Additional cytogenetic abnormalities in chronic myeloid leukaemia; an experience from Pakistan.

OBJECTIVE: To evaluate the presence and characteristics of additional karyotype abnormalities in chronic myeloid leukaemia cases. METHODS: The cross-sectional study was conducted at the Department of Cytogenetics and Molecular Pathology, National Institute of Blood Diseases and Bone Marrow Transplant, Karachi, from May 2010 to September 2016 and comprised diagnosed chronic myeloid leukaemia patients regardless of age and gender. Baseline cytogenetic evaluation was done on overnight, 24-hrs un-stimulated and 72-hrs stimulated bone marrow cultures, and karyotypes were defined according to the International System for Human Cytogenetic Nomenclature2013. Data was analysed using SPSS 23. RESULTS: There were 222 cases with a median age of 38 years (range: 12-84 years). The male-to-female ratio was 1.8:1. Chronic myeloid leukaemia was detected in 18(8.1%) patients having additional cytogenetic abnormalities. Among the patients found positive, cytogenetic type was minor in 10(55.55%), major 3(16.66%), complex 3(16.66%), and variant 2(11.11%). CONCLUSION: Additional cytogenetic abnormalities were found in 8% of the sample.

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

BACKGROUND: Myelodysplastic 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. RESULTS: A 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%). CONCLUSIONS: We 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.