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Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets

Rodrigues, Joana M. LU ; Porwit, Anna LU ; Hassan, May LU ; Ek, Sara LU and Jerkeman, Mats LU (2021) In Leukemia and Lymphoma 62(11). p.2637-2647
Abstract

Mantle cell lymphoma (MCL) is an aggressive B-cell neoplasm that follows a heterogeneous clinical course. Recurrent mutations have been described, but their applicability in the clinical setting is currently limited. The main reasons are challenges in the sequencing of DNA retrieved from formalin-fixed tissue commonly used for tissue collection in clinical biobanks. In this study, we sequenced 77 samples from a population-based de novo MCL cohort to investigate the utility of targeted sequencing in guiding personalized treatment approaches. Tumors were genetically variable, and a similar genetic landscape as previous studies using non-formalin fixed samples was identified, with recurrent mutations including ATM, KMT2D, and TP53. Novel... (More)

Mantle cell lymphoma (MCL) is an aggressive B-cell neoplasm that follows a heterogeneous clinical course. Recurrent mutations have been described, but their applicability in the clinical setting is currently limited. The main reasons are challenges in the sequencing of DNA retrieved from formalin-fixed tissue commonly used for tissue collection in clinical biobanks. In this study, we sequenced 77 samples from a population-based de novo MCL cohort to investigate the utility of targeted sequencing in guiding personalized treatment approaches. Tumors were genetically variable, and a similar genetic landscape as previous studies using non-formalin fixed samples was identified, with recurrent mutations including ATM, KMT2D, and TP53. Novel alterations that can be considered actionable and/or indicative of treatment response were also identified. Our approach shows the potential benefits of using target sequencing of formalin fixed samples to facilitate treatment selection and individualized clinical decisions in MCL.

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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
actionable mutations, FFPE, genetic landscape, Mantle cell lymphoma, target sequencing
in
Leukemia and Lymphoma
volume
62
issue
11
pages
11 pages
publisher
Taylor & Francis
external identifiers
  • scopus:85107475056
  • pmid:34080947
ISSN
1042-8194
DOI
10.1080/10428194.2021.1933480
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2021 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
id
3f0b7e11-cf6c-4f92-b76d-3b66f182fec8
date added to LUP
2022-01-27 11:36:20
date last changed
2024-06-16 00:38:02
@article{3f0b7e11-cf6c-4f92-b76d-3b66f182fec8,
  abstract     = {{<p>Mantle cell lymphoma (MCL) is an aggressive B-cell neoplasm that follows a heterogeneous clinical course. Recurrent mutations have been described, but their applicability in the clinical setting is currently limited. The main reasons are challenges in the sequencing of DNA retrieved from formalin-fixed tissue commonly used for tissue collection in clinical biobanks. In this study, we sequenced 77 samples from a population-based de novo MCL cohort to investigate the utility of targeted sequencing in guiding personalized treatment approaches. Tumors were genetically variable, and a similar genetic landscape as previous studies using non-formalin fixed samples was identified, with recurrent mutations including ATM, KMT2D, and TP53. Novel alterations that can be considered actionable and/or indicative of treatment response were also identified. Our approach shows the potential benefits of using target sequencing of formalin fixed samples to facilitate treatment selection and individualized clinical decisions in MCL.</p>}},
  author       = {{Rodrigues, Joana M. and Porwit, Anna and Hassan, May and Ek, Sara and Jerkeman, Mats}},
  issn         = {{1042-8194}},
  keywords     = {{actionable mutations; FFPE; genetic landscape; Mantle cell lymphoma; target sequencing}},
  language     = {{eng}},
  number       = {{11}},
  pages        = {{2637--2647}},
  publisher    = {{Taylor & Francis}},
  series       = {{Leukemia and Lymphoma}},
  title        = {{Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets}},
  url          = {{http://dx.doi.org/10.1080/10428194.2021.1933480}},
  doi          = {{10.1080/10428194.2021.1933480}},
  volume       = {{62}},
  year         = {{2021}},
}