Multiplex RT-PCR Assay for Detection of Common Fusion Transcripts in Acute Lymphoblastic Leukemia and Chronic Myeloid Leukemia Cases

Limsuwanachot, Nittaya; Siriboonpiputtana, Teerapong; Karntisawiwat, Kanlaya; Chareonsirisuthigul, Takol; Chuncharunee, Suporn; Rerkamnuaychoke, Budsaba

doi:10.7314/apjcp.2016.17.2.677

Cited by 5 publications

(4 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“… 17 This technique accurately identifies the transcript at diagnosis and allows follow-up at the molecular level. 17 , 18 RT-qualitative/quantitative PCR is useful to identify the typical transcripts (e13a2 or e14a2) at baseline and to monitor their quantitative fluctuations during the treatment. Atypical transcripts may yield a false negative PCR using routine primer/probe sets in qualitative or quantitative reverse transcriptase PCR protocols.…”

Section: Introductionmentioning

confidence: 99%

Prognostic Significance of Transcript-Type BCR‐ABL1 in Chronic Myeloid Leukemia

Molica

Abruzzese²,

Breccia³

2020

Mediterr J Hematol Infect Dis

View full text Add to dashboard Cite

Chronic myeloid leukemia (CML) is characterized by the presence of the BCR-ABL1 fusion gene. In more than 95% of CML patients, the typical BCR-ABL1 transcript subtypes are e13a2 (b2a2), e14a2 (b3a2), or the simultaneous expression of both. Other less frequent transcript subtypes, such as e1a2, e2a2, e6a2, e19a2, e1a3, e13a3, and e14a3, have been sporadically reported. The main purpose of this review is to assess the possible impact of different transcripts on the response rate to tyrosine kinase inhibitors (TKIs), the achievement of stable deep molecular responses (s-DMR), the potential maintenance of treatment-free remission (TFR), and long-term outcome of CML patients treated with TKIs. According to the majority of published studies, patients with e13a2 transcript treated with imatinib have lower and slower cytogenetic and molecular responses than those with e14a2 transcript and should be considered a high-risk group who would mostly benefit from frontline treatment with second-generation TKIs (2GTIKIs). Although few studies have been published, similar significant differences in response rates to 2GTKIs have been not reported. The e14a2 transcript seems to be a favorable prognostic factor for obtaining s-DMR, irrespective of the TKI received, and is also associated with a very high rate of TFR maintenance. Indeed, patients with e13a2 transcript achieve a lower rate of s-DMR and experience a higher probability of TFR failure. According to most reported data in the literature, the type of transcript does not seem to affect long-term outcomes of CML patients treated with TKIs. In TFR, the e14a2 transcript appears to be related to favorable responses. 2GTKIs as frontline therapy might be a convenient approach in patients with e13a2 transcript to achieve optimal long-term outcomes.

show abstract

Section: Introductionmentioning

confidence: 99%

Prognostic Significance of Transcript-Type BCR‐ABL1 in Chronic Myeloid Leukemia

Molica

Abruzzese²,

Breccia³

2020

Mediterr J Hematol Infect Dis

View full text Add to dashboard Cite

show abstract

“…Recently, a new method has been developed by a Japanese team, entitled in-house RQ-PCR due to its conception in their laboratory, for MRD detection and monitoring. The clinical trials revealed that this technique appears to be well standardized, very effective and sensitive in the detection of MRD and could eventually be advantageous for hospital laboratories [63].…”

Section: Molecular Response Monitoring and Assessment Of Minimal Resi...mentioning

confidence: 99%

Chronic myeloid leukemia: cytogenetics and molecular biology’s part in the comprehension and management of the pathology and treatment evolution

Benchikh

Bousfiha

Hamouchi

et al. 2022

Egypt J Med Hum Genet

View full text Add to dashboard Cite

Background Chronic myelogenous leukemia (CML) is a type of blood cancer that affects hematopoietic stem cells and is often characterized by the presence of the Philadelphia chromosome. The Philadelphia chromosome encodes for a protein with high tyrosine kinase activity which acts as a tumorigenic factor. Main body This review article reports an update on the pathophysiology of CML and highlights the role of cytogenetic and molecular biology in screening, diagnosis, therapeutic monitoring as well as evaluating patients’ response to treatment. Additionally, these genetic tests allow identifying additional chromosomal abnormalities (ACA) and BCR-ABL tyrosine kinase domain mutations in intolerant or resistant patients. Thus, therapeutic advances have enabled this pathology to become manageable and almost curable in its clinical course. The scientific literature search used in the synthesis of this paper was carried out in the PubMed database, and the figures were generated using online software named BioRender. Conclusion The role of cytogenetic and molecular biology is crucial for the diagnosis and medical monitoring of patients. In-depth knowledge of molecular mechanisms of the BCR-ABL kinase facilitated the development of new targeted therapies that have improved the vital prognosis in patients. However, the emergence of ACA and new mutations resistant to tyrosine kinase inhibitors constitutes a real challenge in the quest for adequate therapy.

show abstract

“…La frecuencia del gen de fusión ETV6/RUNX1 en este estudio (11,5%), estuvo por debajo de lo reportado en gran parte de la literatura (25%) (Pui et al, 2008). Sin embargo, trabajos realizados en México (7,2%) (Guerra et al, 2016) y Tailandia (4,2%) (Limsuwanachot et al, 2016), también han reportado porcentajes más bajo de lo frecuente. Aunque la mayoría de las publicaciones asocian esta alteración con un pronóstico favorable, particularmente en la población pediátrica, existen estudios que demuestran lo contrario; de hecho, hay evidencia que la presencia de anormalidades cromosómicas secundarias tales como la deleción del alelo ETV6 no translocado, la duplicación del cromosoma 21, alteraciones genéticas submicroscópicas en los genes EBF1, PAX5, BTLA, NR3C1, TOX, BMF, TBL1XR1 y BTG1, influirían adversamente en el curso clínico de los pacientes ETV6/RUNX1 + (Mullighan et al, 2008).…”

Section: I S C U S I ó Nunclassified

“…Comparando la frecuencia obtenida en la población venezolana para el oncogén BCR/ABL1 con lo observado en otros países, podemos decir que tenemos una frecuencia alta de presentación de este oncogén (específicamente la variante p190 fue la que se presentó con mayor porcentaje), particularmente tomando en cuenta que la mayor parte de la población estudiada estuvo conformada por pacientes pediátricos (Limsuwanachot et al, 2016;Carranza et al, 2013). De manera interesante, se lograron detectar pacientes que presentaron ambas variantes al mismo tiempo (p190 y p210), todos pertenecientes a la población pediátrica.…”

Section: I S C U S I ó Nunclassified

Untitled

2020

BAG

View full text Add to dashboard Cite

Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1,000,000 in humans per year, typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutation in the prion protein gene (PRNP), account for an estimated 10 to 15 % of all CJD cases. Familial CJD is transmitted with an autosomal dominant inheritance pattern with high penetrance. Worldwide, the most common mutation is E200K (glutamate to lysine). We report four families with CJD assisted in Neuquén Hospital in 2018. Three of the four index cases had family history of neurological and psychiatric illness, though data was not taken into consideration at the moment of evaluation of the new cases. The most significant data recorded for a genetic consultation was when the problem had started, and it was required by a neurologist. The initial symptoms were persistent insomnia and depression with poor response to habitual psychiatric medication. Impoverishment is fast with visual disorder, myoclonias, ataxia, dementia and loss of language. Pedigree analysis allowed the identification of 144persons with the gene potential, who can develop the disease at any time in their adulthood. In all cases, mutation E200K was identified. There is a region of increased frequency of CJD. There must be suspicion on patients with neuropsychiatric symptoms and suspected family history(familiar background). Finding of the mutation confirms the diagnosis in patients and allows the identification on pre-symptomatic individuals. Challenge is posed on gene advice and to avoid iatrogenic disorder transmission.

show abstract

Multiplex RT-PCR Assay for Detection of Common Fusion Transcripts in Acute Lymphoblastic Leukemia and Chronic Myeloid Leukemia Cases

Cited by 5 publications

References 47 publications

Prognostic Significance of Transcript-Type BCR‐ABL1 in Chronic Myeloid Leukemia

Prognostic Significance of Transcript-Type BCR‐ABL1 in Chronic Myeloid Leukemia

Chronic myeloid leukemia: cytogenetics and molecular biology’s part in the comprehension and management of the pathology and treatment evolution

Untitled

Contact Info

Product

Resources

About