Cryptic NUP214-ABL1 fusion with complex karyotype, episomes and intra-tumor genetic heterogeneity in a T-cell lymphoblastic lymphoma

作     者：Moneeb A.K Othman Beate Grygalewicz Agnieszka Kołkowska-Lesniak Joana B.Melo Isabel M.Carreira Thomas Liehr 

作者机构：Jena University HospitalFriedrich Schiller UniversityInstitute of Human GeneticsJena D-07740Germany Cytogenetic LaboratoryMaria Sklodowska-Curie Memorial Cancer Centre and InstituteWarsaw 02-781Poland Department of Lymphatic DiseasesInstitute of Hematology and TransfusionWarsaw 02-776Poland Laboratory of Cytogenetics and GenomicsFaculty of MedicineUniversity of CoimbraCoimbra 3000-354Portugal Centro de Investigac̃ao em Meio AmbienteGenetica e Oncobiologia(CIMAGO)Coimbra 3001-301Portugal 

出 版 物：《Journal of Cancer Metastasis and Treatment》 (癌症转移与治疗（英文版）)

年 卷 期：2018年第4卷第1期

页      面：597-605页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：T-cell lymphoblastic lymphoma NUP214-ABL1 fusion complex karyotype episomes intra-tumor genetic heterogeneity molecular cytogenetics array comparative genomic hybridization 

摘      要：T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular ***,complex karyotypes were already related to this group of malignancy and associated with poor ***,we describe a 17-year-old female being diagnosed with T-LBL and a normal karyotype after standard G-banding with trypsin-Giemsa(GTG)-***,further analyses including high-resolution molecular approaches,array-comparative genomic hybridization(aCGH),multiplex ligation-dependent probe amplification,fluorescence in situ hybridization and multicolor chromosome banding revealed a cryptic complex karyotype,NUP214-ABL1 gene fusion,episomes and intra-tumor genetic *** addition,homozygous loss of CDKN2A,as well as amplification of oncogene TLX1(HOX11)were ***,NUP214-ABL1 fusion gene replicated autonomously in this case as ***,highly amplification of NUP214-ABL1 fusion gene defines possibly a new subgroup of T-LBL patients which accordingly could benefit from treatment with tyrosine kinase *** episomes are missed in standard karyotyping aCGH should be performed routinely in T-LBL to possibly detect more of such cases.