive cure in the form of transfusions. At admission, the patient had ill appearance without fever and showed no splenomegaly, lymphadenopathy, or organomegaly on physical examination. A complete blood evaluation revealed hematocrit of 24.7%, hemoglobin 7.7 g/dl, red cell count 2.26 × 106/µl, MCV 109 fL, reticulocytes 2.2% of red blood cells, leukocyte count 9.4× 103/µl (neutrophils 60%, lymphocytes 35%, monocytes 1%, eosinophils 1%) and platelet count 288× 103/µl. Blood film demonstrated red cell anisocytosis, with macrocytosis and moderate numbers of target cells. Schistocytes were not observed. Most biochemical tests for liver and renal function...