Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterations

Genomics

Suvi Savola¹  Virinder Kaur Sarhadi¹  Anu Usvasalo¹  Ulla M. Saarinen-Pihkala¹  Sakari Knuutila¹  Anne Tyybäkinoja¹  Leo Lahti¹  Pekka Ellonen¹  Ilari Scheinin¹  Riikka Räty¹  Erkki Elonen¹ 

关键词: Next generation sequencing;    Chromosome 9;    9p deletion;    aCGH;    Copy number variations;   

DOI  :  10.1016/j.ygeno.2013.01.001

学科分类：医学（综合）

来源: Academic Press

【 摘 要 】

Geneticalterationsoftheshortarmofchromosome9arefrequentinacutelymphoblasticleukemia.Weperformedtargetedsequencingof9pregionin35adolescentandadultacutelymphoblasticleukemiapatientsandsoughttoinvestigatethesensitivityofdetectingcopynumberalterationsincomparisonwitharraycomparativegenomichybridization(aCGH),andbesides,todetectnovelgeneticanomalies.Wefoundahighconcordanceofcopynumbervariations(CNVs)asdetectedbynextgenerationsequencing(NGS)andaCGH.Bybothmethodologies,therecurrentdeletionatCDKN2A/Blocuswasidentified,whereasNGSrevealedadditional,smallregionsofCNVs,seenmorefrequentlyinadultpatients,whileaCGHwasbetteratdetectinglargerCNVs.Also,byNGS,wedetectednovelstructuralvariations,novelSNVsandsmallinsertion/deletionvariants.OurresultsshowthatNGS,inadditiontodetectingmutationsandothergeneticaberrations,canbeusedtostudyCNVs.

【 授权许可】

Unknown   

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