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Head and neck INI1-deficient carcinoma without primary: a case report
Antoine Dubray-Vautrin1, Wahib Ghanem2, Laurence Bozec3
1Department of Oto-Rhino-Laryngology, Head & Neck Surgery, Institut Curie, 26 Rue D'Ulm, 75005, Paris, France. antoine.dubrayvautrin@curie.fr.
Journal of Medical Case Reports
|November 17, 2023
Summary
This study reports the first case of INI1-deficient neck carcinoma in a young woman, treated successfully with surgery, chemotherapy, and radiotherapy. Further research into SMARCB1 deletion is recommended for undifferentiated carcinomas in young patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- SMARCB1 (INI1) is a tumor suppressor gene involved in chromatin remodeling.
- SMARCB1-deficient tumors occur in various locations in both children and adults.
- INI1-deficient tumors are rare and often present as undifferentiated carcinomas.
Observation:
- A 29-year-old Caucasian woman presented with an INI1-deficient neck carcinoma without a detectable primary tumor.
- Histologic analysis revealed an undifferentiated carcinoma lacking glandular or epidermoid differentiation.
- Biomolecular analysis confirmed a homozygous deletion of the SMARCB1 gene via RNA sequencing.
Findings:
- The patient underwent surgical therapy and neck dissection, followed by chemotherapy and radiotherapy.
- Regional control was achieved and maintained for 18 months post-treatment.
- This represents the first reported case of INI1-deficient neck carcinoma managed with this therapeutic approach.
Implications:
- INI1 deletion testing should be considered for undifferentiated carcinomas in young patients.
- Molecular therapies targeting SMARCB1-deficient tumors, such as autophagy or proteasome inhibitors, may offer new treatment avenues.
- This case highlights the importance of molecular profiling in diagnosing and treating rare cancers.
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