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000170557 0247_ $$2ISSN$$a1532-2807
000170557 037__ $$aDKFZ-2021-02008
000170557 041__ $$aEnglish
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000170557 1001_ $$aJain, Deepali$$b0
000170557 245__ $$aGTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study.
000170557 260__ $$aHeidelberg$$bSpringer$$c2021
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000170557 520__ $$aThymomas are the most frequent adult mediastinal cancers. Their etiology is unknown and their pathogenesis poorly understood. Racial, ethnic and environmental factors influence tumorigenesis in many cancers, but their role in thymomas remains unclear to date. In this study that included pretreatment thymoma cases from India and Germany (n = 37 and n = 77, respectively) we compared i) the prevalence of the thymoma-specific chromosome 7 c.74146970T > A mutation of the GTF2I gene in type A and AB thymomas; ii) epidemiological features; and iii) the frequency of myasthenia gravis (MG). Due to a known predominance of GTF2I mutation in A and AB histotypes, we included only a marginal number of type B thymomas as a control group in both cohorts. While the distribution of histological types between the cohorts was similar (p = 0.1622), Indian patients were strikingly younger (p < 0.0001; median age 50 vs. 65 years) and showed significantly lower tumour stage (Masaoka-Koga stage I) at primary diagnosis (p = 0.0005) than the German patients. In patients with known MG status (n = 17 in Indian and n = 25 in German cohort), a clear trend towards more frequent MG was observed in the Indian group (p = 0.0504; 48 vs. 82%). The prevalence of the GTF2I mutation (analysed in n = 34 Indian and n = 77 German patients) was identical in the two cohorts. We conclude that racial-ethnic and environmental factors do not significantly influence the most common molecular feature of thymomas but may have an impact on the timing of clinical presentation.
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000170557 650_7 $$2Other$$aGTF2I mutation
000170557 650_7 $$2Other$$aepidemiology
000170557 650_7 $$2Other$$amyasthenia gravis
000170557 650_7 $$2Other$$aracial-ethnic factors
000170557 650_7 $$2Other$$athymoma
000170557 7001_ $$aGuleria, Prerna$$b1
000170557 7001_ $$aSingh, Varsha$$b2
000170557 7001_ $$aParshad, Rajinder$$b3
000170557 7001_ $$aKumar, Sunil$$b4
000170557 7001_ $$aGaiser, Timo$$b5
000170557 7001_ $$aKurz, Katrin S$$b6
000170557 7001_ $$aOtt, German$$b7
000170557 7001_ $$aPorubsky, Stefan$$b8
000170557 7001_ $$aPreissler, Gerhard$$b9
000170557 7001_ $$aSauer, Christian G$$b10
000170557 7001_ $$0P:(DE-He78)a9d57fe3333789705a9ceb9ca904e83e$$aSchölch, Sebastian$$b11$$udkfz
000170557 7001_ $$aStröbel, Philipp$$b12
000170557 7001_ $$0P:(DE-He78)743a4a82daab55306a2c88b9f6bf8c2f$$aHielscher, Thomas$$b13$$udkfz
000170557 7001_ $$aMarx, Alexander$$b14
000170557 7001_ $$aPopovic, Zoran V$$b15
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