S Machan, M Rodríguez, R Manso, J Borregón, C Chamizo, R Alonso-Alonso, J L Rodríguez-Peralto, M Á Torres Nieto, C Monteagudo, E García Toro, L Cerroni, C García, T Estrach, A García Herrera, B Ferrer, V García-Patos, N Segues, F J Díaz de la Pinta, J L Afonso-Martin, Y Peñate, M Á Limeres-Gonzalez, M Á González-Núñez, C González-Cruz, E García Fernández, L Cereceda, P Minguez, L de la Fuente, L Requena, S M Rodríguez-Pinilla
{"title":"皮下泛发性T细胞淋巴瘤和狼疮泛发性T细胞淋巴瘤的不同突变谱：新增病例系列。","authors":"S Machan, M Rodríguez, R Manso, J Borregón, C Chamizo, R Alonso-Alonso, J L Rodríguez-Peralto, M Á Torres Nieto, C Monteagudo, E García Toro, L Cerroni, C García, T Estrach, A García Herrera, B Ferrer, V García-Patos, N Segues, F J Díaz de la Pinta, J L Afonso-Martin, Y Peñate, M Á Limeres-Gonzalez, M Á González-Núñez, C González-Cruz, E García Fernández, L Cereceda, P Minguez, L de la Fuente, L Requena, S M Rodríguez-Pinilla","doi":"10.1016/j.ad.2024.11.006","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and objective: </strong>subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed.</p><p><strong>Objectives: </strong>the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP.</p><p><strong>Materials and methods: </strong>we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained.</p><p><strong>Results: </strong>the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes.</p><p><strong>Conclusions: </strong>the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.</p>","PeriodicalId":7173,"journal":{"name":"Actas dermo-sifiliograficas","volume":" ","pages":""},"PeriodicalIF":3.8000,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.\",\"authors\":\"S Machan, M Rodríguez, R Manso, J Borregón, C Chamizo, R Alonso-Alonso, J L Rodríguez-Peralto, M Á Torres Nieto, C Monteagudo, E García Toro, L Cerroni, C García, T Estrach, A García Herrera, B Ferrer, V García-Patos, N Segues, F J Díaz de la Pinta, J L Afonso-Martin, Y Peñate, M Á Limeres-Gonzalez, M Á González-Núñez, C González-Cruz, E García Fernández, L Cereceda, P Minguez, L de la Fuente, L Requena, S M Rodríguez-Pinilla\",\"doi\":\"10.1016/j.ad.2024.11.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and objective: </strong>subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed.</p><p><strong>Objectives: </strong>the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP.</p><p><strong>Materials and methods: </strong>we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained.</p><p><strong>Results: </strong>the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes.</p><p><strong>Conclusions: </strong>the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.</p>\",\"PeriodicalId\":7173,\"journal\":{\"name\":\"Actas dermo-sifiliograficas\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.8000,\"publicationDate\":\"2024-11-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Actas dermo-sifiliograficas\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.ad.2024.11.006\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Actas dermo-sifiliograficas","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.ad.2024.11.006","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DERMATOLOGY","Score":null,"Total":0}
Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.
Background and objective: subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed.
Objectives: the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP.
Materials and methods: we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained.
Results: the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes.
Conclusions: the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.
期刊介绍：
Actas Dermo-Sifiliográficas, publicación Oficial de la Academia Española de Dermatología y Venereología, es una revista de prestigio consolidado. Creada en 1909, es la revista mensual más antigua editada en España.En 2006 entró en Medline, y hoy resulta imprescindible para estar al día sobre la dermatología española y mundial.
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