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@ARTICLE{Jain:170557,
author = {D. Jain and P. Guleria and V. Singh and R. Parshad and S.
Kumar and T. Gaiser and K. S. Kurz and G. Ott and S.
Porubsky and G. Preissler and C. G. Sauer and S.
Schölch$^*$ and P. Ströbel and T. Hielscher$^*$ and A.
Marx and Z. V. Popovic},
title = {{GTF}2{I} {M}utation in {T}hymomas: {I}ndependence {F}rom
{R}acial-{E}thnic {B}ackgrounds. {A}n {I}ndian/{G}erman
{C}omparative {S}tudy.},
journal = {Pathology $\&$ oncology research},
volume = {27},
issn = {1532-2807},
address = {Heidelberg},
publisher = {Springer},
reportid = {DKFZ-2021-02008},
pages = {1609858},
year = {2021},
abstract = {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.},
keywords = {GTF2I mutation (Other) / epidemiology (Other) / myasthenia
gravis (Other) / racial-ethnic factors (Other) / thymoma
(Other)},
cin = {A430 / C060},
ddc = {610},
cid = {I:(DE-He78)A430-20160331 / I:(DE-He78)C060-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:34497477},
pmc = {pmc:PMC8419886},
doi = {10.3389/pore.2021.1609858},
url = {https://inrepo02.dkfz.de/record/170557},
}