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Added value of molecular karyotype in childhood acute lymphoblastic leukemia

Cancer Innovation 2023年第6期2卷 513-523页

作者： Margaux Camuset Baptiste Le Calvez olivier theisen.catherin. godon.audrey grain.carolin. thomas Marie-Laure Couec Marie C.Béné Fanny Rialland Marion Eveillard Pediatric Oncology CHU NantesNantes UniversitéUniv AngersINSERMCNRSCRCI2NANantesFrance Hematology Biology CHU NantesNantes UniversitéUniv AngersINSERMCNRSCRCI2NANantesFrance

Background:Thanks to an improved therapeutic regimen in childhood B-cell precursor acute lymphoblastic leukemia(BCP-ALL),5 year-overall survival now exceeds 90%.Unfortunately,the 25%of children who relapse have an initial poor prognosis,potentially driven by pre-existing or emerging molecular *** latter are initially and essentially identified by ***,some subtle alterations are not visible through ***:Single nucleotide polymorphisms(SNP)array is an alternative way of chromosomal analysis allowing for a more in-depth evaluation of chromosomal modifications such as the assessment of copy number alterations(CNA)and loss of heterozygosity(LOH).This method was applied here in retrospective diagnosis/relapse paired samples from seven children with BCP-ALL and in a prospective cohort of 38 newly diagnosed childhood ***:In the matched study,compared to the initial karyotype,SNP array analysis reclassified two patients as poor prognosis *** during relapse was seen for 4 CNA and 0.9 *** the prospective study,SNP reclassified the 10 patients with intermediate karyotype as 7 good prognosis and 3 poor ***,in all the children tested,SNP array allowed to identify additional anomalies compared to conventional karyotype,refine its prognostic value and identify some druggable anomalies that could be used for precision ***,the anomalies detected could be segregated in four groups respectively involved in B-cell development,cell proliferation,transcription and molecular ***:SNP therefore appears to be a method of choice in the integrated diagnosis of BCP ALL,especially for patients initially classified as intermediate *** complementary method of both cytogenetics and high throughput sequencing allows to obtain further classified information and can be useful in case of failure of these techniques.

关键词： BCP-ALL karyotype pediatric patients prognosis SNP array

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