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

Osman, Emad-Aldin I.; Hamad, Kamal; Elmula, Imad Mohamed Fadl; Ibrahim, Muntaser E.

doi:10.1590/s1415-47572010005000037

Cited by 22 publications

(16 citation statements)

References 17 publications

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“…Co-expression of b2a2 and b3a2 transcripts has been linked to two polymorphisms, T to C at exon 13 and A to G at intron 13 (Meissner et al, 1998;Branford et al, 2002). However, in our study by Osman et al (2010) six PCR products from four patients were sequenced to confirm the products of four b2a2 and two b3a2 and one was found to harbor T to C at exon 13 and expressed only b2a2 transcript which might indicate that this exonic polymorphism is not obligatory for co-expression, as reported by Mondal et al (2006). Moreover, this polymorphism has no implication on the primary structure of BCR and BCR-ABL proteins.…”

Section: Gene and Chromosomal Rearrangementscontrasting

confidence: 64%

“…A study on an Ecuadorian population, however, registered very different frequencies: 5% for b3a2 and 95% for b2a2 (Paz-y-Mino et al, 2002). In our report in Sudanese patients ( Osman et al, 2010 ), a frequency of 53.5% and 41.9% for b2a2 and b3a2, respectively, was reported, values that are relatively closer to those from a Mexican population (Arana- Trejo et al, 2002). This difference in frequencies may be due to the genetic differences of the populations.…”

Section: Gene and Chromosomal Rearrangementssupporting

confidence: 59%

See 1 more Smart Citation

Myeloid Leukemia: A Molecular Focus on Etiology and Risk Within Africa

Ibrahim¹,

Osman²

2011

Myeloid Leukemia - Basic Mechanisms of Leukemogenesis

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Section: Gene and Chromosomal Rearrangementscontrasting

confidence: 64%

Section: Gene and Chromosomal Rearrangementssupporting

confidence: 59%

Myeloid Leukemia: A Molecular Focus on Etiology and Risk Within Africa

Ibrahim¹,

Osman²

2011

Myeloid Leukemia - Basic Mechanisms of Leukemogenesis

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“…The incidence rates of the BCR‐ABL1 transcript types gathered from the full‐text articles are given in Table . Of 26 articles, 22 (85%) showed a higher incidence of the e14a2 transcript whereas only 4 articles demonstrated a higher incidence of the e13a2 transcript.…”

Section: Introductionmentioning

confidence: 99%

The impact of BCR‐ABL1 transcript type on tyrosine kinase inhibitor responses and outcomes in patients with chronic myeloid leukemia

Erçalışkan

Eşkazan

2018

Cancer

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Although the majority of patients with chronic myeloid leukemia do well with treatment with tyrosine kinase inhibitors (TKIs), some patients still have inferior outcomes. There are many factors that might play a part, including the different BCR-ABL1 transcript types at baseline. The current study was performed to determine the possible impact of different transcripts on the treatment responses and outcomes of patients with chronic myeloid leukemia who are receiving TKI therapy. The authors performed a systematic literature search by using the terms "b2a2/b3a2," "e13a2/e14a2," or "transcript type." e14a2 was the more common transcript type. The majority of the studies demonstrated no significant difference regarding age, sex, leukocyte counts, and hemoglobin levels between patients with the e13a2 and e14a2 transcripts. However, in approximately one-half of the studies, the e14a2 transcript was associated with higher platelet counts. Almost no studies demonstrated a significant association between disease risk scores and transcript types. In the majority of studies, having the e14a2 transcript was associated with earlier, deeper, and higher molecular response rates. Although better event-free survival was observed in patients with the e14a2 transcript in some of the studies, the majority demonstrated that transcript type did not have an impact on progression-free and overall survival. Treatment-free remission currently is a topic of much interest, and to the authors' knowledge there are limited data with conflicting results regarding the possible effects of transcript types on the outcomes of patients after discontinuation of TKIs. Because having the e14a2 transcript appears to be related to a favorable outcome, choosing second-generation TKIs for frontline therapy might be a convenient approach in patients with chronic myeloid leukemia with the e13a2 transcript. The authors believe this finding warrants further investigation.

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“…Co-expression of e13a2 and e14a2 transcripts has been reported in certain population groups: 13 per cent of Mexican, 2.5 per cent of Mexican Mestizos, 5.36 per cent of east Indian, 4.6 per cent of Sudanese and 4.38 per cent of north Indian population912131415. The occurrence of dual transcripts is not phase specific as it has been observed in all phases of the disease.…”

Section: Resultsmentioning

confidence: 97%

Dual transcripts of BCR-ABL & different polymorphisms in chronic myeloid leukaemia patients

et al. 2016

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Background & objectives:Chronic myeloid leukaemia is (CML) characterized by the presence of a hallmark chromosomal translocation, the Philadelphia chromosome. Although there are many reports available regarding the different variants of BCR-ABL in CML, we studied the co-expression of e13a2 and e14a2 transcripts and a few polymorphisms in CML patients.Methods:Molecular genetics approach was adapted to screen for polymorphisms, mutation and translocation in BCR, ABL kinase domain and BCR-ABL breakpoint region in 73 CML patients.Results:All eight patients with dual transcripts were found to harbour an exonic polymorphism (c.2700 T>C) and an intronic polymorphism (g.109366A>G) that were earlier reported to be associated with co-expression of both the transcripts. We also observed c.763G>A mutation in ABL kinase domain and two polymorphisms, c.2387 A>G and c.2736A>G in the BCR gene.Interpretation & conclusions:Though our data support the previous findings that co-expression of BCR-ABL transcripts is due to the occurrence of exonic and intronic polymorphisms in the BCR gene, it also shows that the intronic polymorphism can arise without the linked exonic polymorphism. The occurrence of ABL kinase domain mutation is less frequent in Indian population.

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

Cited by 22 publications

References 17 publications

Myeloid Leukemia: A Molecular Focus on Etiology and Risk Within Africa

Myeloid Leukemia: A Molecular Focus on Etiology and Risk Within Africa

The impact of BCR‐ABL1 transcript type on tyrosine kinase inhibitor responses and outcomes in patients with chronic myeloid leukemia

Dual transcripts of BCR-ABL & different polymorphisms in chronic myeloid leukaemia patients

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