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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 principales: Salmeron-Villalobos, Julia, Egan, Caoimhe, Borgmann, Vanessa, Müller, Inga, Gonzalez-Farre, Blanca, Ramis-Zaldivar, Joan Enric, Nann, Dominik, Balagué, Olga, López-Guerra, Mónica, Colomer, Dolors, Oschlies, Ilske, Klapper, Wolfram, Glaser, Selina, Ko, Young Hyeh, Bonzheim, Irina, Siebert, Reiner, Fend, Falko, Pittaluga, Stefania, Campo, Elias, Salaverria, Itziar, Jaffe, Elaine S., Quintanilla-Martinez, Leticia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631662/
https://www.ncbi.nlm.nih.gov/pubmed/35609565
http://dx.doi.org/10.1182/bloodadvances.2022007322
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author Salmeron-Villalobos, Julia
Egan, Caoimhe
Borgmann, Vanessa
Müller, Inga
Gonzalez-Farre, Blanca
Ramis-Zaldivar, Joan Enric
Nann, Dominik
Balagué, Olga
López-Guerra, Mónica
Colomer, Dolors
Oschlies, Ilske
Klapper, Wolfram
Glaser, Selina
Ko, Young Hyeh
Bonzheim, Irina
Siebert, Reiner
Fend, Falko
Pittaluga, Stefania
Campo, Elias
Salaverria, Itziar
Jaffe, Elaine S.
Quintanilla-Martinez, Leticia
author_facet Salmeron-Villalobos, Julia
Egan, Caoimhe
Borgmann, Vanessa
Müller, Inga
Gonzalez-Farre, Blanca
Ramis-Zaldivar, Joan Enric
Nann, Dominik
Balagué, Olga
López-Guerra, Mónica
Colomer, Dolors
Oschlies, Ilske
Klapper, Wolfram
Glaser, Selina
Ko, Young Hyeh
Bonzheim, Irina
Siebert, Reiner
Fend, Falko
Pittaluga, Stefania
Campo, Elias
Salaverria, Itziar
Jaffe, Elaine S.
Quintanilla-Martinez, Leticia
author_sort Salmeron-Villalobos, Julia
collection PubMed
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.
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spelling pubmed-96316622022-11-04 A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile Salmeron-Villalobos, Julia Egan, Caoimhe Borgmann, Vanessa Müller, Inga Gonzalez-Farre, Blanca Ramis-Zaldivar, Joan Enric Nann, Dominik Balagué, Olga López-Guerra, Mónica Colomer, Dolors Oschlies, Ilske Klapper, Wolfram Glaser, Selina Ko, Young Hyeh Bonzheim, Irina Siebert, Reiner Fend, Falko Pittaluga, Stefania Campo, Elias Salaverria, Itziar Jaffe, Elaine S. Quintanilla-Martinez, Leticia Blood Adv Lymphoid Neoplasia 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. American Society of Hematology 2022-08-12 /pmc/articles/PMC9631662/ /pubmed/35609565 http://dx.doi.org/10.1182/bloodadvances.2022007322 Text en 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.
spellingShingle Lymphoid Neoplasia
Salmeron-Villalobos, Julia
Egan, Caoimhe
Borgmann, Vanessa
Müller, Inga
Gonzalez-Farre, Blanca
Ramis-Zaldivar, Joan Enric
Nann, Dominik
Balagué, Olga
López-Guerra, Mónica
Colomer, Dolors
Oschlies, Ilske
Klapper, Wolfram
Glaser, Selina
Ko, Young Hyeh
Bonzheim, Irina
Siebert, Reiner
Fend, Falko
Pittaluga, Stefania
Campo, Elias
Salaverria, Itziar
Jaffe, Elaine S.
Quintanilla-Martinez, Leticia
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
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_short A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
title_sort unifying hypothesis for pnmzl and ptfl: morphological variants with a common molecular profile
topic Lymphoid Neoplasia
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631662/
https://www.ncbi.nlm.nih.gov/pubmed/35609565
http://dx.doi.org/10.1182/bloodadvances.2022007322
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