Publications by authors named "Lucile Bessi"
Article Synopsis
- Alpha-thalassaemia alleles are common globally, primarily due to large deletions that result in the loss of one or two alpha genes.
- A rarer condition involves the gain of alpha genes, leading to excess alpha-globin chains, which can worsen beta-thalassaemia traits into a non-transfusion-dependent phenotype.
- A young girl was reported with a unique combination of a heterozygous beta-thalassaemia mutation and both a gain of alpha-globin copies and -alpha 3.7 deletion on the same allele, marking a novel case in the literature.
The relevance of circulating tumor DNA (ctDNA) analysis as a liquid biopsy and minimal residual disease tool in the management of classical Hodgkin Lymphoma (cHL) patients was demonstrated in retrospective settings and remains to be confirmed in a prospective setting. We developed a targeted Next-Generation sequencing (NGS) panel for fast analysis (AmpliSeq technology) of nine commonly mutated genes in biopies and ctDNA of cHL patients. We then conducted a prospective trial to assess ctDNA follow up at diagnosis and after 2 cycles of chemotherapy (C2).
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