Open Access

A novel mutation in PTEN in anaplastic thyroid carcinoma: A case report

  • Authors:
    • Yanli Zhao
  • View Affiliations

  • Published online on: July 2, 2024     https://doi.org/10.3892/br.2024.1815
  • Article Number: 127
  • Copyright: © Zhao . This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Anaplastic thyroid cancer (ATC) is a rare disease with a poor prognosis and accounts for a high proportion of thyroid cancer deaths. The present study reported on a 56‑year‑old male patient with ATC and examined the clinical manifestations, pathological features, differential diagnosis and genetic mutations. Immunohistochemical analysis showed positivity for vimentin, Ki‑67 and cytokeratin in the tumor specimen. In addition, pathological mitotic figures of tumor cells and intra‑lymph node metastasis were observed. Genetic analysis revealed the presence of a novel mutation (c.388C>T, p.R130X) in exon 5 of the phosphatase and tensin homolog (PTEN) gene, which was first detected in ATC. Gene conservation analysis showed that R130 is a highly conserved amino acid. Protein structure model predictions implied that p.R130X mutation results in a severe defect of the C2 domain and the TAD domain of PTEN, which may be a reason for the high malignancy of the tumor. The present case report highlights a novel mutation of PTEN in ATC, which expands the molecular spectrum of PTEN and further underlines the importance of PTEN.
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August-2024
Volume 21 Issue 2

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Spandidos Publications style
Zhao Y: A novel mutation in PTEN in anaplastic thyroid carcinoma: A case report. Biomed Rep 21: 127, 2024
APA
Zhao, Y. (2024). A novel mutation in PTEN in anaplastic thyroid carcinoma: A case report. Biomedical Reports, 21, 127. https://doi.org/10.3892/br.2024.1815
MLA
Zhao, Y."A novel mutation in PTEN in anaplastic thyroid carcinoma: A case report". Biomedical Reports 21.2 (2024): 127.
Chicago
Zhao, Y."A novel mutation in PTEN in anaplastic thyroid carcinoma: A case report". Biomedical Reports 21, no. 2 (2024): 127. https://doi.org/10.3892/br.2024.1815