Redefining the high-grade B cell lymphoma with double/triple rearrangements of MYC and BCL2/BCL6 genes. Learning from a case report

eJHaem

article

Socorro María Rodríguez-Pinilla¹  Rocío Nieves Salgado²  Cristina Chamizo¹  Carlos Santonja¹  Peter Stewart³  Nerea Carvajal¹  Neil McCafferty³  Rebeca Manso¹  Daniel Morillo⁴  Miguel Ángel Piris¹  David González de Castro³ 

[1] Pathology Department, Hospital Universitario Fundación Jiménez Díaz;Cytogenetic Department, Hospital Universitario Fundación Jiménez Díaz;Patrick G Johnston Centre for Cancer Research, Queen's University Belfast;Haematology Department, Hospital Universitario Fundación Jiménez Díaz

关键词: B-cell lymphomas with double or triple hits;    fluorescence in situ hybridization;    follicular lymphoma;    MYC;    PVT1;   

DOI  :  10.1002/jha2.310

来源: Wiley

【 摘 要 】

We report a patient initially diagnosed with a triple hit high-grade B cell lymphoma (HGBL-TH), in which further morphologic, immunohistochemical, and next-generation sequencing studies of subsequent specimens disclosed it to be a germinal center diffuse large B cell lymphoma (GC-DLBCL) with BCL2/BCL6 gene translocations, PVT1 -deletion, and gain of MYC genes evolving from a previous follicular lymphoma. However, fluorescence in situ hybridization (FISH) studies with the break-apart probe for MYC gene showed a fusion and two separated signals (red and green, respectively) leading to the interpretation of MYC gene translocation and a false diagnosis of a TH-lymphoma, according to the recent WHO classification. Nevertheless, PVT1 deletion plus MYC gain/amplification has been described as a cause of the double-hi transcription profile. These data highlight the need for new criteria to identify these highly aggressive lymphomas.

【 授权许可】

Unknown