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Recurrent FGFR2 and PIK3CA Mutations in Sialoblastoma.

Selene C Koo1, Jingqun Ma1, Quynh T Tran1

  • 1Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Head and Neck Pathology
|September 4, 2025
PubMed
Summary

Sialoblastoma, a rare infant salivary gland tumor, is often driven by FGFR2 mutations, correlating with aggressive features. Alternative drivers like CTNNB1 mutations suggest links to other rare tumors.

Keywords:
CTNNB1FGFR2PIK3CACongenitalSalivary glandSialoblastoma

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Area of Science:

  • Oncology
  • Genetics
  • Pediatric Pathology

Background:

  • Sialoblastoma is a rare, low-grade malignant salivary gland neoplasm presenting in infancy.
  • Its heterogeneous clinical behavior and rarity limit comprehensive molecular characterization.

Purpose of the Study:

  • To expand the understanding of genetic alterations in sialoblastoma.
  • To identify key molecular drivers and genomic landscape of this rare tumor.

Main Methods:

  • Comprehensive molecular analysis of five sialoblastoma cases.
  • Targeted next-generation sequencing and copy number analysis were performed.

Main Results:

  • Recurrent FGFR2 p.C382R variants identified in 80% of cases, associated with aggressive histology.
  • PIK3CA mutations found in two FGFR2-mutated tumors.
  • One tumor without FGFR2 mutation harbored a CTNNB1 variant, suggesting alternative drivers.

Conclusions:

  • FGFR2 p.C382R mutation is a predominant driver in a subset of sialoblastomas, linked to aggressive behavior.
  • Genomic alterations identified expand the molecular landscape of sialoblastoma.
  • CTNNB1 mutations suggest potential overlap with other infant salivary gland tumors.