- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Immunodeficiency and Autoimmune Disorders
- Acute Lymphoblastic Leukemia research
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Telomeres, Telomerase, and Senescence
- Cancer-related Molecular Pathways
- Chronic Myeloid Leukemia Treatments
- Advanced Breast Cancer Therapies
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- Chromosomal and Genetic Variations
- Sarcoma Diagnosis and Treatment
- Glycosylation and Glycoproteins Research
- Congenital Anomalies and Fetal Surgery
- Eosinophilic Disorders and Syndromes
- Renal and related cancers
- PI3K/AKT/mTOR signaling in cancer
- Histone Deacetylase Inhibitors Research
- Viral-associated cancers and disorders
- Phagocytosis and Immune Regulation
- Click Chemistry and Applications
- Ovarian cancer diagnosis and treatment
Génétique Médicale & Génomique Fonctionelle
2012-2025
Université Clermont Auvergne
2013-2024
Centre Hospitalier Universitaire de Clermont-Ferrand
2011-2024
Clermont Université
2007-2022
Inserm
2017-2022
Imagerie Moléculaire et Stratégies Théranostiques
2017-2019
Centre Jean Perrin
2006-2013
Genetique Reproduction and Developpement
2012
Waldenström's macroglobulinemia is a disease of mature B cells, the genetic basis which poorly understood. Few recurrent chromosomal abnormalities have been reported, and their prognostic value not known. We conducted prospective cytogenetic study examined aberrations in an international randomized trial. The main were 6q deletions (30%), trisomy 18 (15%), 13q (13%), 17p (TP53) (8%), 4 11q (ATM) (7%). There was significant association between chromosome 18. Translocations involving IGH genes rare (
Interleukin-6 (IL-6) is known to promote tumour growth and survival. We evaluated IL-6 gene amplification in tumours from 53 glioma patients using fluorescence situ hybridisation. Amplification events were detected only glioblastomas (15 out of 36 cases), the most malignant tumours, significantly associated with decreased patient
Upregulation of the telomerase reverse transcriptase (TERT) gene in human cancers leads to activation, which contributes growth advantage and survival tumor cells. Molecular mechanisms TERT upregulation are complex, tumor-specific can be clinically relevant. To investigate these breast cancer, we sequenced promoter, evaluated copy number changes assessed expression MYC oncogene, a known transcriptional regulator, two cancer cohorts comprising total 122 patients. No activating promoter...
Cytogenetic aberrations are found in 65% of adults and 75% children with acute leukemia. Specific used as markers for the prognostic stratification patients. The current standard cytogenetic procedure leukemias is karyotyping combination FISH RT-PCR. Optical genome mapping (OGM) a new technology providing precise identification chromosomal abnormalities single approach. In our prospective study, results obtained using OGM techniques were compared 29 cases myeloid (AML) or lymphoblastic...
Abstract Dysfunctional telomeres and DNA damage repair (DDR) play important roles in cancer progression. Studies have reported correlations between these factors tumour aggressiveness clinical outcome breast cancer. We studied the characteristics of expression ERCC1, a protein involved number pathways telomere homeostasis, to assess their prognostic value, alone or combination, 90 residual tumours after treatment with neoadjuvant chemotherapy (NCT). ERCC1 status was investigated at different...
Deletions of the long arm chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 CLL and 27 small lymphoma (SLL), largest reported series to date. Using karyotype fluorescence situ hybridization (FISH), most frequent additional abnormality was trisomy 12 (tri12), 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80,...
// Romain Guièze 1, 2 , Mélanie Pages 3, 4 Lauren Véronèse 5, 6, 7 Patricia Combes Richard Lemal Mathilde Gay-bellile Martine Chauvet 8, 9 Mary Callanan Fabrice Kwiatkowski 7, 10 Bruno Pereira 11 Philippe Vago Jacques-Olivier Bay Olivier Tournilhac Andreï Tchirkov 1 CHU Clermont-Ferrand, Hématologie Clinique, France EA 7283 CREaT, Université d'Auvergne, 3 Department de Neuropathologie, Hôpital Sainte-Anne, Paris, Paris Descartes, 5 Clermont UFR Médecine, Cytologie Histologie Embryologie...
Chronic lymphocytic leukemia (CLL) with 17p deletion (17p-) is associated a lack of response to standard treatment and thus the worst possible clinical outcome. Various chromosomal abnormalities (including unbalanced translocations, deletions, ring chromosomes isochromosomes) result in loss one copy TP53 gene. The objective present study was determine whether type abnormality leading 17p- additional aberrations influenced prognosis series 195 patients 17p-CLL. Loss resulted primarily from an...
Clonal chromosome abnormalities in Philadelphia-negative cells could concern chronic myeloid leukemia patients treated by tyrosine kinase inhibitors. The European LeukemiaNet distinguishes -7/del(7q) as a "warning". However, the impact of clonal abnormalities, and specifically those -7/del(7q), on clinical outcomes is unclear based case-reports showing morphological dysplasia increased risk acute leukemia, suggesting coexistence high-risk myelodysplastic syndrome. aim this study was to...