Clinical, hematological, and cytogenetic profile of adult myelodysplastic syndrome in a tertiary care center

Abstract

Background: Myelodysplastic syndrome (MDS), a disorder of clonal hematopoiesis, is an important clinical entity, but most of the studies available are conducted among the Western population. Its etiological factors and clinicohematological profile in the Indian population are quite diverse. The information regarding its prognostic factors and cytogenetics is very scarce.

Objectives: (1) To assess the clinicohematological profile, cytogenetics, prognostic factors, and outcome of MDS and (2) to study its progression to acute myeloid leukemia (AML) in the selected patients over the study period.

Methods: A prospective observational study was performed with patients from Department of Medicine and Hematology, Government Medical College, Kozhikode, who were diagnosed with MDS within the study period (from 1 January 2014 to 31 July 2015). Secondary causes of dysplasia were excluded. In possible cases, the international prognostic scoring system was followed. These patients were followed up for an additional 6 months to assess the progression of MDS to AML based on symptoms, signs, hemogram, or repeat peripheral smear/bone marrow studies.

Results: Of the 60 patients, 73% were aged >60 years. Disease was common in males, with a male:female ratio of 7:3. Thirty-five percent of the patients were working in agricultural and allied fields and had pesticide exposure. Patients with prior radiation exposure had significant association with adverse outcome. Fatigue was the prominent symptom and was reported by 90% of the patients. Blasts were >5% in peripheral smear; bone marrow cytopenia and dysplasia at the time of diagnosis had significant association with risk of transforming to AML. Refractory anemia (RA), observed in 22 patients, was the most common type of MDS. Most of the patients with RA with excess blasts type-1 and RA with excess blasts type-2 transformed to AML, and the association was statistically significant. Deletion of short arm of fifth chromosome (5q deletion) was detected in 11 patients. All of them showed good response to treatment with lenalidomide and had a favorable outcome.

Conclusion: This study highlights the various etiological factors, and the clinical profile of MDS seen in the Indian population. Cytogenetic analysis and application of the international prognostic scoring system has a significant bearing on the outcome, as exemplified by the response to lenalidomide in patients with 5q deletion. This study also indicates that proper diagnostic and prognostic assessment is necessary to institute appropriate therapeutic options.

Keywords: AML; MDS; cytogenetics; prognosis.

Figure 1

Age distribution of patients.

Figure 2

Gender distribution of patients.

Figure 3

Distribution of symptoms.

Figure 4

Physical signs.

Figure 5

Peripheral smear morphology.

Figure 6

Bone marrow profile.

Figure 7

Cytogenetic profile.

Figure 8

Type of myelodysplastic syndrome. Abbreviations: MDS, myelodysplastic syndrome; RA, refractory anemia; RN, refractory neutropenia; RT, refractory thrombocytopenia; RARS, refractory anemia with ringed sideroblasts; RCMD, refractory cytopenia with multilineage dysplasia; RAEB-1, refractory anemia with excess blasts type-1; RAEB-2, refractory anemia with excess blasts type-2; 5q del, 5q deletion; MDS, myelodysplastic syndrome; MDS-U, MDS unclassified.

Figure 9

IPSS stratification of patients. Abbreviations: IPSS, international prognostic scoring system.

Figure 10

R-IPSS risk stratification of patients. Abbreviation: R-IPSS, revised international prognostic scoring system.

Figure 11

Type of AML transformation in patients. Note: Numbers indicate number of patients. Abbreviation: AML, acute myeloid leukemia.

Figure 12

Peripheral smear blast percentage and risk of AML transformation. Abbreviations: AML, acute myeloid leukemia; PS, peripheral smear.