Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients (original) (raw)

Distribution of BCR–ABL1 Transcript Variants in Nigerians with Chronic Myeloid Leukemia

Indian Journal of Hematology and Blood Transfusion, 2020

The distribution of BCR-ABL1 transcript variants e13a2 (''b2a2'') and e14a2 (''b3a2'') in Nigerians with chronic myeloid leukemia (CML) had not been previously studied. In addition, there is paucity of data on the impact of BCR-ABL1 transcript variants on clinical presentation and survival in CML patients in Nigeria. The BCR-ABL1 transcript variants were analyzed in 230 Imatinib-treated CML patients at diagnosis. Patients with incomplete data (n = 28), e19a2 (n = 3) and e1a2 (n = 1) were excluded from analysis of transcript variant on disease presentation and survival leaving only 198. The frequencies of BCR-ABL1 transcript variants were 30 (13.0%), 114 (49.6%), 82 (35.7%), three (1.3%) and one (0.4%) for e13a2, e14a2, coexpression of e13a2/e14a2, e19a2 and e1a2, respectively. A significantly higher platelet count was found in patients with e13a2 variant (531.1 ± 563.4 9 10 9 /L) than in those expressing e14a2 (488.2 ± 560.3 9 10 9 /L) or e13a2/e14a2 (320.7 ± 215.8 9 10 9 /L); p = 0.03. No significant differences were found between the variants with regards to gender, age, phase of disease at diagnosis, total white blood cell count, neutrophil percentage, hematocrit, splenomegaly or hepatomegaly. Overall survival was higher but not statistically significant (p = 0.4) in patients with e14a2 variant (134 months) than in e13a2 (119 months) and coexpression of e13a2/e14a2 (115 months). Nigerian CML patients have the highest incidence of co-expression of e13a2 and e14a2. Distinct disease characteristics which contrast with findings from the Western countries were also identified in Nigerians which may be due to genetic factors.

Characteristics of BCR–ABL gene variants in patients of chronic myeloid leukemia

Open Medicine

Background Depending on breakpoints of rearrangement different types of BCR–ABL fusion protein can be generated in patients of chronic myeloid leukemia (CML). The aim of this study is to observe frequencies of major transcripts in CML patients by reverse transcriptase polymerase chain reaction (RT-PCR) and their hematological features at the time of presentation. Materials and methods This cross sectional study was performed at Molecular Lab of Riphah International University, Islamabad from January to June 2019. Consecutive peripheral blood samples of 70 newly diagnosed CML patients in chronic phase were analyzed by RT-PCR to detect different BCR–ABL transcripts. Routine blood cell counts were assessed by an automated hematology analyzer. Results All samples expressed typical BCR–ABL rearrangement. Expression of either e14a2 or e13a2 transcript was detected in 38 (54%) and 30 (43%) patients, respectively. Coexpression of e13a2 + e14a2 was found in 2 (3%) patients. The mean total le...

The proportion of different BCR-ABL1 transcript types in chronic myeloid leukemia. An international overview

Leukemia, 2019

international, national or regional registries, and between 20.0% and 94.6% in monocentric studies (4-31) (Table 1S). The reported proportion of patients co-expressing the two M-bcr transcripts (e14a2 and e13a2) ranged between 2.1% and 17.7% (Table 1S). The proportion of atypical, rare transcripts was rarely reported, ranging between 0.9% and 13.0% (Table 1S). The translation of each different RNA transcript results in different protein tyrosine kinases that can potentially affect the biologic characteristics of the disease and the response to treatment. For this reason, we planned a worldwide overview of the prevalence of BCR-ABL1 transcript types. PATIENTS and METHODS An invitation to join the study and to contribute data was sent to 201 investigators in 180 centers in Africa, Asia, Australia, Europe, North America, and South America. The investigators were selected on personal basis, or as first or senior authors of clinical papers on CML published in the period 2000 to 2016. One hundred and thirteen centers (63% of those invited) contributed data, nine from Africa

Frequencies of BCR-ABL1 fusion transcripts among Sudanese chronic myeloid leukaemia patients

Genetics and Molecular Biology, 2010

The incidence of one or other rearrangement in chronic myeloid leukemia (CML) patients varies in different reported series. In this study we report the frequencies of BCR-ABL1 fusion transcript variants studied in 43 CML patients from Sudan. The study includes 46 Sudanese patients, three of which negative for the BCR-ABL1 fusion transcript. More than half of 43 positive patients showed b2a2 fusion transcript (53.5%), while (41.9%) showed b3a2 transcript and the remaining (4.6%) coexpression of b3a2/ b2a2 and b3a2/b2a2/e19a2. We detected neither coexpression of p210/p190 nor e1a2 alone. Male patients showed a tendency to express b2a2, while female tende to express b3a2 (p = 0.017). Moreover, a single nucleotide polymorphism was detected in BCR exon 13 in one out of four patients and this patient showed only b2a2 expression. In conclusion, we observed a significant correlation between sex and type of BCR-ABL1 transcript, an observation that deserves further investigation.

Incidence of BCR-ABL transcript variants in patients with chronic myeloid leukemia: Their correlation with presenting features, risk scores and response to treatment with imatinib mesylate

Indian Journal of Medical and Paediatric Oncology, 2014

Context: The exact role of the different transcript variants of BCR-ABL in the pathogenesis of chronic myeloid leukemia (CML) and their impact on prognosis is yet to be definitely enumerated. Aims: In this study, we have tried to correlate the presenting features, risk scores and treatment response with the BCR-ABL variants detected in our patients. Settings and Design: A cross-sectional unicentric hospital-based study on 80 patients diagnosed to have CML by bone marrow cytogenetics and confirmed by reverse transcriptase-polymerase chain reaction (RT-PCR). Materials and Methods: RT-PCR for BCR-ABL was performed on consecutive patients with CML attending the CML clinic from January 2010 to December 2010.The medical charts of these patients were analyzed after a follow-up of 18 months in a retrospective manner. Statistical Analysis: Box plot and histogram was used to see the distribution of variables. t-test was performed to enumerate the difference between risk scores in two populati...

Prevalence of the BCR/ABL1 transcripts in Mexican patients with chronic myelogenous leukemia

Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición

RT-PCR studies in 93 patients with chronic myelogenous leukemia from the Mexican West were done in order to know the proportion of b2a2 and b3a2 BCR/ABL1 transcripts. Forty-five patients showed the b3a2 transcript (48%), 37 (40%) displayed the b2a2 and in 11 cases (12%) both transcripts were detected. Statistical analyses showed that these figures are in accordance with two of three similar studies realized in Mexican population. Moreover, significant differences were found among Mexican people and patients from other countries, namely Ecuador, England, Italy, Poland, Japan, and Thailand. Ecuadorian patients showed differences with all the populations analyzed. These variations could be due to a different genetic background.

Molecular Epidemiology of BCR-ABL Rearrangement Variants in Chronic Myeloid Leukemia and Acute Lymphocytic Leukemia from Major Institute of Pakista

2021

In Pakistan the disease burden of Chronic Myeloid Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL) is quite high, yet there is a lack of scientific evidence regarding the spectrum of BCR-ABL rearrangement variants in CML and ALL. Knowing about BCR-ABL rearrangement is important in determining the prognosis and treatment strategy of disease at the time of diagnosis. This study included a total of 685 patients, out of which there were 644 CML patients and 41 ALL patients, from October 2016-July 2019. From the CML group, 270 patients were reported to have the BCR-ABL1 transcript, from which 50% were males. Whereas in the ALL group, 35 patients were reported to have the BCR-ABL1 transcript out of which 65.7% were males. Proportions of BCR-ABL transcript type differed between the two groups, with b3a2 (63.3%) and b2a2 (34.8%) transcript types having the highest frequency in CML patients, whereas e1a2 (77.1%) and b3a2 (11.3%) transcript types were found to have the highest frequency ...

Frequency of BCR-ABL fusion transcripts in Serbian patients with chronic myeloid leukemia

Journal of B.U.ON. : official journal of the Balkan Union of Oncology

The aim of this study was to analyze the occurrence of the most frequent BCR-ABL transcript variants (b3a2, b2a2 and e1a2) in Serbian patients with chronic myeloid leukemia (CML) and compare it with the occurrence reported in other populations. We analyzed peripheral blood and bone marrow samples of 136 Serbian patients with CML by RT-PCR and cytogenetic methods. In 100 patients (73.5%) the b3a2 and in 34 (25%) the b2a2 forms of BCR-ABL were detected. One (0.75%) patient was BCR-ABL negative, but in lymphoblastic transformation he expressed the e1a2 [corrected] transcript of BCR-ABL. One (0.75%) patient displayed both b2a2 and b3a2 forms of BCR-ABL. Analysis of this group according to karyotype showed b3a2 predominance (79%) in patients with classic t(9;22); b2a2 was found in 20% and both b2a2 and b3a2 forms in 1%. In variant translocations b3a2 in 65% and b2a2 in 35% of the patients were detected. In contrast, the subgroup with normal karyotype expressed slight predominance of the ...

Frequency of BCR-ABL 1 Fusion Transcripts Variants in Chronic Myeloid Leukemia Algerian patients

Journal de la faculté de médecine d'Oran, 2017

Objectif-Dans le contexte de la leucémie myéloïde chronique (LMC), la recherche du transcrit de fusion BCR-ABL1 est devenue indispensable pour confirmer le diagnostic moléculaire. Dans cette étude, nous décrivons les différents types de transcrits de fusion BCR-ABL1 retrouvés chez des patients de l'Ouest algérien atteints de leucémie muéloïde chronique (LMC). Méthodes-Au total 167 patients suspects de LMC ont été inclus dans cette étude. La recherche qualitative des transcrits de fusion a été réalisée au service de biochimie de l'Etablissement hospitalier et universitaire d'Oran, par la technique d'amplification en chaine par polymérase après rétro-transcription (RT-PCR). Résultats-Les deux types de transcrits de fusion BCR-ABL1de type majeur Mb3a2 et Mb2a2 étaient présents respectivement dans 59,8 et 36.4 % des cas. Deux patients (1,8%) avaient un transcrit atypique rare de type e19a2 et deux autres (1,8%), ont co-exprimé les deux types b3a2 et b2a2. Conclusion-Notre étude a confirmé les données de la littérature en montrant une incidence plus élevée du transcrit majeur.