CLINICO-PATHOLOGICAL SPECTRUM AND NOVEL KARYOTYPIC FINDINGS IN MYELODYSPLASTIC SYNDROME: EXPERIENCE OF TERTIARY CARE CENTRE IN INDIA.
Main Article Content
Keywords
MDS, cytogenetics, India
Abstract
Background: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by presence of cytopenia/s. Limited data is available pertaining to the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinco pathological, morphological and cytogenetic spectrum of Indian MDS patients.
Material and methods: A retrospective analysis of all patients diagnosed as MDS from June 2012-December 2016 was performed. Their clinical and laboratory data was collated and reviewed.
Results: A total of 150 patients of as primary MDS were evaluated with M: F ratio of 1.6:1 and median age of 55.5 years. 64% patients presented with pancytopenia, with thrombocytopenia alone was seen in only 2 cases. There were 66 (44%) cases of MDS-MLD, 33 (22%) MDS-EB 2, 32 (21.3%) MDS–EB 1, 13 (8.6%) cases MDS-SLD and two cases each of MDS-SLD-RS, MDS-MLD-RS and RCC. Cytogenetic data was available in 86/150 patients, 50% of which were abnormal. Complex karyotype was observed to be the commonest abnormality (27.5%). Novel translocations like t(9;22)(q11.2;q34.2) in addition to other abnormalities (n=3), t(2;4)(p25;q23),t(1;5)(p22;q33), t(1;12)(p34;p11.2) and t(5;7;9;)(q13;q32;p22) were observed.
Conclusion: The median age of patients in India is almost a decade younger than the western population. Moreover, majority of the patients belonged to the high risk IPSS-R prognostic group (31.4%), followed by intermediate (29%) and very high risk groups (24.4%) in our cohort of patients. Seventy percent individuals, < 40 years belonged to the high prognostic categories, indicating that Indian MDS patients have high disease burden and in turn more likelihood for leukemic transformation.
Downloads
Abstract 1507
PDF Downloads 546
HTML Downloads 872
Untitled Downloads 0
References
1. Swerdlow S CE, Harris N et al (2008) WHO classification of tumors of hematopoietic and lymphoid tissues. Lyon.
2. Hasse D. Cytogenetic features in myelodysplastic syndromes. Annals of Hematology 87:515-26. DOI: 10.1007/s00277-008-0483-y PMID: 18414863 PMCID: PMC2413090
3. Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012 Sep 20;120(12):2454-65. DOI: 10.1182/blood-2012-03-420489 PMID: 22740453 PMCID: PMC4425443
4. Varma N, Varma S. Proliferative indices, cytogenetics, immunophenotye and other prognostic parameters in myelodysplastic syndromes. Indian J Pathol Microbiol. 2008 Jan-Mar;51(1):97-101. PMID: 18417875
5. Vundinti BR, Kerketta L, Jijina F, Ghosh K. Cytogenetic study of myelodysplastic syndrome from India. Indian J Med Res. 2009 Aug;130(2):155-9. PMID: 19797812
6. Shah NM, Prajapati SG, Adesara RP, Patel AP. An analysis of 30 cases of myelodysplastic syndrome. Indian J Pathol Microbiol. 2009 Apr-Jun;52(2):206-9. PMID: 19332914
7. Chaubey R, Sazawal S, Dada R, Mahapatra M, Saxena R. Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes. Indian J Med Res. 2011 Oct;134:452-7. PMID: 22089606 PMCID: PMC3237242
8. Rajendran R, CN Sai, Suman D, Krishnarathnam K, Rajendran R, Koshy T et al. Profile of myelodysplastic syndrome: A study done at tertiary care centre from south India. International Journal of Recent Trends in Science and Technology 2015;15:606-09.
9. Demirkan F, Alacacioglu I, Piskin O, Ozsan HG, Akinci B, Ozcan AM et al. The clinical, haematological and morphological profile of patients with myelodysplastic syndromes: a single institution experience from Turkey. Leuk Lymphoma. 2007 Jul;48(7):1372-8. DOI: 10.1080/10428190701377063 PMID: 17613766
10. Geddes AA, Bowen DT, Jacobs A. Clonal karyotype abnormalities and clinical progress in the myelodysplastic syndrome. Br J Haematol. 1990 Oct;76(2):194-202. PMID: 2094322
11. Bernasconi P, Klersy C, Boni M, Cavigliano PM, Calatroni S, Giardini I et al. World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol. 2007 May;137(3):193-205. DOI: 10.1111/j.1365-2141.2007.06537.x PMID: 17408458
12. Keung YK, Beaty M, Powell BL, Molnar I, Buss D, Pettenati M. Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia- retrospective study and review of literature. Leuk Res. 2004 Jun;28(6):579-86. DOI: 10.1016/j.leukres.2003.10.027 PMID: 15120934