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1. Myelodysplastic Syndromes in Pakistani Population-Analysis of 52 Cases and their Outcome on Best Available Treatment Options

Author

Z. Rafiq, Shamsi Ts, Mehwesh T, and Maqsood S

Subjects
medicine.medical_specialty, Cytopenia, business.industry, Myelodysplastic syndromes, Bone marrow failure, Neutropenia, medicine.disease, Surgery, medicine.anatomical_structure, Median follow-up, hemic and lymphatic diseases, Internal medicine, medicine, Bone marrow, Progression-free survival, Myelofibrosis, business
Abstract

The Myelodysplastic syndromes (MDS) are clonally evolved bone marrow disorders leading to the bone marrow failure, peripheral cytopenia and a propensity for progression to acute myeloid leukemia (AML). To observe the trend and outcome of MDS in Pakistani population, a retrospective data analysis was carried out in National Institute of Blood Diseases & Bone Marrow Transplantation, from January 2010 to December 2014. Fifty-two MDS or MDS/MPN cases were analyzed out of which39 (75%) were males. Median age at the time of diagnosis was 60 years. Secondary/t-MDS was observed in 2 (3.8%) cases while others were de-novo MDS. Low intensity treatment was offered to 16 (30.7%) cases out of which 5 (31.25%) cases responded to treatment. Full HLA matched related donor allogenic HSCT was unsuccessfully attempted in 2 (3.8 %) cases. At the time of analysis only 19cases were alive after a median follow up 10 months (range 2 months to 48 months). Median progression free survival was 1.9 months for very high risk, 6 Months for high risk, 12.8 months for intermediate risk and 39 Months for very low and low risk while median overall survival was 3 months for very high risk, 8.5 months for high risk and 18.7 months for intermediate risk. All patients were alive in very low and low risk category when study was concluded.

Published
2015

2. Building blocks of hematology in the last 3 decades in Pakistan

Author

Tahir S. Shamsi, Tasneem Farzana, Saqib Ansari, Nazli Hossain, Arshi Naz, Munira Borhany, Mehwesh Taj, Saima Munzir, Uzma Zaidi, Jawwad Hassan, Nida Irfan, Nazmeen Shakoor, Farah Mubarak, Kouser Parveen, Syeda Anwari, Nadeem Ahmed, Mansoor Hussain, Irfan Ghafoor Baig, Dilnasheen Safdar, and Sadaf Shahab

Subjects
Specialties of internal medicine, RC581-951
Published
2019
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3. FREQUENCY OF FMS-LIKE TYROSINE KINASE 3 KINASE DOMAIN POINT MUTATION (FLT3/TKD MUTATION) IN DIFFERENT AGE GROUPS OF ACUTE MYELOID LEUKEMIA PATIENTS.

Author

Khaleeq unnisa, zeeshan ulqadar, sadaf shahab, Muhammad Nadeem, Danish Zahid, zaen ulAbedin, Saqib Ansari, Tasneem Farzana, Mehwesh Taj, Munira Borhany, Arshi Naz, and Tahir Sultan Shamsi

Subjects
Acute myeloid leukemia (AML), FLT3, TKD mutation, NIBD, Pakistan, Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Activation of the FLT3 receptor tyrosine kinase, by point mutations in the second tyrosine kinase domain (TKD), has been described in patients with acute myeloid leukemia (AML). This study was planned to estimate the frequency of FMS-like Tyrosine Kinase 3 Kinase Domain Point Mutation (FLT3/TKD Mutation) D835Y via PCR in different age groups of AML patients. An observational cross sectional study was carried out in National Institute of Blood Diseases and Bone Marrow Transpalntation (NIBD) from May 2010 to October 2011. AML patients diagnosed on the basis of WHO classification of myeloid neoplasms 2008 were included in the study. PCR was used to detect FLT 3/ TKD mutation (D835Y) from peripheral blood samples. DNA was extracted and exon 20 was amplified using primers 20F and 20R. Eco RV restriction enzyme was used to discriminate between mutant D835Y and the wild type followed by 2% agarose gel electrophoresis. A small cohort of cytogenetically unsolicited 151 AML patients were analysed. D835Y mutation was detected in 15 (9.9%) out of 151 patients. D835Y mutation was more frequent approximately double in men (12.1%) than in women (6.7%). The frequency of D835Y mutation increased above 60 years; 2 (14.3%) out of total 14 cases had the mutation in this age group. D835Y mutations were more prevalent in patients with Acute myelomonocytic leukemia (17.6%) followed by AML with maturation (14.9%). In conclusion, FLT3/ TKD mutation has been detected in 9.9% cases of AML patients. It is more commonly seen in male, at increased age and in Acute myelomonocytic leukaemia. Keywords: Acute myeloid leukemia (AML), FLT3, TKD mutation, NIBD, Pakistan

Published
2014

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