Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature
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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-04-01
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| Series: | Diagnostic Pathology |
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| Online Access: | https://doi.org/10.1186/s13000-023-01334-8 |
| _version_ | 1797846069841756160 |
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| author | Sayaka Yuzawa Tomohiko Michizuka Rika Kakisaka Yusuke Ono Manami Hayashi Miki Takahara Akihiro Katada Yusuke Mizukami Mishie Tanino |
| author_facet | Sayaka Yuzawa Tomohiko Michizuka Rika Kakisaka Yusuke Ono Manami Hayashi Miki Takahara Akihiro Katada Yusuke Mizukami Mishie Tanino |
| author_sort | Sayaka Yuzawa |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T17:50:11Z |
| format | Article |
| id | doaj.art-375abff4d81a4750bcc3d58371af8579 |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-04-09T17:50:11Z |
| publishDate | 2023-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-375abff4d81a4750bcc3d58371af85792023-04-16T11:05:39ZengBMCDiagnostic Pathology1746-15962023-04-011811810.1186/s13000-023-01334-8Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literatureSayaka Yuzawa0Tomohiko Michizuka1Rika Kakisaka2Yusuke Ono3Manami Hayashi4Miki Takahara5Akihiro Katada6Yusuke Mizukami7Mishie Tanino8Department of Diagnostic Pathology, Asahikawa Medical University HospitalDepartment of Otolaryngology Head and Neck Surgery, Asahikawa Medical UniversityInstitute of Biomedical Research, Sapporo Higashi Tokushukai HospitalInstitute of Biomedical Research, Sapporo Higashi Tokushukai HospitalDepartment of Diagnostic Pathology, Asahikawa Medical University HospitalDepartment of Otolaryngology Head and Neck Surgery, Asahikawa Medical UniversityDepartment of Otolaryngology Head and Neck Surgery, Asahikawa Medical UniversityInstitute of Biomedical Research, Sapporo Higashi Tokushukai HospitalDepartment of Diagnostic Pathology, Asahikawa Medical University HospitalAbstract 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.https://doi.org/10.1186/s13000-023-01334-8Low-grade papillary Schneiderian carcinomaSinonasal tractTP53DEK::AFF2 fusion |
| spellingShingle | Sayaka Yuzawa Tomohiko Michizuka Rika Kakisaka Yusuke Ono Manami Hayashi Miki Takahara Akihiro Katada Yusuke Mizukami Mishie Tanino Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature Diagnostic Pathology Low-grade papillary Schneiderian carcinoma Sinonasal tract TP53 DEK::AFF2 fusion |
| title | Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
| title_full | Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
| title_fullStr | Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
| title_full_unstemmed | Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
| title_short | Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
| title_sort | low grade papillary schneiderian carcinoma with tp53 mutation a case report and review of the literature |
| topic | Low-grade papillary Schneiderian carcinoma Sinonasal tract TP53 DEK::AFF2 fusion |
| url | https://doi.org/10.1186/s13000-023-01334-8 |
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