Bibliographic Details
| Title: |
Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
| Authors: |
Sayaka Yuzawa, Tomohiko Michizuka, Rika Kakisaka, Yusuke Ono, Manami Hayashi, Miki Takahara, Akihiro Katada, Yusuke Mizukami, Mishie Tanino |
| Source: |
Diagnostic Pathology, Vol 18, Iss 1, Pp 1-8 (2023) |
| Publisher Information: |
BMC, 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Pathology |
| Subject Terms: |
Low-grade papillary Schneiderian carcinoma, Sinonasal tract, TP53, DEK::AFF2 fusion, Pathology, RB1-214 |
| More Details: |
Abstract Background Low-grade papillary Schneiderian carcinoma (LGPSC) is a relatively new entity of the sinonasal tract and is characterized by a bland morphology simulating sinonasal papilloma, invasive growth pattern with pushing borders, and aggressive clinical behavior with multiple recurrences and metastatic potential. Recently, DEK::AFF2 fusions were identified in LGPSC. However, some LPGSCs lack DEK::AFF2 fusion, and the molecular features of these tumors have not been clarified. Case presentation A 69-year-old man presented with a discharge of pus from his left cheek. Computed tomography revealed a mass involving the left maxillary sinus, ethmoid sinus, and nasal cavity with the destruction of the orbital wall. The biopsy specimens showed that the tumor had a predominantly exophytic, papillary growth and did not have an apparent stromal invasion. The tumor was composed of multilayered epithelium that showed bland morphology with a round to polygonal shape, abundant eosinophilic cytoplasm, and uniform nuclei. Dense neutrophilic infiltrates were focally present. Immunohistochemically, CK5/6 was strongly and diffusely positive, and p16 was negative. p63 was mainly positive in the basal layer, and EMA was predominantly expressed in the outermost cell layer. DNA-based targeted sequencing showed TP53 R175H mutation, whereas neither EGFR nor KRAS mutation was identified. Reverse transcription polymerase chain reaction and fluorescence in situ hybridization revealed no DEK::AFF2 fusion. Conclusions We describe the first case of TP53-mutant LGPSC and review the literature. LGPSC is a genetically heterogeneous entity, and the recognition of this rare entity and comprehensive assessment of clinicopathological and molecular findings are crucial for the correct pathological diagnosis and clinical management. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1746-1596 |
| Relation: |
https://doaj.org/toc/1746-1596 |
| DOI: |
10.1186/s13000-023-01334-8 |
| Access URL: |
https://doaj.org/article/375abff4d81a4750bcc3d58371af8579 |
| Accession Number: |
edsdoj.375abff4d81a4750bcc3d58371af8579 |
| Database: |
Directory of Open Access Journals |
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