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A mutational profile in multiple thymic squamous cell carcinoma.

Chun Jin1, Cheng Yan2, Yi Zhang1

  • 1Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.

Gland Surgery
|February 12, 2020
PubMed
Summary

Multiple thymic squamous cell carcinoma (TSCC) nodules from one patient shared similar genetic profiles, suggesting metastasis within the thymus. This indicates total thymectomy may be an effective treatment for thymic epithelial tumors.

Keywords:
Thymic squamous cell carcinoma (TSCC)exome sequencingthymectomy

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Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Multiple thymic squamous cell carcinoma (TSCC) is a rare thymic epithelial tumor with a poor prognosis.
  • Understanding the mutational profiles of multiple TSCC is crucial for advancing tumorigenesis research and treatment strategies.

Purpose of the Study:

  • To investigate the genetic landscape of multiple TSCC nodules within a single patient.
  • To determine the relationship between spatially distinct TSCC nodules and inform treatment approaches.

Main Methods:

  • Whole-exome sequencing of three TSCC nodules and paired peripheral blood.
  • Identification of single-nucleotide variants and small insertions/deletions.
  • Gene ontology and pathway analyses, alongside immunohistochemistry for TP53 and ARID1A.

Main Results:

  • The three TSCC nodules exhibited highly similar histology and shared 34 common non-synonymous somatic mutations, including in TP53 and ARID1A.
  • Immunohistochemistry confirmed similar TP53 and ARID1A expression levels across nodules.
  • Genetic alterations revealed similar significantly enriched pathways, indicating a common origin despite spatial independence.

Conclusions:

  • The findings suggest intrathymic metastasis of TSCC cells.
  • Total thymectomy is proposed as a potentially effective treatment for thymic epithelial tumors.