A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile

Pediatric nodal marginal zone lymphoma (PNMZL) is an uncommon B-cell neoplasm affecting mainly male children and young adults. This indolent lymphoma has distinct characteristics that differ from those of conventional nodal marginal zone lymphoma (NMZL). Clinically, it exhibits overlapping features...

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Autores: Salmerón Villalobos, Julia, Egan, Caoimhe, Borgmann, Vanessa, Müller, Inga, González Farré, Blanca, Ramis Zaldívar, Joan Enric, Nann, Dominik, Balagué Ponz, Olga, López-Guerra, Mónica, Colomer Pujol, Dolors, Oschlies, Ilske, Klapper, Wolfram, Glaser, Selina, Ko, Young Hyeh, Bonzheim, Irina, Siebert, Reiner, Fend, Falko, Pittaluga, Stefania, Campo Güerri, Elias, Salaverria Frigola, Itziar, Jaffe, Elaine S., Quintanilla Martinez, Leticia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/199446
Acceso en línea:https://hdl.handle.net/2445/199446
Access Level:acceso abierto
Palabra clave:Cèl·lules B
Limfomes
Biologia molecular
B cells
Lymphomas
Molecular biology
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spelling A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profileSalmerón Villalobos, JuliaEgan, CaoimheBorgmann, VanessaMüller, IngaGonzález Farré, BlancaRamis Zaldívar, Joan EnricNann, DominikBalagué Ponz, OlgaLópez-Guerra, MónicaColomer Pujol, DolorsOschlies, IlskeKlapper, WolframGlaser, SelinaKo, Young HyehBonzheim, IrinaSiebert, ReinerFend, FalkoPittaluga, StefaniaCampo Güerri, EliasSalaverria Frigola, ItziarJaffe, Elaine S.Quintanilla Martinez, LeticiaCèl·lules BLimfomesBiologia molecularB cellsLymphomasMolecular biologyPediatric nodal marginal zone lymphoma (PNMZL) is an uncommon B-cell neoplasm affecting mainly male children and young adults. This indolent lymphoma has distinct characteristics that differ from those of conventional nodal marginal zone lymphoma (NMZL). Clinically, it exhibits overlapping features with pediatric-type follicular lymphoma (PTFL). To explore the differences between PNMZL and adult NMZL and its relationship to PTFL, a series of 45 PNMZL cases were characterized morphologically and genetically by using an integrated approach; this approach included whole-exome sequencing in a subset of cases, targeted next-generation sequencing, and copy number and DNA methylation arrays. Fourteen cases (31%) were diagnosed as PNMZL, and 31 cases (69%) showed overlapping histologic features between PNMZL and PTFL, including a minor component of residual serpiginous germinal centers reminiscent of PTFL and a dominant interfollicular B-cell component characteristic of PNMZL. All cases displayed low genomic complexity (1.2 alterations per case) with recurrent 1p36/TNFRSF14 copy number-neutral loss of heterozygosity alterations and copy number loss (11%). Similar to PTFL, the most frequently mutated genes in PNMZL were MAP2K1 (42%), TNFRSF14 (36%), and IRF8 (34%). DNA methylation analysis revealed no major differences between PTFL and PNMZL. Genetic alterations typically seen in conventional NMZL were absent in PNMZL. In summary, overlapping clinical, morphologic, and molecular findings (including low genetic complexity; recurrent alterations in MAP2K1, TNFRSF14, and IRF8; and similar methylation profiles) indicate that PNMZL and PTFL are likely part of a single disease with variation in the histologic spectrum. The term "pediatric-type follicular lymphoma with and without marginal zone differentiation" is suggested.Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.American Society of Hematology2022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/199446Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1182/bloodadvances.2022007322Blood Advances, 2022, vol. 6, num. 16, p. 4661-4674https://doi.org/10.1182/bloodadvances.2022007322cc by-nc-nd (c) Salmerón Villalobos, Julia et al, 2022http://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1994462026-05-27T06:46:51Z
dc.title.none.fl_str_mv A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
title A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
spellingShingle A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
Salmerón Villalobos, Julia
Cèl·lules B
Limfomes
Biologia molecular
B cells
Lymphomas
Molecular biology
title_short A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
title_full A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
title_fullStr A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
title_full_unstemmed A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
title_sort A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
dc.creator.none.fl_str_mv Salmerón Villalobos, Julia
Egan, Caoimhe
Borgmann, Vanessa
Müller, Inga
González Farré, Blanca
Ramis Zaldívar, Joan Enric
Nann, Dominik
Balagué Ponz, Olga
López-Guerra, Mónica
Colomer Pujol, Dolors
Oschlies, Ilske
Klapper, Wolfram
Glaser, Selina
Ko, Young Hyeh
Bonzheim, Irina
Siebert, Reiner
Fend, Falko
Pittaluga, Stefania
Campo Güerri, Elias
Salaverria Frigola, Itziar
Jaffe, Elaine S.
Quintanilla Martinez, Leticia
author Salmerón Villalobos, Julia
author_facet Salmerón Villalobos, Julia
Egan, Caoimhe
Borgmann, Vanessa
Müller, Inga
González Farré, Blanca
Ramis Zaldívar, Joan Enric
Nann, Dominik
Balagué Ponz, Olga
López-Guerra, Mónica
Colomer Pujol, Dolors
Oschlies, Ilske
Klapper, Wolfram
Glaser, Selina
Ko, Young Hyeh
Bonzheim, Irina
Siebert, Reiner
Fend, Falko
Pittaluga, Stefania
Campo Güerri, Elias
Salaverria Frigola, Itziar
Jaffe, Elaine S.
Quintanilla Martinez, Leticia
author_role author
author2 Egan, Caoimhe
Borgmann, Vanessa
Müller, Inga
González Farré, Blanca
Ramis Zaldívar, Joan Enric
Nann, Dominik
Balagué Ponz, Olga
López-Guerra, Mónica
Colomer Pujol, Dolors
Oschlies, Ilske
Klapper, Wolfram
Glaser, Selina
Ko, Young Hyeh
Bonzheim, Irina
Siebert, Reiner
Fend, Falko
Pittaluga, Stefania
Campo Güerri, Elias
Salaverria Frigola, Itziar
Jaffe, Elaine S.
Quintanilla Martinez, Leticia
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Cèl·lules B
Limfomes
Biologia molecular
B cells
Lymphomas
Molecular biology
topic Cèl·lules B
Limfomes
Biologia molecular
B cells
Lymphomas
Molecular biology
description Pediatric nodal marginal zone lymphoma (PNMZL) is an uncommon B-cell neoplasm affecting mainly male children and young adults. This indolent lymphoma has distinct characteristics that differ from those of conventional nodal marginal zone lymphoma (NMZL). Clinically, it exhibits overlapping features with pediatric-type follicular lymphoma (PTFL). To explore the differences between PNMZL and adult NMZL and its relationship to PTFL, a series of 45 PNMZL cases were characterized morphologically and genetically by using an integrated approach; this approach included whole-exome sequencing in a subset of cases, targeted next-generation sequencing, and copy number and DNA methylation arrays. Fourteen cases (31%) were diagnosed as PNMZL, and 31 cases (69%) showed overlapping histologic features between PNMZL and PTFL, including a minor component of residual serpiginous germinal centers reminiscent of PTFL and a dominant interfollicular B-cell component characteristic of PNMZL. All cases displayed low genomic complexity (1.2 alterations per case) with recurrent 1p36/TNFRSF14 copy number-neutral loss of heterozygosity alterations and copy number loss (11%). Similar to PTFL, the most frequently mutated genes in PNMZL were MAP2K1 (42%), TNFRSF14 (36%), and IRF8 (34%). DNA methylation analysis revealed no major differences between PTFL and PNMZL. Genetic alterations typically seen in conventional NMZL were absent in PNMZL. In summary, overlapping clinical, morphologic, and molecular findings (including low genetic complexity; recurrent alterations in MAP2K1, TNFRSF14, and IRF8; and similar methylation profiles) indicate that PNMZL and PTFL are likely part of a single disease with variation in the histologic spectrum. The term "pediatric-type follicular lymphoma with and without marginal zone differentiation" is suggested.Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.
publishDate 2022
dc.date.none.fl_str_mv 2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/199446
url https://hdl.handle.net/2445/199446
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1182/bloodadvances.2022007322
Blood Advances, 2022, vol. 6, num. 16, p. 4661-4674
https://doi.org/10.1182/bloodadvances.2022007322
dc.rights.none.fl_str_mv cc by-nc-nd (c) Salmerón Villalobos, Julia et al, 2022
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-nc-nd (c) Salmerón Villalobos, Julia et al, 2022
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv American Society of Hematology
publisher.none.fl_str_mv American Society of Hematology
dc.source.none.fl_str_mv Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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