Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors
| Autor: | Timothy P. Zinkus, Maxine Hetherington, Elena Repnikova, Lorien Paulson, Midhat S. Farooqi, Divya S Vundamati, Atif A. Ahmed |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Leiomyosarcoma Male Pathology medicine.medical_specialty Cribriform plate Skull Base Neoplasms Germline Diagnosis Differential 03 medical and health sciences 0302 clinical medicine GNAS complex locus medicine Chromogranins GTP-Binding Protein alpha Subunits Gs Humans beta Catenin biology business.industry Fibromatosis Fibroma Desmoplastic High-Throughput Nucleotide Sequencing Infant Histology medicine.disease Skull 030104 developmental biology medicine.anatomical_structure Otorhinolaryngology Anterior cranial fossa 030220 oncology & carcinogenesis Child Preschool Mutation biology.protein Immunohistochemistry Female business Paranasal Sinus Neoplasms |
| Zdroj: | Ear, nose,throat journal. 100(5) |
| ISSN: | 1942-7522 |
| Popis: | The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with immunohistochemical and/or molecular tests. We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.4-cm midline nasal cavity mass involving the bony septum and extending into the base of the skull bilaterally. The moderate cellular fibroblastic proliferation revealed areas of thick keloid-like collagen bands and other areas with myxoid edematous stroma. Deep targeted sequencing identified a novel G34V mutation in the CTNNB1 gene consistent with desmoid fibromatosis. An 11-month-old male infant presented with a right nasal mass that extended through the cribriform plate into the anterior cranial fossa and involved the right ethmoid sinus and adjacent right orbit. Histology revealed an infiltrative atypical fibrous proliferation with focal calcifications that was negative for CTNNB1 and GNAS mutations. A novel RET E511K variant was identified in the tumor and later was also found in the germline and hence rendered of unknown significance. Both cases highlight the utility of next-generation sequencing in the evaluation of pediatric sinonasal spindle cell tumors that may have overlapping pathologic features. Reporting of rare or novel variants in tumor-only sequencing should be cautiously evaluated in children and pairing with germline sequencing may be needed to avoid the pitfall of assigning uncommon variants. |
| Databáze: | OpenAIRE |
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