ArticleOncotarget2016
Droplet digital PCR analysis of NOTCH1 gene mutations in chronic lymphocytic leukemia.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Review
- Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?Frontiers in oncology · 2023Review
- The evolving use of measurable residual disease in chronic lymphocytic leukemia clinical trials.Frontiers in oncology · 2023Review
- Multiple Mechanisms of NOTCH1 Activation in Chronic Lymphocytic Leukemia: NOTCH1 Mutations and Beyond.Cancers · 2022Review
- Digital Droplet PCR in Hematologic Malignancies: A New Useful Molecular Tool.Diagnostics (Basel, Switzerland) · 2022Review
- The Predominant Prognostic Significance ofCancer management and research · 2021Article
- NOTCH1 Activation Negatively Impacts on Chronic Lymphocytic Leukemia Outcome and Is Not Correlated to theFrontiers in oncology · 2021Article
- Digital PCR: A Reliable Tool for Analyzing and Monitoring Hematologic Malignancies.International journal of molecular sciences · 2020Review
- Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia.International journal of molecular sciences · 2020Review
- A novel deep targeted sequencing method for minimal residual disease monitoring in acute myeloid leukemia.Haematologica · 2019Article
- Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.Scientific reports · 2018Article
- NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.Frontiers in oncology · 2018Review
- Current and Emerging Applications of Droplet Digital PCR in Oncology.Molecular diagnosis & therapy · 2017Review
- Assessment of the interlaboratory variability and robustness of JAK2V617F mutation assays: A study involving a consortium of 19 Italian laboratories.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In chronic lymphocytic leukemia (CLL), NOTCH1 gene mutations (NOTCH1mut) have been associated with adverse prognostic features but the independence of these as a prognostic factor is still controversial. In our study we validated a c.7541-7542delCT NOTCH1 mutation assay based on droplet digital PCR (ddPCR); we also analyzed the NOTCH1mut allelic burden, expressed as fractional abundance (FA), in 88 CLL patients at diagnosis to assess its prognostic role and made a longitudinal ddPCR analysis in 10 cases harboring NOTCH1mut to verify the FA variation over time. Our data revealed that with the ddPCR approach the incidence of NOTCH1mut in CLL was much higher (53.4%) than expected. However, longitudinal ddPCR analysis of CLL cases showed a statistically significant reduction of the NOTCH1mut FA detected at diagnosis after treatment (median FA 11.67 % vs 0.09 %, respectively, p = 0.01); the same difference, in terms of NOTCH1mut FA, was observed in the relapsed cases compared to the NOTCH1mut allelic fraction observed in patients in complete or partial remission (median FA 4.75% vs 0.43%, respectively, p = 0.007). Our study demonstrated a much higher incidence of NOTCH1mut in CLL than has previously been reported, and showed that the NOTCH1mut allelic burden evaluation by ddPCR might identify patients in need of a closer clinical follow-up during the "watch and wait" interval and after standard chemotherapy.
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