Clinicohematological and cytogenetic profile of myelodysplastic syndromes in Pakistan-compare and contrast

Abstract

BackgroundMyelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS.ResultsA retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016. Total of 177 patients were included in the study having median age 51 years and male to female ratio of 3:1. Pancytopenia was observed in 80 (45%) patients and bicytopenia in 74 (42%). Mean Hb% was 7.8 ± 2.18 g/dl, total leukocyte count (TLC) 8.8 ± 13.6 × 109/l, platelet count was 82 ± 95.7 × 109/l. Of total 170 (96%) were transfusion dependent. Refractory cytopenias with multilineage dysplasia (RCMD) was the most common world health organization (WHO) category. Karyotype was done in 98 (55%) patients out of which 44 (45%) had abnormal karyotype, complex karyotype (CK) was most commonly observed in 12 (12.2%) followed by monosomy 7 in 7 (7.1%).ConclusionsWe found younger median age at diagnosis, higher mean TLC and no significant history of recurrent infections. CK and monosomy 7 carry bad prognostic implications and early disease transformation to acute myeloid leukemia (AML). Monosomy 7 being associated with bad overall survival, such patients must be identified early with close clinical follow up and offered stem cell transplant. This is the largest cohort of patients of MDS evaluated for baseline clinical and cytogenetic characteristics in our country.

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan

“…Myelodysplastic syndrome (MDS) constitutes a heterogeneous group of clonal hematopoietic disorder of stem cells characterized by blood cytopenias in the presence of morphological dysplasia and tendency for leukemic transformation [ 1 , 2 ]. Understanding the nature of disease is imminent for analysis of various clinical, biological and genomic factors involved in variability of disease evolution from indolent cytopenias to aggressive leukemic progression [ 1 ].…”

“…Understanding the nature of disease is imminent for analysis of various clinical, biological and genomic factors involved in variability of disease evolution from indolent cytopenias to aggressive leukemic progression [ 1 ]. Previously many pathogenic mechanisms have been proposed including clonal, immune and genetic leading increased apoptosis [ 2 ]. However, during the past decade various sequencing technologies have played a major role in revealing major insights of disease pathogenesis unfolding disease genomics.…”

“…Hereditary and epigenetic variations form the standard of myeloid neoplasia advancement and in spite of the level of dysplasia and impact rates yet being the primary highlights for the WHO classification, a lot of information has turned out to be accessible on repeating transformations in MDS, fundamentally because of massive parallel sequencing strategies [ 1 ]. Working in third world country like Pakistan, where we have limited resources for health, education and scientific research, implementation of genomics disciplines are believed to be valuable tools to advance knowledge as well as improve health risk identification, diagnoses, treatment and prevention [ 2 ]. Next-generation sequencing (NGS) now considers synchronous sequencing and investigation of numerous qualities, as opposed to the more relentless single-quality examine approach, and has quickened the revelation of pathogenic transformations in MDS, Myeloproliferative neoplasms (MPNs), and acute myeloid leukemia (AML).…”