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Updated: Dec 21, 2025
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Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
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PIK3CA somatic mutation in sinonasal teratocarcinosarcoma
Francesca Belardinilli1, Ludovica De Vincentiis1, Aurelio D'Ecclesia2
1Department of Molecular Medicine, Sapienza University, Viale Regina Elena 291 Rome, Italy.
Auris, Nasus, Larynx
|May 12, 2020
Summary
Sinonasal Teratocarcinosarcoma (SNTCS) is a rare cancer. Genetic analysis revealed PIK3CA mutations, suggesting a potential target for precision medicine in treating this aggressive tumor.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Sinonasal Teratocarcinosarcoma (SNTCS) is a rare, aggressive tumor with unknown molecular drivers.
- Its challenging location and high recurrence rate necessitate novel treatment strategies.
Observation:
- A 55-year-old male with naso-ethmoidal SNTCS underwent surgery, radiotherapy, and chemotherapy.
- Multigene panel sequencing was performed on tumor and adjacent normal mucosa.
Findings:
- Somatic pathogenic mutation identified in PIK3CA (p.His1047Leu).
- Germline alteration found in DDR2 (p.Pro476Leu), with unknown oncogenic function.
- PIK3CA mutation suggests a role in SNTCS tumorigenesis.
Implications:
- PIK3CA mutations may represent a therapeutic target for SNTCS.
- This finding opens avenues for precision medicine approaches in treating SNTCS.
- Further research into the molecular pathogenesis of SNTCS is warranted.
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