Étienne Rouleau , Lucie Karayan-Tapon , Marie-Dominique Galibert , Alexandre Harlé , Isabelle Soubeyran , membres du bureau du Groupe Francophone de Cytogénomique Oncologique (GFCO)
{"title":"Apport de la génomique dans la prise en charge des cancers","authors":"Étienne Rouleau , Lucie Karayan-Tapon , Marie-Dominique Galibert , Alexandre Harlé , Isabelle Soubeyran , membres du bureau du Groupe Francophone de Cytogénomique Oncologique (GFCO)","doi":"10.1016/S1773-035X(25)76280-2","DOIUrl":"10.1016/S1773-035X(25)76280-2","url":null,"abstract":"<div><h3>Résumé</h3><div>L’apport de la génomique dans la prise en charge des cancers est significative grâce à l’impact des nouvelles technologies de séquençage de nouvelle génération (NGS) sur la compréhension et le traitement des tumeurs. L’identification des mutations somatiques et constitutionnelles permet de classifier les cancers et de guider les traitements via une approche personnalisée. La tumorigénèse, l’évolution clonale et l’hétérogénéité tumorale obligent à avoir des techniques avec de plus en plus de gènes examinés et avec la capacité de mettre en évidence différents types d’altération. La résistance aux traitements justifie aussi l’utilisation de tests génétiques pour le suivi et l’adaptation thérapeutique. Les défis de la génomique des cancers sont maintenant l’interprétation et l’accès aux traitements.</div></div><div><h3>Abstract</h3><div>The contribution of genomics to cancer management is significant, thanks to the impact of next-generation sequencing (NGS) technologies on understanding and treating tumors. Identifying somatic and constitutional mutations allows for cancer classification and treatment guidance through a personalized approach. Tumorigenesis, clonal evolution, and tumor heterogeneity require techniques that examine an increasing number of genes and detect various types of alterations. Treatment resistance also justifies the use of genetic testing for monitoring and therapeutic adaptation. The current challenges in cancer genomics lie now in interpretation and access to treatments.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Pages 67-74"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Apport de la cytogénétique dans les hémopathies malignes","authors":"Julie Quessada , Florence Nguyen-Khac","doi":"10.1016/S1773-035X(25)76279-6","DOIUrl":"10.1016/S1773-035X(25)76279-6","url":null,"abstract":"<div><h3>Résumé</h3><div>Les hémopathies malignes constituent un groupe hétérogène de pathologies classées selon des critères clinico-biologiques comprenant entre autres la cytogénétique et la biologie moléculaire. La cytogénétique hématologique n’a cessé de se développer et fait partie des analyses réalisées systématiquement au diagnostic et au cours du suivi de la grande majorité des hémopathies malignes. Elle comprend le caryotype conventionnel et l’hybridation in situ fluorescente, ainsi que les puces génomiques et la cartographie optique du génome.</div><div>La mise en évidence d’anomalies chromosomiques spécifiques constitue une composante essentielle au diagnostic et oriente la prise en charge des patients. La cytogénétique apparaît aussi comme un des facteurs pronostiques indépendants les plus forts dans les classifications en vigueur. Elle permet de stratifier et d’identifier les patients à haut risque d’évolution, guidant ainsi la thérapeutique. Dans certains cas, elle permet lְ’utilisation de thérapies ciblées orientées par l’identification de certaines anomalies. La cytogénétique reste donc une pierre angulaire de la stratégie diagnostique, pronostique et théranostique en onco-hématologie.</div></div><div><h3>Abstract</h3><div>Hematological malignancies constitute a heterogeneous group of pathologies classified according to clinical and biological criteria including cytogenetics and molecular biology. Hematological cytogenetics continued its development and remains one of the analyses routinely performed for the diagnosis and follow-up of most hematological malignancies. It includes conventional karyotyping and fluorescence in situ hybridization, as well as genomic arrays and optical genome mapping.</div><div>The identification of specific chromosomal abnormalities is an essential component of diagnosis and guides patient management. Cytogenetics is also one of the strongest independent prognostic factors in current classifications. It can be used to stratify and identify patients with a higher risk of progression which allows to guide treatment. In certain cases, it opens to the use of targeted therapies based on the identification of specific abnormalities.</div><div>Cytogenetics therefore remains a cornerstone of the diagnostic, prognostic and theranostic strategy in onco-hematology.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Pages 61-66"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Substitution de médicament à l’officine: un texte important","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76270-X","DOIUrl":"10.1016/S1773-035X(25)76270-X","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Page 7"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Drépanocytose et numération formule sanguine : quand les réticulocytes envahissent les graphes","authors":"Estelle Fleuriot, Jean-Étienne Pilo, Aurore Bousquet","doi":"10.1016/S1773-035X(24)00401-5","DOIUrl":"10.1016/S1773-035X(24)00401-5","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2024 567","pages":"Pages 77-79"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143182544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Les IST, ce n’est pas que pour les jeunes !","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(24)00376-9","DOIUrl":"10.1016/S1773-035X(24)00376-9","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2024 567","pages":"Page 12"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143131221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}