Publications by authors named "Yasmine Iddir"
Purpose: The study of cell-free DNA (cfDNA) enables sequential analysis of tumor cell-specific genetic alterations in patients with neuroblastoma.
Experimental Design: Eighteen patients with relapsing neuroblastoma having received lorlatinib, a third-generation ALK inhibitor, were identified (SACHA national registry and/or in the institution). cfDNA was analyzed at relapse for nine patients and sequentially for five patients (blood/bone marrow plasma) by performing whole-genome sequencing library construction followed by ALK-targeted ddPCR of the hotspot mutations [F1174L, R1275Q, and I1170N; variant allele fraction (VAF) detection limit 0.
Article Synopsis
- Liquid biopsies using cerebrospinal fluid (CSF) cell-free DNA (cfDNA) are explored for detecting genetic changes in pediatric brain tumors, potentially offering better diagnostic information than plasma cfDNA.
- In a study involving various tumor types, sequencing of CSF cfDNA revealed informative results in 60% of samples, with significant findings related to single-nucleotide variations (SNVs) and copy number alterations (CNA).
- The results highlight the effectiveness of CSF cfDNA sequencing for molecular diagnosis and tracking of residual disease in pediatric embryonal brain tumors, indicating the need for further implementation of these methods.
Purpose: Total cell-free DNA (cfDNA) and tumor-derived cfDNA (ctDNA) can be used to study tumor-derived genetic aberrations. We analyzed the diagnostic and prognostic potential of cfDNA and ctDNA, obtained from pediatric patients with rhabdomyosarcoma.
Methods: cfDNA was isolated from diagnostic plasma samples from 57 patients enrolled in the EpSSG RMS2005 study.
Purpose: ALK-activating mutations are identified in approximately 10% of newly diagnosed neuroblastomas and ALK amplifications in a further 1%-2% of cases. Lorlatinib, a third-generation anaplastic lymphoma kinase (ALK) inhibitor, will soon be given alongside induction chemotherapy for children with ALK-aberrant neuroblastoma. However, resistance to single-agent treatment has been reported and therapies that improve the response duration are urgently required.
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- Rhabdomyosarcomas (RMS) are rare cancers in children and young adults, and the study seeks to explore the use of circulating tumor DNA (ctDNA) as a biomarker for disease monitoring and treatment response because suitable markers are currently lacking.
- The researchers used RMS mouse models and tested different techniques like PCR and ddPCR to detect ctDNA in blood samples, identifying mutations and alterations related to the disease.
- They found ctDNA in 14 out of 18 pretreatment plasma samples from RMS patients, with higher levels indicating more severe disease, suggesting that ctDNA can be a useful and less invasive tool for tracking RMS and evaluating treatment efficacy.
Article Synopsis
- * From 2016 to 2020, 787 patients were enrolled across four countries, with 69% showing genetic alterations that could guide targeted therapies, and 10% of those alterations ready for use in standard treatment.
- * The study found that 30% of patients followed for over a year received targeted treatments, resulting in a 17% overall response rate, which was higher (38%) for those with immediately actionable genetic changes.
Background: Paediatric tumours are often characterised by the presence of recurrent DNA copy number alterations (CNAs). These DNA copy number profiles, obtained from a tissue biopsy, can aid in the correct prognostic classification and therapeutic stratification of several paediatric cancer entities (e.g.
View Article and Find Full Text PDFIdiopathic ventricular fibrillation (IVF) causes sudden death in young adult patients without structural or ischemic heart disease. Most IVF cases are sporadic and some patients present with short-coupled torsade de pointes, the genetics of which are poorly understood. A man who had a first syncope at the age of 35 presented with frequent short-coupled premature ventricular beats with bursts of polymorphic ventricular tachycardia and then died suddenly.
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