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GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study

Thymomas are the most frequent adult mediastinal cancers. Their etiology is unknown and their pathogenesis poorly understood. Racial, ethnic and environmental factors influence tumorigenesis in many cancers, but their role in thymomas remains unclear to date. In this study that included pretreatment...

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Autores principales: Jain, Deepali, Guleria, Prerna, Singh, Varsha, Parshad, Rajinder, Kumar, Sunil, Gaiser, Timo, Kurz, Katrin S., Ott, German, Porubsky, Stefan, Preissler, Gerhard, Sauer, Christian G., Schölch, Sebastian, Ströbel, Philipp, Hielscher, Thomas, Marx, Alexander, Popovic, Zoran V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419886/
https://www.ncbi.nlm.nih.gov/pubmed/34497477
http://dx.doi.org/10.3389/pore.2021.1609858
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author Jain, Deepali
Guleria, Prerna
Singh, Varsha
Parshad, Rajinder
Kumar, Sunil
Gaiser, Timo
Kurz, Katrin S.
Ott, German
Porubsky, Stefan
Preissler, Gerhard
Sauer, Christian G.
Schölch, Sebastian
Ströbel, Philipp
Hielscher, Thomas
Marx, Alexander
Popovic, Zoran V.
author_facet Jain, Deepali
Guleria, Prerna
Singh, Varsha
Parshad, Rajinder
Kumar, Sunil
Gaiser, Timo
Kurz, Katrin S.
Ott, German
Porubsky, Stefan
Preissler, Gerhard
Sauer, Christian G.
Schölch, Sebastian
Ströbel, Philipp
Hielscher, Thomas
Marx, Alexander
Popovic, Zoran V.
author_sort Jain, Deepali
collection PubMed
description Thymomas are the most frequent adult mediastinal cancers. Their etiology is unknown and their pathogenesis poorly understood. Racial, ethnic and environmental factors influence tumorigenesis in many cancers, but their role in thymomas remains unclear to date. In this study that included pretreatment thymoma cases from India and Germany (n = 37 and n = 77, respectively) we compared i) the prevalence of the thymoma-specific chromosome 7 c.74146970T > A mutation of the GTF2I gene in type A and AB thymomas; ii) epidemiological features; and iii) the frequency of myasthenia gravis (MG). Due to a known predominance of GTF2I mutation in A and AB histotypes, we included only a marginal number of type B thymomas as a control group in both cohorts. While the distribution of histological types between the cohorts was similar (p = 0.1622), Indian patients were strikingly younger (p < 0.0001; median age 50 vs. 65 years) and showed significantly lower tumour stage (Masaoka-Koga stage I) at primary diagnosis (p = 0.0005) than the German patients. In patients with known MG status (n = 17 in Indian and n = 25 in German cohort), a clear trend towards more frequent MG was observed in the Indian group (p = 0.0504; 48 vs. 82%). The prevalence of the GTF2I mutation (analysed in n = 34 Indian and n = 77 German patients) was identical in the two cohorts. We conclude that racial-ethnic and environmental factors do not significantly influence the most common molecular feature of thymomas but may have an impact on the timing of clinical presentation.
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spelling pubmed-84198862021-09-07 GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study Jain, Deepali Guleria, Prerna Singh, Varsha Parshad, Rajinder Kumar, Sunil Gaiser, Timo Kurz, Katrin S. Ott, German Porubsky, Stefan Preissler, Gerhard Sauer, Christian G. Schölch, Sebastian Ströbel, Philipp Hielscher, Thomas Marx, Alexander Popovic, Zoran V. Pathol Oncol Res Pathology and Oncology Archive Thymomas are the most frequent adult mediastinal cancers. Their etiology is unknown and their pathogenesis poorly understood. Racial, ethnic and environmental factors influence tumorigenesis in many cancers, but their role in thymomas remains unclear to date. In this study that included pretreatment thymoma cases from India and Germany (n = 37 and n = 77, respectively) we compared i) the prevalence of the thymoma-specific chromosome 7 c.74146970T > A mutation of the GTF2I gene in type A and AB thymomas; ii) epidemiological features; and iii) the frequency of myasthenia gravis (MG). Due to a known predominance of GTF2I mutation in A and AB histotypes, we included only a marginal number of type B thymomas as a control group in both cohorts. While the distribution of histological types between the cohorts was similar (p = 0.1622), Indian patients were strikingly younger (p < 0.0001; median age 50 vs. 65 years) and showed significantly lower tumour stage (Masaoka-Koga stage I) at primary diagnosis (p = 0.0005) than the German patients. In patients with known MG status (n = 17 in Indian and n = 25 in German cohort), a clear trend towards more frequent MG was observed in the Indian group (p = 0.0504; 48 vs. 82%). The prevalence of the GTF2I mutation (analysed in n = 34 Indian and n = 77 German patients) was identical in the two cohorts. We conclude that racial-ethnic and environmental factors do not significantly influence the most common molecular feature of thymomas but may have an impact on the timing of clinical presentation. Frontiers Media S.A. 2021-08-23 /pmc/articles/PMC8419886/ /pubmed/34497477 http://dx.doi.org/10.3389/pore.2021.1609858 Text en Copyright © 2021 Jain, Guleria, Singh, Parshad, Kumar, Gaiser, Kurz, Ott, Porubsky, Preissler, Sauer, Schölch, Ströbel, Hielscher, Marx and Popovic. 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 Pathology and Oncology Archive
Jain, Deepali
Guleria, Prerna
Singh, Varsha
Parshad, Rajinder
Kumar, Sunil
Gaiser, Timo
Kurz, Katrin S.
Ott, German
Porubsky, Stefan
Preissler, Gerhard
Sauer, Christian G.
Schölch, Sebastian
Ströbel, Philipp
Hielscher, Thomas
Marx, Alexander
Popovic, Zoran V.
GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
title GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
title_full GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
title_fullStr GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
title_full_unstemmed GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
title_short GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
title_sort gtf2i mutation in thymomas: independence from racial-ethnic backgrounds. an indian/german comparative study
topic Pathology and Oncology Archive
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419886/
https://www.ncbi.nlm.nih.gov/pubmed/34497477
http://dx.doi.org/10.3389/pore.2021.1609858
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