Indian Journal of Pathology and Microbiology

: 2017  |  Volume : 60  |  Issue : 2  |  Page : 301--303

5q deletion myelodysplastic syndrome

Preethi S Chari1, Smitha Chander2, TS Sundareshan2, Sujay Prasad2,  
1 Department of Hematology, Anand Diagnostic Laboratory, Bengaluru, Karnataka, India
2 Department of Cytogenetics, Anand Diagnostic Laboratory, Bengaluru, Karnataka, India

Correspondence Address:
Preethi S Chari
Department of Hematology, Anand Diagnostic Laboratory, No. 54, Bowring Tower, Bowring Hospital Road, Shivajinagar, Bengaluru - 560 001, Karnataka

How to cite this article:
Chari PS, Chander S, Sundareshan T S, Prasad S. 5q deletion myelodysplastic syndrome.Indian J Pathol Microbiol 2017;60:301-303

How to cite this URL:
Chari PS, Chander S, Sundareshan T S, Prasad S. 5q deletion myelodysplastic syndrome. Indian J Pathol Microbiol [serial online] 2017 [cited 2022 Jul 3 ];60:301-303
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Full Text


Anemia is a common manifestation of various diseases, the causes of which are diverse. Detailed clinical history with relevant laboratory investigations plays a crucial role in appropriate disease diagnosis and management. Our patient was a 62-year-old female who was referred to us for bone marrow examination as a part of the evaluation of refractory anemia. Her peripheral blood counts showed reduced hemoglobin of 8 g/dl, white blood cell of 5590 cells/μl, and platelet count of 389,000 cells/μl. The peripheral blood smear revealed macrocytic red cells with anisocytosis. Bone marrow aspirate smears showed an increase in megakaryocytes, pseudo-Pelger–Huet cells, erythroid hypoplasia, erythrodysplasia in the form of mitosis and irregular nuclear borders and <1% myeloblasts. Trephine biopsy was remarkable for megakaryocyte hyperplasia that was seen distributed in the paratrabecular, intermediate, and central regions of the marrow space. They appeared slightly smaller in size with most of them being mononuclear [Figure 1] and [Figure 2]. Based on the above findings, a diagnosis of myelodysplastic syndrome (MDS), 5q deletion (5q−) was considered. Conventional karyotyping and GTG-banding was done. Twenty metaphases were screened and fifteen karyotyped [Figure 3]. The result was interpreted according to International System for Human Cytogenetic Nomenclature (1995). There was interstitial deletion of long arm of chromosome 5 and reported as 46, XX, del (5) (q13q33), thus confirming our initial diagnosis. Fluorescent in situ hybridization indicated 5q− in 40% of analyzed cells.{Figure 1}{Figure 2}{Figure 3}

MDS encompasses a group of acquired disorders that are usually characterized by peripheral blood cytopenias, dysplasia, and clonal proliferation of hematopoietic cells resulting in ineffective erythropoiesis. Prognosis is highly variable with nearly 30% of the cases progressing to acute leukemia.[1] 5q− syndrome is recognized as a distinct entity by the WHO.[2] Documented studies from different parts of the world show that this subtype is the most common, occurring in 10%–20% of the patients with MDS. Unpublished data from our center show an incidence of 6%. The disease presents commonly in middle age, more often in women and unlike other subtypes of MDS they carry favorable prognosis with rare transformation to acute myeloid leukemia.[3] It has been postulated that the disease arises from bone marrow stem cell.[4] These patients typically present with macrocytic anemia, normal to elevated platelet counts, dysplastic megakaryocytes, <1% myeloblasts, and isolated karyotype aberration involving interstitial deletion of long arm of chromosome 5. The size of deletion and breakpoints may be varied commonly being a 1.5 MB segment extending from bands 5q31 to 5q33.[5] Studies have shown that a subset of patients with 5q− have additional chromosomal aberration, conversely, 5q− may be seen in other myeloid disorders. These tend to carry worse prognosis depending on the nature of aberration and do not fall in the category of 5q− MDS. While approaching a case of refractory anemia in an elderly, a differential diagnosis of 5q− MDS must be kept in mind as targeted therapy for the disease is available and it carries a good prognosis.

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