Please use this identifier to cite or link to this item: http://prr.hec.gov.pk/jspui/handle/123456789/20227
Title: Molecular (Bcr-Abl Gene), Cytogenetic and Hematological Analysis of Chronic Myeloid Leukemia Patients in Pakistan
Authors: Asif, Muhammad
Keywords: Biological & Medical Sciences
Biotechnology
Issue Date: 2021
Publisher: Balochistan University of Information Technology, Engineering & Management Sciences, Quetta
Abstract: Chronic myeloid leukemia (CML), is a disease of the hematopoietic stem cells. CML is a type of blood cancer caused by the balanced translocations amongst the long arms of chromosomes 9 and 22, which are called as the (Ph) Philadelphia chromosome. The incidence of the translocation chromosomes 9 and 22 is detected nearly about in ninety-five percent CML patients however; 5-10% patients show complex variant translocations. A complete blood cell count of 131 patients was done at the time of diagnosis. Cytogenetic (Karyotyping) examination using bone marrow samples were conducted on 76 CML patients for the confirmation of Ph-positive (9;22)(q34; q11) standard translocation, complex variant translocation and the additional chromosome abnormalities. FISH was performed on 38 out of 131 patients for diagnostic purposes and 39 out of 131 were for monitoring purposes. Twenty-two samples were analyzed by Reverse Transcriptase- PCR of those patients who fail to respond and showed resistance against Imatinib Mesylate and shifted to second generation drug Nilotinib within the first year. Among 131 patients 72 (54.96 %) were male and 59 (45.03%) were female with median age of 38.5 years between the age 11-77 years. During diagnosis, CBC values showed that 75 patients had high values of WBC being > 100x 103 /µl, 71 (58.01) patients showed decreased level of hemoglobin i.e. < 10.00 mg/dl, low values of platelets <150 x103 /µl were observed in 14 patients (10.68%) however, high values of PLTs > 100 x103 /µl were observed in 40 (30.53%) CML patients. The results of cytogenetic analysis show that 57(75%) patients were with Ph-positive standard translocation; additional chromosomal abnormalities were developed in 3 (3.94%) CML patients. Progression with complex variant translocations was observed in 8 (10.52%) CML patients, however among them additional chromosomal abnormalities together with complex variant translocations were developed in 2 (2.63%). At the time of diagnosis, 66 (92.95%) patients were in the chronic phase, 04 (5.6 3) were in the accelerated phase and only 01 (1.40) was in the blast crisis. Thirty-eight patients were analyzed by FISH at diagnosis, thirty-three showed increased levels of BCR-ABL fusion cells while 05 patients showed 0% BCR-ABL negative cells. Out of twenty-two only 06 CML patients, who were shifted from Imatinib Mesylate to Nilotinib showed BCR-ABL positive amplification. In conclusion in this study we investigated four novel cases, 46XX, t (1;2;2;17;9;22) (p36.3, q21; q11.2, q21, q34, q11.2), 46, XY, t (4;9;19;22) (q25: q34; p13.3; q11.2), 52XX, t(1;9;22) xix (q23.3;q34;q11),+6,+8, i(9)(q10;q10), +18,+19,+21+der22 t(9;22) (q34;q11) and 48XY, +8(8; 17) (9;22), +der (22) (q11.2; q23) (q34; q11.2) in CML patients.
Gov't Doc #: 25667
URI: http://prr.hec.gov.pk/jspui/handle/123456789/20227
Appears in Collections:PhD Thesis of All Public / Private Sector Universities / DAIs.

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