title: Diffuse large B-cell lymphoma with TEL/ETV6 translocation.
abstract: Cytogenetic abnormalities of chromosome 12p involving the TEL/ETV6 gene are observed in a variety of hematopoietic neoplasms including acute leukemias, myelodysplastic syndromes, and myeloproliferative disorders. Karyotypic aberrations, including rearrangements, deletions, and amplifications of chromosome 12p, have been documented in B-cell non-Hodgkin lymphoma; however, rearrangements targeting TEL have rarely been reported. Here we describe a diffuse large B-cell lymphoma that had a complex karyotype including t(9;12)(q22;p13), which was confirmed by fluorescence in situ hybridization to represent rearrangement of TEL. Additional cytogenetic abnormalities included t(3;14)(q27;q32) involving the variant, alternative breakpoint region of the BCL6 gene and del(6)(q13q23), resulting in the loss of 1 allele of BLIMP1. This case reiterates the importance of correlating morphologic and phenotypic findings with the results of cytogenetic analysis to avoid errors in diagnosing hematologic neoplasms and highlights the rare association of B-cell non-Hodgkin lymphoma with aberrations of TEL.
authors.affiliation: Department of Pathology, Columbia University, New York, NY 10032, USA.
authors.forename: Deborah W
authors.initials: DW
authors.lastname: Sevilla
authors.forename: Subhadra V
authors.initials: SV
authors.lastname: Nandula
authors.forename: Adriana I
authors.initials: AI
authors.lastname: Colovai
authors.forename: Suzy
authors.initials: S
authors.lastname: Alexander
authors.forename: Vundavalli V
authors.initials: VV
authors.lastname: Murty
authors.forename: Bachir
authors.initials: B
authors.lastname: Alobeid
authors.forename: Govind
authors.initials: G
authors.lastname: Bhagat
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D005434:Flow Cytometry; D015322:Gene Rearrangement, B-Lymphocyte; D006689:Hodgkin Disease / Q000150:complications / Q000628:therapy; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D016403:Lymphoma, Large B-Cell, Diffuse / Q000150:complications / Q000235:genetics* / Q000473:pathology; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein