Cargando…
Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature
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 met...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088127/ https://www.ncbi.nlm.nih.gov/pubmed/37041626 http://dx.doi.org/10.1186/s13000-023-01334-8 |
_version_ | 1785022502631636992 |
---|---|
author | Yuzawa, Sayaka Michizuka, Tomohiko Kakisaka, Rika Ono, Yusuke Hayashi, Manami Takahara, Miki Katada, Akihiro Mizukami, Yusuke Tanino, Mishie |
author_facet | Yuzawa, Sayaka Michizuka, Tomohiko Kakisaka, Rika Ono, Yusuke Hayashi, Manami Takahara, Miki Katada, Akihiro Mizukami, Yusuke Tanino, Mishie |
author_sort | Yuzawa, Sayaka |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10088127 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-100881272023-04-12 Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature Yuzawa, Sayaka Michizuka, Tomohiko Kakisaka, Rika Ono, Yusuke Hayashi, Manami Takahara, Miki Katada, Akihiro Mizukami, Yusuke Tanino, Mishie Diagn Pathol Case Report 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. BioMed Central 2023-04-11 /pmc/articles/PMC10088127/ /pubmed/37041626 http://dx.doi.org/10.1186/s13000-023-01334-8 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Yuzawa, Sayaka Michizuka, Tomohiko Kakisaka, Rika Ono, Yusuke Hayashi, Manami Takahara, Miki Katada, Akihiro Mizukami, Yusuke Tanino, Mishie Low-grade papillary Schneiderian carcinoma with TP53 mutation: a case report and review of the literature |
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 | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088127/ https://www.ncbi.nlm.nih.gov/pubmed/37041626 http://dx.doi.org/10.1186/s13000-023-01334-8 |
work_keys_str_mv | AT yuzawasayaka lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT michizukatomohiko lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT kakisakarika lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT onoyusuke lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT hayashimanami lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT takaharamiki lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT katadaakihiro lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT mizukamiyusuke lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature AT taninomishie lowgradepapillaryschneideriancarcinomawithtp53mutationacasereportandreviewoftheliterature |