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C-KIT mutation in thymic carcinomas.

Neslihan Terzi1, Ismail Yilmaz1, Sebnem Batur2

  • 1Department of Pathology, University of Health Sciences, Sultan Abdulhamid Han Training and Research Hospital, Istanbul, Turkey.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists
|July 31, 2020
PubMed
Summary

This study found no KIT or TERT gene mutations in thymic carcinomas. However, c-KIT expression was linked to worse survival, suggesting a negative prognostic role in thymic malignancies.

Keywords:
KITimmunohistochemical stainingmutation analysissurvival analysis.thymic cancer

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Thymic epithelial tumours are rare anterior superior mediastinum malignancies.
  • Previous research has explored c-KIT mutations in thymic carcinoma.
  • Investigating genetic mutations and protein expression is crucial for understanding thymic carcinoma prognosis.

Purpose of the Study:

  • To analyze c-KIT expression and mutations in KIT and TERT genes in thymic carcinomas.
  • To determine the prognostic significance of c-KIT expression and specific gene mutations in thymic carcinoma.
  • To correlate clinical-pathological features with overall survival in thymic carcinoma patients.

Main Methods:

  • Analysis of immunohistochemical c-KIT expression.
  • PCR-based direct sequencing of KIT gene exons (8, 9, 11, 13, 14, 17, 18) and TERT gene promoter region.
  • Utilized formalin-fixed paraffin-embedded tumour samples from 18 thymic carcinoma patients.

Main Results:

  • No KIT or TERT gene mutations were detected in the 14 evaluable thymic carcinoma samples.
  • C-KIT expression was associated with significantly worse overall survival (p=0.05).
  • Squamous cell carcinomas showed worse survival compared to other subtypes; TNM stage II correlated with better OS (p=0.015).

Conclusions:

  • C-KIT expression, not mutations, appears to have a negative prognostic role in thymic carcinoma, particularly within the first five years.
  • Thymic carcinoma exhibits a KIT-positive and CD5-positive staining pattern.
  • Further research is warranted to elucidate the role of c-KIT in thymic tumorigenesis and progression.