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 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.

Low-Grade Papillary Schneiderian Carcinoma in the Nasal Cavity

“…The collective clinical observations of the LGPSC cases, including our own, are summarized in Supplemental Digital Content, Table 1, http://links.lww.com/SCS/F820. [1][2][3][4][5][6][7][8][9][10] The mean age of the affected individuals was 58.1 years. Among the 18 patients, only 5 (27.8%) were male, while the remaining 13 patients (72.2%), including our case, were female.…”

“…In contrast, 2 others lived with the disease, and 1 died of the disease. [1][2][3]9 At the time of this writing, there remains insufficient evidence to definitively establish the effectiveness of chemotherapeutic agents and radiation therapy in the treatment of LGPSC.…”

“…The collective clinical observations of the LGPSC cases, including our own, are summarized in Supplemental Digital Content, Table 1, http://links.lww.com/SCS/F820 1–10 . The mean age of the affected individuals was 58.1 years.…”

“…Only a few cases of LGPSC reported to date have received an initial histologic diagnosis of LGPSC 9,10 . Many previous cases were initially diagnosed as sinonasal papilloma during the initial biopsy and only later diagnosed as LGPSC after the final histopathological analysis after surgery.…”

“…Among the reported LGPSC cases, chemotherapy was administered in 5 instances, and at the last follow-up, 2 patients were disease free. In contrast, 2 others lived with the disease, and 1 died of the disease 1–3,9 . At the time of this writing, there remains insufficient evidence to definitively establish the effectiveness of chemotherapeutic agents and radiation therapy in the treatment of LGPSC.…”