Laurence Brugières
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View article: Leukoencephalopathy, a Frequent Complication After High‐Dose Methotrexate in Treatment of Osteosarcoma
Leukoencephalopathy, a Frequent Complication After High‐Dose Methotrexate in Treatment of Osteosarcoma Open
Background Methotrexate‐associated leukoencephalopathy is poorly documented in osteosarcoma. Since 2007, our institution has monitored osteosarcoma patients with sequential magnetic resonance imaging (MRI) and neuropsychological evaluation…
View article: Circulating tumor DNA in ALK-positive anaplastic large cell lymphoma: a proof-of-concept study
Circulating tumor DNA in ALK-positive anaplastic large cell lymphoma: a proof-of-concept study Open
In this multicenter study, we were able to detect circulating tumor DNA (ctDNA) in 87.5% of patients with the rare disease ALK + ALCL. Moreover, by analyzing ctDNA from samples collected at disease progression, we were able to identify res…
View article: Association Between Perinatal Factors and Childhood Lymphoma—A Pooled Analysis of the ESCALE and ESTELLE Studies (SFCE)
Association Between Perinatal Factors and Childhood Lymphoma—A Pooled Analysis of the ESCALE and ESTELLE Studies (SFCE) Open
Context There is much interest in the perinatal period in relation to childhood cancer aetiology, with most studies focussing on childhood leukaemia. This work aimed to investigate the associations between pregnancy‐related and perinatal f…
View article: Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve
Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve Open
The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic heterogeneity. In contrast, the causes of diminished ovarian reserve (DOR) remain poo…
View article: ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management Open
Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal tract malignancies, and is associated with several non…
View article: Li–Fraumeni‐associated osteosarcomas: The French experience
Li–Fraumeni‐associated osteosarcomas: The French experience Open
Purpose Describe clinical characteristics and outcome of Li–Fraumeni syndrome (LFS)‐associated osteosarcomas. Methods TP53 germline pathogenic/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 w…
View article: Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort
Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort Open
Background Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of malignancies, including non‐Hodgkin lymphomas (NHL). Most patients die due to canc…
View article: Li-Fraumeni associated osteosarcomas: the French experience.
Li-Fraumeni associated osteosarcomas: the French experience. Open
Purpose : Describe clinical characteristics and outcome of Li-Fraumeni-associated osteosarcomas. Methods : TP53 germline pathogenic/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 were identif…
View article: Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022 Open
View article: Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients
Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients Open
View article: NFS-02. MEDULLOBLASTOMAS WITH ELP1 PATHOGENIC VARIANTS: A WEAKLY PENETRANT SYNDROME WITH A RESTRICTED SPECTRUM IN A LIMITED AGE WINDOW
NFS-02. MEDULLOBLASTOMAS WITH ELP1 PATHOGENIC VARIANTS: A WEAKLY PENETRANT SYNDROME WITH A RESTRICTED SPECTRUM IN A LIMITED AGE WINDOW Open
BACKGROUND Medulloblastomas (MB) Sonic hedgehog (SHH) subtype are associated with a cancer predisposition syndrome (CPS) in about 15% of cases, the most frequent being related to ELP1 pathogenic variant (PV). The aim of our study is to bet…
View article: Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer Open
View article: Prognostic value of hemogram parameters in osteosarcoma: The French OS2006 experience
Prognostic value of hemogram parameters in osteosarcoma: The French OS2006 experience Open
Background Previous studies have shown that neutrophil‐to‐lymphocyte (NLR) ratio at diagnosis and early lymphocytes recovery on doxorubicin‐based chemotherapy, may impact the outcome in patients with osteosarcoma (OST). This study aimed to…
View article: Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma
Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma Open
View article: Mutational signature, cancer driver genes mutations and transcriptomic subgroups predict hepatoblastoma survival
Mutational signature, cancer driver genes mutations and transcriptomic subgroups predict hepatoblastoma survival Open
Response to neoadjuvant chemotherapy and survival in children treated for hepatoblastoma are associated with genomic and pathological features independently of the clinical features.
View article: Medulloblastomas with <i>ELP1</i> pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window
Medulloblastomas with <i>ELP1</i> pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window Open
Background ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndr…
View article: Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome
Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome Open
Background Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition due to biallelic mutations in one of the mismatch repair (MMR) genes associated with early onset of cancers, especially high-grade gliomas. Our aim was…
View article: ctDNA quantification improves estimation of outcomes in patients with high-grade osteosarcoma: a translational study from the OS2006 trial
ctDNA quantification improves estimation of outcomes in patients with high-grade osteosarcoma: a translational study from the OS2006 trial Open
View article: Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients
Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients Open
In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout the care pathway. The discovery of potential predisposition in this context is sometimes car…
View article: Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer Open
View article: Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer Open
View article: Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma
Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma Open
View article: Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency Open
Differential diagnosis between constitutional mismatch repair deficiency (CMMRD) and neurofibromatosis type 1 (NF1 ) is crucial as treatment and surveillance differ. We report the case of a girl with a clinical diagnosis of sporadic NF1 wh…
View article: Efficacy and safety of crizotinib in ALK-positive systemic anaplastic large-cell lymphoma in children, adolescents, and adult patients: results of the French AcSé-crizotinib trial
Efficacy and safety of crizotinib in ALK-positive systemic anaplastic large-cell lymphoma in children, adolescents, and adult patients: results of the French AcSé-crizotinib trial Open
View article: Targeting CCR7-PI3Kγ overcomes resistance to tyrosine kinase inhibitors in ALK-rearranged lymphoma
Targeting CCR7-PI3Kγ overcomes resistance to tyrosine kinase inhibitors in ALK-rearranged lymphoma Open
Anaplastic lymphoma kinase (ALK) tyrosine kinase inhibitors (TKIs) show potent efficacy in several ALK-driven tumors, but the development of resistance limits their long-term clinical impact. Although resistance mechanisms have been studie…
View article: Patient‐derived xenograft models of <scp>ALK</scp>+ <scp>ALCL</scp> reveal preclinical promise for therapy with brigatinib
Patient‐derived xenograft models of <span>ALK</span>+ <span>ALCL</span> reveal preclinical promise for therapy with brigatinib Open
Summary Anaplastic large‐cell lymphoma (ALCL) is a T‐cell malignancy predominantly driven by the oncogenic anaplastic lymphoma kinase (ALK), accounting for approximately 15% of all paediatric non‐Hodgkin lymphoma. Patients with central ner…
View article: A joint international consensus statement for measuring quality of survival for patients with childhood cancer
A joint international consensus statement for measuring quality of survival for patients with childhood cancer Open
View article: Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study Open
View article: Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters Open
View article: Data from Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer
Data from Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer Open
Pediatric liver cancers (PLC) comprise diverse diseases affecting infants, children, and adolescents. Despite overall good prognosis, PLCs display heterogeneous response to chemotherapy. Integrated genomic analysis of 126 pediatric liver t…