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Purpose <p>Adamantinomatous craniopharyngioma (ACP) is a benign but surgically challenging intracranial tumor, and its high postoperative recurrence rate poses a threat to patient prognosis. In this study, whole exome sequencing (WES) was performed to comprehensively understand the genomic alterations in ACP.</p> Methods <p>First, the gene mutation profile of ACP was acquired through an overview of the WES data. The somatic single nucleotide variants (SNV) mutational spectrum and signature of ACP were analyzed. Subsequently, somatic mutation data were used to identify the characteristic SNV of recurrent ACP to further explore the mechanism underlying recurrence, and the effect of these mutations on protein expression was verified through immunohistochemical and immunofluorescence analyses.</p> Results <p>We obtained the overall mutational landscape of ACP and identified four key mutated genes in recurrent samples: Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3 (<i>PLOD3</i>), Collagen Type XVII Alpha 1 chain (<i>COL17A1</i>), Fibronectin 1 (<i>FN1</i>), and Laminin Subunit Beta 3 (<i>LAMB3</i>). Among these, we verified that COL17A1, FN1, and LAMB3 expression was mainly located in the keratin nodule structures in tumors and was elevated in recurrent cases.</p> Conclusion <p><i>PLOD3</i>, <i>COL17A1</i>, <i>FN1</i>, and <i>LAMB3</i> were identified as the key mutated genes in recurrent samples. These findings could provide a new perspective for understanding the tumorigenesis and recurrence mechanisms of ACP. A deeper exploration is needed to determine whether these key mutated genes promote ACP recurrence and drive the overproduction of keratin nodules in recurrent cases.</p>

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Whole exome sequencing study of adamantinomatous craniopharyngioma reveals the mutational characteristics of recurrent cases

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月29日

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  • Dongting Chen,
  • Ling Ye,
  • Zaitao Yu,
  • Ting Lei,
  • Yulin Wang,
  • Zheng Qu,
  • Zhongqing Zhou,
  • Jiacheng Lv,
  • Fangjun Liu,
  • Yan Li

摘要

Purpose

Adamantinomatous craniopharyngioma (ACP) is a benign but surgically challenging intracranial tumor, and its high postoperative recurrence rate poses a threat to patient prognosis. In this study, whole exome sequencing (WES) was performed to comprehensively understand the genomic alterations in ACP.

Methods

First, the gene mutation profile of ACP was acquired through an overview of the WES data. The somatic single nucleotide variants (SNV) mutational spectrum and signature of ACP were analyzed. Subsequently, somatic mutation data were used to identify the characteristic SNV of recurrent ACP to further explore the mechanism underlying recurrence, and the effect of these mutations on protein expression was verified through immunohistochemical and immunofluorescence analyses.

Results

We obtained the overall mutational landscape of ACP and identified four key mutated genes in recurrent samples: Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3 (PLOD3), Collagen Type XVII Alpha 1 chain (COL17A1), Fibronectin 1 (FN1), and Laminin Subunit Beta 3 (LAMB3). Among these, we verified that COL17A1, FN1, and LAMB3 expression was mainly located in the keratin nodule structures in tumors and was elevated in recurrent cases.

Conclusion

PLOD3, COL17A1, FN1, and LAMB3 were identified as the key mutated genes in recurrent samples. These findings could provide a new perspective for understanding the tumorigenesis and recurrence mechanisms of ACP. A deeper exploration is needed to determine whether these key mutated genes promote ACP recurrence and drive the overproduction of keratin nodules in recurrent cases.