Publications by authors named "Marc Lelorch"
Article Synopsis
- Recent advances in targeted therapies for acute myeloid leukemia (AML) have not significantly addressed many cases, especially those lacking actionable therapy targets.
- In a study of 127 AML cases, 40% showed alterations in RAS pathway genes, which correlated with worse outcomes and survival rates for patients.
- The combination of the MEK inhibitor trametinib and the anti-helminthic drug pyrvinium pamoate showed promising antileukemic effects in both laboratory tests and mouse models, suggesting a potential new treatment strategy for RAS+ AML.
Article Synopsis
- Structural variants (SVs), like copy number variants (CNVs) and balanced chromosome rearrangements (ABCRs), are often difficult to detect using traditional short-read sequencing methods due to repetitive sequences, which makes long-read technologies like 10X Genomics' Chromium an interesting alternative.* -
- In a study involving 13 patients, short-read sequencing successfully identified known SVs in 10 of them, while the linked-read technology also detected 10 SVs, including one additional variant missed by the short-read method.* -
- Ultimately, the study concluded that the 10X Genomics linked-read strategy did not significantly enhance the detection or characterization of SVs compared to the short-read sequencing approach.*
Article Synopsis
- The study focuses on chromosomal translocations involving T-cell receptor (TCR) loci in T-cell acute lymphoblastic leukemia (T-ALL), which are common mutations thought to arise from faulty DNA recombination.
- Researchers screened 280 T-ALL samples and discovered four new oncogene partners associated with TCR translocations that haven’t been previously reported.
- The findings suggest that most oncogene breakpoints are not caused by recombination, and they reveal important differences in how TCRβ and TCRα/δ translocations activate oncogenes, indicating a need for early intervention in therapy.
In human B-acute lymphoblastic leukemia (B-ALL), RAG1-induced genomic alterations are important for disease progression. However, given that biallelic loss of the RAG1 locus is observed in a subset of cases, RAG1's role in the development of B-ALL remains unclear. We chose a p19Arf(-/-)Rag1(-/-) mouse model to confirm the previously published results concerning the contribution of CDKN2A (p19ARF /INK4a) and RAG1 copy number alterations in precursor B cells to the initiation and/or progression to B-acute lymphoblastic leukemia (B-ALL).
View Article and Find Full Text PDFSmall supernumerary marker chromosome (sSMC) is a structurally altered additional chromosome that may not be explicitly clarified by conventional karyotyping alone. About one third of sSMC carriers have abnormal phenotypes and its clinical correlation is difficult, especially in prenatal studies. The present study was aimed at characterizing 19 sSMC identified in 15 patients with dysmorphic features with or without multiple congenital anomalies, conspicuous family history, short stature and/or ambiguous genitalia.
View Article and Find Full Text PDFInterstitial deletions of 14q including band 14q31 are uncommon. We report on a 3 year-old Tunisian girl who had a de novo interstitial deletion of the long arm of chromosome 14. The molecular cytogenetic study has identified the deletion as a del(14)(q24.
View Article and Find Full Text PDFPreimplantation genetic diagnosis (PGD) is used to analyze embryos genetically before their transfer into the uterus. It was developed first in England in 1990, as part of progress in reproductive medicine, genetic and molecular biology. PGD offers couples at risk the chance to have an unaffected child, without facing termination of pregnancy.
View Article and Find Full Text PDFObjective: To investigate the evolution of techniques and strategies and to evaluate the results of preimplantation genetic diagnosis (PGD) from January 2000 to December 2004 in chromosomal, monogenic and mitochondrial DNA disorders treated at our institution.
Design: Retrospective study.
Setting: Single French Parisian PGD center.