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Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges

Refractory celiac disease (RCD) and enteropathy-associated T-cell lymphoma (EATL) are rare, yet severe complications of celiac disease (CD). Over the last decades, several studies have addressed the biology and clinical-pathological features of such conditions, highlighting unique disease patterns a...

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Autores principales: Scarmozzino, Federico, Pizzi, Marco, Pelizzaro, Filippo, Angerilli, Valentina, Dei Tos, Angelo Paolo, Piazza, Francesco, Savarino, Edoardo Vincenzo, Zingone, Fabiana, Fassan, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10662059/
https://www.ncbi.nlm.nih.gov/pubmed/38023263
http://dx.doi.org/10.3389/fonc.2023.1273305
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author Scarmozzino, Federico
Pizzi, Marco
Pelizzaro, Filippo
Angerilli, Valentina
Dei Tos, Angelo Paolo
Piazza, Francesco
Savarino, Edoardo Vincenzo
Zingone, Fabiana
Fassan, Matteo
author_facet Scarmozzino, Federico
Pizzi, Marco
Pelizzaro, Filippo
Angerilli, Valentina
Dei Tos, Angelo Paolo
Piazza, Francesco
Savarino, Edoardo Vincenzo
Zingone, Fabiana
Fassan, Matteo
author_sort Scarmozzino, Federico
collection PubMed
description Refractory celiac disease (RCD) and enteropathy-associated T-cell lymphoma (EATL) are rare, yet severe complications of celiac disease (CD). Over the last decades, several studies have addressed the biology and clinical-pathological features of such conditions, highlighting unique disease patterns and recurrent genetic events. Current classification proposals identify two forms of RCD, namely: (i) type 1 RCD (RCD-I), characterized by phenotypically normal intra-epithelial lymphocytes (IELs); and (ii) type 2 RCD (RCD-II), featuring phenotypically aberrant IELs. While RCD-I likely represents a gluten-independent dysimmune reaction against small bowel epithelial cells, RCD-II is better considered an in situ aggressive T-cell lymphoma, with high rates of progression to overt EATL. The diagnosis of RCD and EATL is often challenging, due to misleading clinical-pathological features and to significant overlap with several CD-unrelated gastro-intestinal disorders. Similarly, the treatment of RCD and EATL is an unmet clinical need for both gastroenterologists and hematologists. Moving from such premises, this review aims to provide a comprehensive view of RCD and EATL, specifically considering their pathogenesis and the many still open issues concerning their diagnosis and clinical management.
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spelling pubmed-106620592023-01-01 Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges Scarmozzino, Federico Pizzi, Marco Pelizzaro, Filippo Angerilli, Valentina Dei Tos, Angelo Paolo Piazza, Francesco Savarino, Edoardo Vincenzo Zingone, Fabiana Fassan, Matteo Front Oncol Oncology Refractory celiac disease (RCD) and enteropathy-associated T-cell lymphoma (EATL) are rare, yet severe complications of celiac disease (CD). Over the last decades, several studies have addressed the biology and clinical-pathological features of such conditions, highlighting unique disease patterns and recurrent genetic events. Current classification proposals identify two forms of RCD, namely: (i) type 1 RCD (RCD-I), characterized by phenotypically normal intra-epithelial lymphocytes (IELs); and (ii) type 2 RCD (RCD-II), featuring phenotypically aberrant IELs. While RCD-I likely represents a gluten-independent dysimmune reaction against small bowel epithelial cells, RCD-II is better considered an in situ aggressive T-cell lymphoma, with high rates of progression to overt EATL. The diagnosis of RCD and EATL is often challenging, due to misleading clinical-pathological features and to significant overlap with several CD-unrelated gastro-intestinal disorders. Similarly, the treatment of RCD and EATL is an unmet clinical need for both gastroenterologists and hematologists. Moving from such premises, this review aims to provide a comprehensive view of RCD and EATL, specifically considering their pathogenesis and the many still open issues concerning their diagnosis and clinical management. Frontiers Media S.A. 2023-11-07 /pmc/articles/PMC10662059/ /pubmed/38023263 http://dx.doi.org/10.3389/fonc.2023.1273305 Text en Copyright © 2023 Scarmozzino, Pizzi, Pelizzaro, Angerilli, Dei Tos, Piazza, Savarino, Zingone and Fassan https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Scarmozzino, Federico
Pizzi, Marco
Pelizzaro, Filippo
Angerilli, Valentina
Dei Tos, Angelo Paolo
Piazza, Francesco
Savarino, Edoardo Vincenzo
Zingone, Fabiana
Fassan, Matteo
Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
title Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
title_full Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
title_fullStr Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
title_full_unstemmed Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
title_short Refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
title_sort refractory celiac disease and its mimickers: a review on pathogenesis, clinical-pathological features and therapeutic challenges
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10662059/
https://www.ncbi.nlm.nih.gov/pubmed/38023263
http://dx.doi.org/10.3389/fonc.2023.1273305
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