Related Experiment Video
Updated: Mar 21, 2026
Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
A Case of Sinonasal Melanoma With Unusual Primary Exon 17 KIT D820G Mutation
Emanuela Pilozzi1, Armando Bartolazzi, Flavio Fochetti
1*Department of Clinical and Molecular Medicine, University "La Sapienza" †Radiotherapy Unit ‡ENT Unit, Sant'Andrea Hospital, Roma, Italy.
Abstract:
Sinonasal melanomas are rare neoplasms with poor prognosis that may harbor KIT and NRAS genes mutations. Molecular alterations represent possible targets of tailored therapeutic approaches. We describe the case of a 74-year-old patient with primary melanoma of the nasal cavity. Mutational analysis of KIT demonstrated a point missense mutation D820G in exon 17. This represents, to our knowledge, the first case of sinonasal melanoma harboring this specific KIT mutation. Although KIT mutations confer sensibility to thyrosine-kinase inhibitor, it has been proved that this is strongly dependent on the region in which this alteration occurs. Thus it seems very important to perform an accurate gene mutational analysis to provide a biological rationale to the tailored therapy.
Insights
This study reports the first sinonasal melanoma case with a specific KIT D820G mutation. Accurate gene analysis is crucial for targeted therapy in rare sinonasal melanomas.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Sinonasal melanomas are rare, aggressive cancers with limited treatment options.
- Identifying molecular alterations is key for developing targeted therapies.
Observation:
- A case of a 74-year-old patient with primary nasal cavity melanoma was analyzed.
- Genetic sequencing revealed a KIT D820G point missense mutation in exon 17.
Findings:
- This is the first documented instance of a sinonasal melanoma harboring the specific KIT D820G mutation.
- The KIT D820G mutation's location influences sensitivity to tyrosine-kinase inhibitors.
Implications:
- Precise mutational analysis of KIT is essential for guiding personalized treatment strategies.
- This finding may improve therapeutic approaches for sinonasal melanoma patients.
Related Concept Videos
01:20The Retinoblastoma Gene
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
02:23Abnormal Proliferation