Distal chromosome 1q aberrations and initial response to ibrutinib in central nervous system relapsed mantle cell lymphoma

Marcus Høy Hansen; Karen Juul-Jensen; Oriane Cédile; Stephanie Kavan; Michael Boe Møller; Jacob Haaber; Charlotte Guldborg Nyvold

doi:10.1016/j.lrr.2021.100255

Distal chromosome 1q aberrations and initial response to ibrutinib in central nervous system relapsed mantle cell lymphoma

Marcus Høy Hansen^*, Karen Juul-Jensen, Oriane Cédile, Stephanie Kavan, Michael Boe Møller, Jacob Haaber, Charlotte Guldborg Nyvold

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Abstract

Relapse involving the central nervous system (CNS) is an infrequent event in the progression of mantle cell lymphoma (MCL) with an incidence of approximately four percent. We report four cases of MCL with CNS relapse. In three of the four patients a large chromosomal copy-number alteration (CNA) of 1q was demonstrated together with TP53 mutation/deletion. These patients experienced brief response to ibrutinib, whereas a fourth patient harboring mutated ATM demonstrated a long-term effect to ibrutinib and no CNA. Although it is unclear whether chromosome 1q CNA contribute to specific phenotypes these reports may be of value as such lesions are uncommon features of MCL.

Originalsprog	Engelsk
Artikelnummer	100255
Tidsskrift	Leukemia Research Reports
Vol/bind	15
Antal sider	5
ISSN	2213-0489
DOI	https://doi.org/10.1016/j.lrr.2021.100255
Status	Udgivet - jan. 2021

Bibliografisk note

Funding Information:
We thank professor Mads Thomassen, Department of Clinical Genetics, Odense University Hospital, Denmark, for the assistance in relation to Next-generation sequencing. Also, we are grateful for the support provided by the foundations Grosserer Brogaard og Hustrus Mindefond, Dagmar Marshalls Fond, A. J. Andersen og hustrus Fond, and Eva og Henry Fr?nkels Mindefond.

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10.1016/j.lrr.2021.100255Licens: CC BY

Open Access VersionForlagets udgivne version, 2,98 MBLicens: CC BY

1 Ph.d.-afhandling

DEVELOPMENT OF CLINICALLY APPLICABLE NEXT-GENERATION BIOINFORMATICS: Driven by the Genomic Heterogeneity of Mantle Cell Lymphoma for Evidence-based Diagnostics, Disease Tracking, and Follow-up
Hansen, M. H., 28. okt. 2021, Syddansk Universitet. Det Sundhedsvidenskabelige Fakultet. 126 s.
Publikation: Afhandling › Ph.d.-afhandling

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title = "Distal chromosome 1q aberrations and initial response to ibrutinib in central nervous system relapsed mantle cell lymphoma",

abstract = "Relapse involving the central nervous system (CNS) is an infrequent event in the progression of mantle cell lymphoma (MCL) with an incidence of approximately four percent. We report four cases of MCL with CNS relapse. In three of the four patients a large chromosomal copy-number alteration (CNA) of 1q was demonstrated together with TP53 mutation/deletion. These patients experienced brief response to ibrutinib, whereas a fourth patient harboring mutated ATM demonstrated a long-term effect to ibrutinib and no CNA. Although it is unclear whether chromosome 1q CNA contribute to specific phenotypes these reports may be of value as such lesions are uncommon features of MCL.",

keywords = "Central nervous system relapse, Chromosome 1 aberration, Copy number alteration, Ibrutinib response, Mantle cell lymphoma",

author = "Hansen, {Marcus H{\o}y} and Karen Juul-Jensen and Oriane C{\'e}dile and Stephanie Kavan and M{\o}ller, {Michael Boe} and Jacob Haaber and Nyvold, {Charlotte Guldborg}",

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year = "2021",

month = jan,

doi = "10.1016/j.lrr.2021.100255",

language = "English",

volume = "15",

journal = "Leukemia Research Reports",

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T1 - Distal chromosome 1q aberrations and initial response to ibrutinib in central nervous system relapsed mantle cell lymphoma

AU - Hansen, Marcus Høy

AU - Juul-Jensen, Karen

AU - Cédile, Oriane

AU - Kavan, Stephanie

AU - Møller, Michael Boe

AU - Haaber, Jacob

AU - Nyvold, Charlotte Guldborg

PY - 2021/1

Y1 - 2021/1

N2 - Relapse involving the central nervous system (CNS) is an infrequent event in the progression of mantle cell lymphoma (MCL) with an incidence of approximately four percent. We report four cases of MCL with CNS relapse. In three of the four patients a large chromosomal copy-number alteration (CNA) of 1q was demonstrated together with TP53 mutation/deletion. These patients experienced brief response to ibrutinib, whereas a fourth patient harboring mutated ATM demonstrated a long-term effect to ibrutinib and no CNA. Although it is unclear whether chromosome 1q CNA contribute to specific phenotypes these reports may be of value as such lesions are uncommon features of MCL.

AB - Relapse involving the central nervous system (CNS) is an infrequent event in the progression of mantle cell lymphoma (MCL) with an incidence of approximately four percent. We report four cases of MCL with CNS relapse. In three of the four patients a large chromosomal copy-number alteration (CNA) of 1q was demonstrated together with TP53 mutation/deletion. These patients experienced brief response to ibrutinib, whereas a fourth patient harboring mutated ATM demonstrated a long-term effect to ibrutinib and no CNA. Although it is unclear whether chromosome 1q CNA contribute to specific phenotypes these reports may be of value as such lesions are uncommon features of MCL.

KW - Central nervous system relapse

KW - Chromosome 1 aberration

KW - Copy number alteration

KW - Ibrutinib response

KW - Mantle cell lymphoma

U2 - 10.1016/j.lrr.2021.100255

DO - 10.1016/j.lrr.2021.100255

M3 - Journal article

C2 - 34150491

AN - SCOPUS:85107309950

SN - 2213-0489

VL - 15

JO - Leukemia Research Reports

JF - Leukemia Research Reports

M1 - 100255

ER -

Distal chromosome 1q aberrations and initial response to ibrutinib in central nervous system relapsed mantle cell lymphoma

Abstract

Bibliografisk note

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DEVELOPMENT OF CLINICALLY APPLICABLE NEXT-GENERATION BIOINFORMATICS: Driven by the Genomic Heterogeneity of Mantle Cell Lymphoma for Evidence-based Diagnostics, Disease Tracking, and Follow-up

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