title: Cytogenetic and Molecular Analyses of Philadelphia Chromosome Variants in CML (chronic myeloid leukemia) Patients from Sindh using Karyotyping and RT-PCR.
abstract: OBJECTIVE
  To determine the frequency of Philadelphia chromosome (Ph) and its variants in chronic myeloid leukemia (CML) cases at a tertiary care hospital of Sindh.
  
  
  METHODS
  The study was conducted at the Department of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro and Isra University Hospital, Hyderabad during May-to-September 2014. Bone marrow and peripheral blood samples from a total of 145 diagnosed cases of CML were collected. Cytogenetic analyses were performed using karyotyping as per the International System for Human Cytogenetic Nomenclature guidelines. All karyotypic images were analyzed using the Cytovision software. In order to identify BCR-ABL transcripts, RT-PCR was performed. Statistical analysis of the data was done using SPSS-version-21.0.
  
  
  RESULTS
  Of the 145 samples, a total of 133 (91.7%) were positive for the Ph (Ph+) while 12 (8.3%) were negative for the Ph (Ph-). Of the 133 Ph+ samples, standard karyotypes were noted in 121 (91%), simple variants in 9 (6.7%) and complex variants in 3 (2.3%) of the samples. All the Ph+ samples (n=133) showed BCR-ABL positivity. Of the 12 Ph- samples, a total of 7 (58.3%) were BCR-ABL-positive and 5 (41.6%) were BCR-ABL-negative.
  
  
  CONCLUSIONS
  Frequency of the Ph was found to be of 90.9% in CML patients using a highly sensitive technique, the RT-PCR. Cytogenetic abnormalities were at a lower frequency. Cytogenetic and molecular studies must be conducted for better management of CML cases. These findings could be very useful in guiding the appropriate therapeutic options for CML patients.
authors.affiliation: Dr. Ikram Din Ujjan, PhD. Department of Pathology, Liaquat University of Medical and Health Sciences, Hyderabad, Pakistan.
authors.forename: Ikram Din
authors.initials: ID
authors.lastname: Ujjan
authors.affiliation: Prof. Dr. Anwar Ali Akhund, PhD. Department of Pathology, Isra University Hyderabad, Sindh - Pakistan.
authors.forename: Anwar Ali
authors.initials: AA
authors.lastname: Akhund
authors.affiliation: Dr. Muhammad Saboor, PhD. Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Saboor
authors.affiliation: Dr. Muhammad Asif Qureshi, MBBS (Dow), PhD (Glasgow-UK). Assistant Professor, Department of Pathology, Dow University of Health Sciences, Karachi, Pakistan.
authors.forename: Muhammad Asif
authors.initials: MA
authors.lastname: Qureshi
authors.affiliation: Dr. Saeed Khan, BSc, MSc, PhD, Post-doc (USA). Assistant Professor, HOD Molecular Pathology, Dow University of Health Sciences, Karachi, Pakistan.
authors.forename: Saeed
authors.initials: S
authors.lastname: Khan
keywords: BCR-ABL; Chronic Myeloid Leukemia; Philadelphia chromosome; Sindhi population; cytogenetic analyses