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

Socorro María Rodríguez‐Pinilla; Rocío Nieves Salgado; Cristina Chamizo; Carlos Santonja; Peter Stewart; Nerea Carvajal; Neil McCafferty; Rebeca Manso; Daniel Morillo; Miguel Ángel Piris; David González de Castro

doi:10.1002/jha2.310

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

Socorro María Rodríguez‐Pinilla^*, Rocío Nieves Salgado, Cristina Chamizo, Carlos Santonja, Peter Stewart, Nerea Carvajal, Neil McCafferty, Rebeca Manso, Daniel Morillo, Miguel Ángel Piris, David González de Castro

^*Corresponding author for this work

Patrick G Johnston Centre for Cancer Research

Research output: Contribution to journal › Article › peer-review

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Abstract

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.

Original language	English
Journal	eJHaem
Early online date	09 Nov 2021
DOIs	https://doi.org/10.1002/jha2.310
Publication status	Early online date - 09 Nov 2021

Keywords

SHORT REPORT
SHORT REPORTS
B‐cell lymphomas with double or triple hits
fluorescence in situ hybridization
follicular lymphoma
MYC
PVT1

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10.1002/jha2.310Licence: CC BY

Redefining the high-grade B cell lymphoma with double/triple rearrangements of MYC and BCL2/BCL6 genes. Learning from a case report
Copyright 2021 the authors. This is an open access article published under a Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium, provided the author and source are cited.
Final published version, 2.76 MBLicence: CC BY

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Rodríguez‐Pinilla, S. M., Salgado, R. N., Chamizo, C., Santonja, C., Stewart, P., Carvajal, N., McCafferty, N., Manso, R., Morillo, D., Piris, M. Á., & González de Castro, D. (2021). Redefining the high‐grade B cell lymphoma with double/triple rearrangements of MYC and BCL2/BCL6 genes. Learning from a case report. eJHaem. Advance online publication. https://doi.org/10.1002/jha2.310

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

abstract = "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.",

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AU - Rodríguez‐Pinilla, Socorro María

AU - Salgado, Rocío Nieves

AU - Chamizo, Cristina

AU - Santonja, Carlos

AU - Stewart, Peter

AU - Carvajal, Nerea

AU - McCafferty, Neil

AU - Manso, Rebeca

AU - Morillo, Daniel

AU - Piris, Miguel Ángel

AU - González de Castro, David

PY - 2021/11/9

Y1 - 2021/11/9

N2 - 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.

AB - 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.

KW - SHORT REPORT

KW - SHORT REPORTS

KW - B‐cell lymphomas with double or triple hits

KW - fluorescence in situ hybridization

KW - follicular lymphoma

KW - MYC

KW - PVT1

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DO - 10.1002/jha2.310

M3 - Article

SN - 2688-6146

JO - eJHaem

JF - eJHaem

ER -

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

Abstract

Keywords

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