Constant p.L424H Mutation in GTF2I in Micronodular Thymomas With Lymphoid Stroma: Evidence Supporting Close Relationship With Type A and AB Thymomas

Hsieh, Min‐Shu; Kao, Hua-Lin; Huang, Wenli; Wang, Shuying; Lin, Shin-Ying; Chu, Ping-Yuan; Pan, Chin-Chen; Chou, Teh-Ying; Ho, Hsiang‐Ling; Yeh, Yi‐Chen

doi:10.1016/j.modpat.2022.100008

Cited by 3 publications

(4 citation statements)

References 19 publications

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“…Impressively, an investigation into micronodular thymoma with lymphoid stroma revealed a consistent occurrence of the GTF2I p.L424H mutation across all twelve sampled thymoma specimens, establishing the GTF2I p.L424H mutation as an invariable genetic hallmark of micronodular thymomas with lymphoid stroma. These findings compellingly infer a profound correlation between micronodular thymomas with lymphoid stroma and their type A and AB counterparts ( 26 ).…”

Section: Gene Mutation Abnormalitiesmentioning

confidence: 81%

Unraveling molecular networks in thymic epithelial tumors: deciphering the unique signatures

Zhang,

Cong

et al. 2023

Front. Immunol.

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Thymic epithelial tumors (TETs) are a rare and diverse group of neoplasms characterized by distinct molecular signatures. This review delves into the complex molecular networks of TETs, highlighting key aspects such as chromosomal abnormalities, molecular subtypes, aberrant gene mutations and expressions, structural gene rearrangements, and epigenetic changes. Additionally, the influence of the dynamic tumor microenvironment on TET behavior and therapeutic responses is examined. A thorough understanding of these facets elucidates TET pathogenesis, offering avenues for enhancing diagnostic accuracy, refining prognostic assessments, and tailoring targeted therapeutic strategies. Our review underscores the importance of deciphering TETs’ unique molecular signatures to advance personalized treatment paradigms and improve patient outcomes. We also discuss future research directions and anticipated challenges in this intriguing field.

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Section: Gene Mutation Abnormalitiesmentioning

confidence: 81%

Unraveling molecular networks in thymic epithelial tumors: deciphering the unique signatures

Zhang,

Cong

et al. 2023

Front. Immunol.

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“…Further studies, including a recently meta-analysis, confirmed that GTF2I mutations, along with TP53 and HRAS, are prevalent in thymomas, contributing to disease onset and progression [14]. Furthermore, the persistence of specific GTF2I mutations in certain subtypes could suggest a strong genetic link between them, which is exemplified in MN-T and Type A/AB thymomas [13,14].…”

Section: Next Generation Sequencingmentioning

confidence: 90%

“…This mutation, particularly p.Leu404His, has been reported to be specific for TETs, mainly in Type A and AB thymomas, with a presence in 76-83% of cases, and which occurs less frequently in other subtypes, notably only in 8% of TCs [12]. Hsieh et al also report the presence of another point GTF2I mutation, namely p.Leu424His, in multinodular thymoma with lymphoid stroma (MN-T) and suggest that this mutation consistently characterizes this histological subtype [13]. However, there are regional variations; studies in Japanese patients identified GTF2I mutations in all thymoma types except for Type B3, which may, in a few cases, show SMARCB1 and STK11 gene mutations [11].…”

Section: Next Generation Sequencingmentioning

confidence: 99%

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The Molecular Landscape of Thymic Epithelial Tumors: A Comprehensive Review

Elm,

Levidou

2024

IJMS

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Thymic epithelial tumors (TETs) are characterized by their extreme rarity and variable clinical presentation, with the inadequacy of the use of histological classification alone to distinguish biologically indolent from aggressive cases. The utilization of Next Generation Sequencing (NGS) to unravel the intricate genetic landscape of TETs could offer us a comprehensive understanding that is crucial for precise diagnoses, prognoses, and potential therapeutic strategies. Despite the low tumor mutational burden of TETS, NGS allows for exploration of specific genetic signatures contributing to TET onset and progression. Thymomas exhibit a limited mutational load, with prevalent GTF2I and HRAS mutations. On the other hand, thymic carcinomas (TCs) exhibit an elevated mutational burden, marked by frequent mutations in TP53 and genes associated with epigenetic regulation. Moreover, signaling pathway analyses highlight dysregulation in crucial cellular functions and pathways. Targeted therapies, and ongoing clinical trials show promising results, addressing challenges rooted in the scarcity of actionable mutations and limited genomic understanding. International collaborations and data-sharing initiatives are crucial for breakthroughs in TETs research.

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