Cargando…
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1784823862789144576 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9631662 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | American Society of Hematology |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT salmeronvillalobosjulia aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT egancaoimhe aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT borgmannvanessa aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT mulleringa aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT gonzalezfarreblanca aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT ramiszaldivarjoanenric aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT nanndominik aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT balagueolga aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT lopezguerramonica aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT colomerdolors aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT oschliesilske aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT klapperwolfram aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT glaserselina aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT koyounghyeh aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT bonzheimirina aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT siebertreiner aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT fendfalko aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT pittalugastefania aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT campoelias aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT salaverriaitziar aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT jaffeelaines aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT quintanillamartinezleticia aunifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT salmeronvillalobosjulia unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT egancaoimhe unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT borgmannvanessa unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT mulleringa unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT gonzalezfarreblanca unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT ramiszaldivarjoanenric unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT nanndominik unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT balagueolga unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT lopezguerramonica unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT colomerdolors unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT oschliesilske unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT klapperwolfram unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT glaserselina unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT koyounghyeh unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT bonzheimirina unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT siebertreiner unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT fendfalko unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT pittalugastefania unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT campoelias unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT salaverriaitziar unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT jaffeelaines unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile AT quintanillamartinezleticia unifyinghypothesisforpnmzlandptflmorphologicalvariantswithacommonmolecularprofile |