Ultra-deep sequencing leads to earlier and more sensitive detection of the tyrosine kinase inhibitor resistance mutation T315I in chronic myeloid leukemia

Baer, Constance; Kern, Wolfgang; Koch, Stefanie; Nadarajah, Niroshan; Schindela, Sonja; Meggendorfer, Manja; Haferlach, Claudia; Haferlach, Torsten

doi:10.3324/haematol.2016.145888

Cited by 48 publications

(33 citation statements)

References 37 publications

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“…Therefore, the data are not sufficient to make suggestions regarding the choice of the TKI in the second-or subsequent-line setting, apart from the differential sensitivity in patients with the presence of BCR-ABL1 point mutations (Table 6). Because the detection of a mutation is the only factor that can specifically guide the choice of another TKI, 85 when a switch is planned for resistance/failure, a mutational analysis should always be performed using at least Sanger sequencing (SS), and whenever possible using next-generation sequencing (NGS), which is not yet widely available, but being more sensitive than SS [86][87][88][89][90] can avoid a wrong choice in up to 25% of cases. Whether mutational analysis should be performed in the case of nonoptimal response has been debated, but a consensus was not reached.…”

Section: The Choice Of the Tki: After First-linementioning

confidence: 99%

Managing chronic myeloid leukemia for treatment-free remission: a proposal from the GIMEMA CML WP

et al. 2019

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Several papers authored by international experts have proposed recommendations on the management of BCR-ABL1+ chronic myeloid leukemia (CML). Following these recommendations, survival of CML patients has become very close to normal. The next, ambitious, step is to bring as many patients as possible into a condition of treatment-free remission (TFR). The Gruppo Italiano Malattie EMatologiche dell’Adulto (GIMEMA; Italian Group for Hematologic Diseases of the Adult) CML Working Party (WP) has developed a project aimed at selecting the treatment policies that may increase the probability of TFR, taking into account 4 variables: the need for TFR, the tyrosine kinase inhibitors (TKIs), the characteristics of leukemia, and the patient. A Delphi-like method was used to reach a consensus among the representatives of 50 centers of the CML WP. A consensus was reached on the assessment of disease risk (EUTOS Long Term Survival [ELTS] score), on the definition of the most appropriate age boundaries for the choice of first-line treatment, on the choice of the TKI for first-line treatment, and on the definition of the responses that do not require a change of the TKI (BCR-ABL1 ≤10% at 3 months, ≤1% at 6 months, ≤0.1% at 12 months, ≤0.01% at 24 months), and of the responses that require a change of the TKI, when the goal is TFR (BCR-ABL1 >10% at 3 and 6 months, >1% at 12 months, and >0.1% at 24 months). These suggestions may help optimize the treatment strategy for TFR.

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Section: The Choice Of the Tki: After First-linementioning

confidence: 99%

Managing chronic myeloid leukemia for treatment-free remission: a proposal from the GIMEMA CML WP

et al. 2019

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“…Next‐generation sequencing (NGS) as an alternative method can provide enhanced sensitivity and earlier mutation detection. The NGS platform used most frequently for BCR‐ABL1 KD sequencing is 454 from Roche (Basel, Switzerland) (Machova Polakova et al ., ; Baer et al ., ; Soverini et al ., ; Erbilgin et al ., ). The use of Ion Torrent (Thermo Fisher Scientific, Waltham, MA, USA) technology and the widely implemented Illumina (San Diego, CA, USA) platform has been reported by fewer authors to date (Eyal et al ., ; Deininger et al ., ; Kizilors et al ., ).…”

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confidence: 97%

Novel Illumina‐based next generation sequencing approach with one‐round amplification provides early and reliable detection of BCR‐ABL1 kinase domain mutations in chronic myeloid leukemia

et al. 2020

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The occurrence of mutations in the BCR-ABL1 kinase domain (KD) can lead to treatment resistance in chronic myeloid leukaemia patients. Nowadays, next-generation sequencing (NGS) is an alternative method for the detection of kinase domain mutations, compared to routinely used Sanger sequencing, providing a higher sensitivity of mutation detection. However, in the protocols established so far multiple rounds of amplification limit reliable mutation detection to approximately 5% variant allele frequency. Here, we present a simplified, one-round amplification NGS protocol for the Illumina platform, which offers a robust early detection of BCR-ABL1 KD mutations with a reliable detection limit of 3% variant allele frequency.

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“…Lately, several NGS/Sanger comparison studies reported that Sanger sequencing had misclassified or underestimated kinase domain mutation status in up to 55% of samples, where mutations with 1-15% abundance were detected by NGS [10,25]. Other publications also demonstrated that NGS systems are able to detect mutation at much earlier time and, therefore, having higher predictive value of emerging drug-resistance mutation [9,26,27]. In our study, all detected mutations by NGS had minimum coverage of 5,000x, which allowed the detection sensitivity to 1% and below.…”

Section: Resultsmentioning

confidence: 97%

Utilization of Next-Generation Deep Sequencing to Analyze BCR-ABL1 Kinase Domain Mutation for Imatinib-Resistant Chronic Myeloid Leukemia Patients in Vietnam

Cq¹,

Nguyen²,

Tt³

et al. 2017

J Leuk

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Background: Chronic myeloid leukemia is a clonal myeloproliferative neoplasm, characterized by the presence of chromosomal translocation t(9; 22)(q34; q11). This is found in over 95% of the cases and results in the BCR-ABL1 fusion protein with high tyrosine kinase activity. During the last decades, imatinib and other generations of tyrosine kinase inhibitor have been used effectively for target therapy of the disease. However, many of the drug resistant cases have been reported recently, due to the mutation within kinase domain of the BCR-ABL1 fusion gene. In order to provide further information about this incidence, we performed a retrospective study of 141 imatinib-resistance chronic myeloid leukemia patients to analyze kinase domain mutation by deep sequencing. Another group of 20 untreated patients were added as control.

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Ultra-deep sequencing leads to earlier and more sensitive detection of the tyrosine kinase inhibitor resistance mutation T315I in chronic myeloid leukemia

Abstract: © Ferrata Storti Foundation

Cited by 48 publications

References 37 publications

Managing chronic myeloid leukemia for treatment-free remission: a proposal from the GIMEMA CML WP

Managing chronic myeloid leukemia for treatment-free remission: a proposal from the GIMEMA CML WP

Novel Illumina‐based next generation sequencing approach with one‐round amplification provides early and reliable detection of BCR‐ABL1 kinase domain mutations in chronic myeloid leukemia

Utilization of Next-Generation Deep Sequencing to Analyze BCR-ABL1 Kinase Domain Mutation for Imatinib-Resistant Chronic Myeloid Leukemia Patients in Vietnam

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