Publications by authors named "Laura Rufian"

This study discusses the importance of minimal residual disease (MRD) detection in acute myeloid leukemia (AML) patients using liquid biopsy and next-generation sequencing (NGS). AML prognosis is based on various factors, including genetic alterations. NGS has revealed the molecular complexity of AML and helped refine risk stratification and personalized therapies.

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  • A study was conducted to evaluate the effectiveness of LiqBio, a liquid biopsy tool, for diagnosing and monitoring B-cell lymphomas (BCL) in 78 patients with different types of lymphomas.
  • Researchers compared mutations found in circulating free DNA (cfDNA) from LiqBio with those in tissue biopsies, identifying mutations in 71% of the cfDNA samples.
  • While LiqBio-MRD showed lower sensitivity compared to PET/CT for detecting minimal residual disease, it had higher specificity, suggesting it can complement traditional methods in monitoring patients.
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Background: CART therapy has produced a paradigm shift in the treatment of relapsing FL patients. Strategies to optimize disease surveillance after these therapies are increasingly necessary. This study explores the potential value of ctDNA monitoring with an innovative signature of personalized trackable mutations.

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In the present study, we screened 84 Follicular Lymphoma patients for somatic mutations suitable as liquid biopsy MRD biomarkers using a targeted next-generation sequencing (NGS) panel. We found trackable mutations in 95% of the lymph node samples and 80% of the liquid biopsy baseline samples. Then, we used an ultra-deep sequencing approach with 2 · 10 sensitivity (LiqBio-MRD) to track those mutations on 151 follow-up liquid biopsy samples from 54 treated patients.

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Chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML) are rare myeloid disorders that are challenging with regard to diagnosis and clinical management. To study the similarities and differences between these disorders, we undertook a multicenter international study of one of the largest case series (CNL, n = 24; aCML, n = 37 cases, respectively), focusing on the clinical and mutational profiles (n = 53 with molecular data) of these diseases. We found no differences in clinical presentations or outcomes of both entities.

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  • The study focuses on a new DNA-based next-generation sequencing (NGS) method for detecting and monitoring BCR::ABL1 KD mutations in patients with chronic myeloid leukemia (CML) and Philadelphia-positive acute lymphoblastic leukemia (ALL).
  • This NGS method shows high sensitivity (1.0E-4) and a strong correlation with an established RNA-based method, indicating that it can effectively quantify ABL1 mutations.
  • The study analyzed 162 samples from 129 patients, identifying significant mutations in both CML and B-ALL cases, including instances where mutations were detected at very low disease levels.
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  • Many studies have explored how changes in mitochondrial DNA (mtDNA) are linked to cancer development, but the specifics in multiple myeloma (MM) are still not well understood.
  • In this study, researchers found that mtDNA copy number (mtDNACN) significantly increased in MM cells compared to healthy cells, and higher mtDNACN correlated with worse progression-free survival outcomes in newly diagnosed MM patients.
  • The findings suggest that the activation of mitochondrial biogenesis plays a role in myeloma cell transformation, indicating potential treatment targets and the importance of monitoring mtDNACN for better clinical management of high-risk conditions like smoldering multiple myeloma (SMM).
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