Failure of molecular diagnostics in chronic myeloid leukemia: an aberrant form of e13a2<i>BCR–ABL</i>transcript causing false-negative results by standard polymerase chain reaction

Jurček, Tomáš; Rázga, Filip; Ježíšková, Ivana; Dvořáková, Dana; Žáčková, Daniela; Tomášiková, Lenka; Oltová, Alexandra; Mayer, Jiřı́

doi:10.3109/10428190903572219

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…In chronic myeloid leukemia (CML), BCR-ABL fusion (e13a2 and e14a2) is one of the most common molecular alterations [82]. A standard PCR test may provide false-negative results in diagnosing e13a2 BCR-ABL fusion in CML [18]. Cordeiro et al (2016) [82] developed AuNPs-based gold-nano beacons (Au-Nbac), in combination with Förster resonance energy transfer-based spectral codification, to detect e13a2 and e14a2 fusion.…”

Section: Nucleic-acids Biomarker Detectionmentioning

confidence: 99%

“…Immunotherapy, radioimmunotherapy, radiotherapy, chemotherapy, hematopoietic-cell transplantation, and BM transplantation improve the survival of patients with HMs [13][14][15][16]. However, due to the heterogeneity and long-term indolent phase, early diagnosis and treatment of HMs remain a challenging issue [12,[17][18][19]. Additionally, following therapy, accurate diagnosis of MRD sometimes could not be possible due to false-negative or false-positive results from PCR, FC, and NGS tests [20][21][22].…”

Section: Introductionmentioning

confidence: 99%

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Theranostic Potentials of Gold Nanomaterials in Hematological Malignancies

Shakil

Niloy

Mahmud

et al. 2022

Cancers

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Hematological malignancies (HMs) are a heterogeneous group of blood neoplasia generally characterized by abnormal blood-cell production. Detection of HMs-specific molecular biomarkers (e.g., surface antigens, nucleic acid, and proteomic biomarkers) is crucial in determining clinical states and monitoring disease progression. Early diagnosis of HMs, followed by an effective treatment, can remarkably extend overall survival of patients. However, traditional and advanced HMs’ diagnostic strategies still lack selectivity and sensitivity. More importantly, commercially available chemotherapeutic drugs are losing their efficacy due to adverse effects, and many patients develop resistance against these drugs. To overcome these limitations, the development of novel potent and reliable theranostic agents is urgently needed to diagnose and combat HMs at an early stage. Recently, gold nanomaterials (GNMs) have shown promise in the diagnosis and treatment of HMs. Magnetic resonance and the surface-plasmon-resonance properties of GNMs have made them a suitable candidate in the diagnosis of HMs via magnetic-resonance imaging and colorimetric or electrochemical sensing of cancer-specific biomarkers. Furthermore, GNMs-based photodynamic therapy, photothermal therapy, radiation therapy, and targeted drug delivery enhanced the selectivity and efficacy of anticancer drugs or drug candidates. Therefore, surface-tuned GNMs could be used as sensitive, reliable, and accurate early HMs, metastatic HMs, and MRD-detection tools, as well as selective, potent anticancer agents. However, GNMs may induce endothelial leakage to exacerbate cancer metastasis. Studies using clinical patient samples, patient-derived HMs models, or healthy-animal models could give a precise idea about their theranostic potential as well as biocompatibility. The present review will investigate the theranostic potential of vectorized GNMs in HMs and future challenges before clinical theranostic applications in HMs.

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Section: Nucleic-acids Biomarker Detectionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Theranostic Potentials of Gold Nanomaterials in Hematological Malignancies

Shakil

Niloy

Mahmud

et al. 2022

Cancers

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“…Insertion of 21 nucleotides of ABL1 intron 1 at the BCR-ABL1 fusion site was first described in a CML patient in 1998 by Rubinstein and Purves [9]. Other variable size insertions of ABL1 intron 1 with apparent false-negative result in RT-qPCR were described in subsequent years [9][10][11]. Despite qualitative NESTED PCR and Sanger sequencing remain useful to diagnose and identify the BCR-ABL1 transcripts, ddPCR technology have been effective in quantifying atypical BCR-ABL1 fusions in Ph+ leukemia, leading an absolute quantification without the need of a standard curve preparation.…”

mentioning

confidence: 98%

Characterization and monitoring by droplet digital PCR of a novel BCR-ABL1 fusion transcript in a patient with chronic myeloid leukemia

Petiti¹,

Dragani²,

Castelli³

et al. 2020

J Transl Sci

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Characterization of a novel variant BCR–ABL1 fusion transcript in a patient with chronic myeloid leukemia

Crampe

Haslam

Kelly

et al. 2017

Hematology/Oncology and Stem Cell Therapy

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Molecular monitoring of BCR-ABL1 transcript levels using quantitative polymerase chain reaction is an essential part of the modern management of chronic myeloid leukemia patients treated with tyrosine kinase inhibitors. Establishing the diagnostic BCR-ABL1 fusion transcript is necessary in order to select appropriate primers and probes for such monitoring. A case is described in which quantitative polymerase chain reaction failed to detect the presence of BCR-ABL1 fusion transcript in a Philadelphia chromosome-positive chronic myeloid leukemia patient. Further investigation demonstrated a novel in-frame BCR-ABL1 fusion transcript with a breakpoint in BCR exon 13 and insertion of a sequence of ABL1 intron 1, therefore enabling subsequent molecular monitoring. This case highlights the requirement for characterization of the BCR-ABL1 transcript type at chronic myeloid leukemia diagnosis. Issues concerning standardized methodological approaches and interpretation of transcript levels in such rare cases are discussed.

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Failure of molecular diagnostics in chronic myeloid leukemia: an aberrant form of e13a2BCR–ABLtranscript causing false-negative results by standard polymerase chain reaction

Cited by 4 publications

References 11 publications

Theranostic Potentials of Gold Nanomaterials in Hematological Malignancies

Theranostic Potentials of Gold Nanomaterials in Hematological Malignancies

Characterization and monitoring by droplet digital PCR of a novel BCR-ABL1 fusion transcript in a patient with chronic myeloid leukemia

Characterization of a novel variant BCR–ABL1 fusion transcript in a patient with chronic myeloid leukemia

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