Myelodysplastic Syndrome (MDS) with Isolated 5q Deletion (5q –Syndrome): Report of two cases with review of literature
Journal Title: World Journal Of Pathology - Year 2018, Vol 7, Issue 1
Abstract
Cytogenetics is frequently seen in myelodysplasia and deletion of the long arm of chromosome 5, del (5q) is the most frequently observed cytogenetic abnormality in patients with myelodysplastic syndrome (MDS). This distinct hematologic phenotype with5q- deletion as the solekaryotypic abnormality is termed as 5q- syndrome. The World Health Organisation in 2001 recognized MDS with isolated del (5q) as a unique, narrowly defined distinct entity. The 5q-syndrome is the most distinct of all the myelodysplastic syndromes, and the molecular basis of this disorder still remains unknown. Herein, we present two cases of 5q-syndrome. Both the cases were elderly males who presented with refractory anemia. Bone marrow aspirate smears and bone marrow biopsy showed morphological features suggestive of 5q-syndrome FISH was performed to confirm 5q syndrome. Advances in the understanding of the pathogenesis of 5q deletion syndrome have suggested that it is actually a highly heterogeneous disease with variable prognosis. We discuss clinical and morphological features as well as new evolving therapies for reversal of anaemia and treatment of 5q syndrome.
Authors and Affiliations
Mona Bargotya, Ankita Mehta, Sarjana Dutt, Harsh Dua, Tejinder Singh
Keywords
Related Articles
- EP ID EP527697
- DOI -
- Views 118
- Downloads 0
Reliability of Different RBC Indices to Differentiate between Beta Thalassemia Trait and Iron Deficiency Anaemia During Antenatal Screening
Thalassemia and related hemoglobinopathies affect the quantity and quality of haemoglobin. High performance liquid chromatography (HPLC) is considered the gold standard for diagnosis of hemoglobinopathies. This test is n...
Myelodysplastic Syndrome (MDS) with Isolated 5q Deletion (5q –Syndrome): Report of two cases with review of literature
Cytogenetics is frequently seen in myelodysplasia and deletion of the long arm of chromosome 5, del (5q) is the most frequently observed cytogenetic abnormality in patients with myelodysplastic syndrome (MDS). This disti...
Expression of MUC1 and MUC2 in Colorectal Adenocarcinoma
Background Throughout the world Colorectal cancer is a major cause of morbidity and mortality. It is the most common cancer and the fourth most frequent cause of cancer death worldwide. The annual incidence rates (AARs)...