دورية أكاديمية
GTF2I mutation in micronodular thymoma with lymphoid stroma.
| العنوان: | GTF2I mutation in micronodular thymoma with lymphoid stroma. |
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| المؤلفون: | Bille A; Department of Thoracic Surgery, Guy's and St Thomas' Hospitals NHS Foundation Trust, London, UK., Fryer K; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Wallace A; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Nonaka D; Department of Cellular Pathology, Guy's and St Thomas' Hospitals NHS Foundation Trust, London, UK DNonaka@msn.com. |
| المصدر: | Journal of clinical pathology [J Clin Pathol] 2024 Jan 18; Vol. 77 (2), pp. 125-127. Date of Electronic Publication: 2024 Jan 18. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : BMJ Pub. Group Original Publication: London : British Medical Association |
| مواضيع طبية MeSH: | Thymoma*/genetics , Thymus Neoplasms*/genetics , Thymus Neoplasms*/pathology , Myasthenia Gravis* , Transcription Factors, TFIII* , Transcription Factors, TFII*, Humans ; Mutation |
| مستخلص: | Aims: Micronodular thymoma with lymphoid stroma is a rare subtype of thymoma with characteristic clinical and pathological features. Some of the features, such as indolent nature, principally spindle morphology and no significant association to myasthenia gravis, are shared with type A and AB thymoma, which is closely linked to GTF2I mutation. However, not much is known regarding the molecular genetics of this thymoma subtype. In this study, the GTF2I mutation status was investigated in 16 cases of micronodular thymoma. Methods: 16 micronodular thymomas were retrieved and the GTF2I mutation was tested by Sanger sequencing. The clinicopathological findings were documented. Results: GTF2I c.1271T>A p.(Leu424His) mutation within exon 15 was detected in 14 out of 16 tumours (87.5%). Two patients died of other causes while all others remained alive with no evidence of recurrence during the follow-up period ranging from 19 to 188 months (median: 100 months). Conclusions: GTF2I mutation status and presence of spindle cell morphology may indicate that type A and AB thymoma, and micronodular thymoma represent a group biologically distinct from type B thymomas, which generally lack this mutation. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| فهرسة مساهمة: | Keywords: DIAGNOSIS; MOLECULAR BIOLOGY; Morphological and Microscopic Findings |
| المشرفين على المادة: | 0 (Transcription Factors, TFIII) 0 (GTF2I protein, human) 0 (Transcription Factors, TFII) |
| تواريخ الأحداث: | Date Created: 20230105 Date Completed: 20240122 Latest Revision: 20240122 |
| رمز التحديث: | 20240122 |
| DOI: | 10.1136/jcp-2022-208655 |
| PMID: | 36600564 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1472-4146 |
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| DOI: | 10.1136/jcp-2022-208655 |