A case of primary papillary epithelial tumor of the sella with reverse polarity and paired box 8 expression.

Abstract

Primary papillary epithelial tumor of the sella (PPETS) is a rare sellar neoplasm characterized by distinctive papillary architecture and thyroid transcription factor 1 (TTF-1) expression. DNA methylation profiling suggests its classification within the posterior pituitary tumor category. Here, we report a case of PPETS in a 37 year-old female presenting with amenorrhea, featuring unique morphological and immunohistochemical characteristics. The tumor exhibited atypical reversed nuclear polarity and, notably, demonstrated positive expression of paired box 8 (PAX-8) and synaptophysin-findings not previously reported in PPETS. Following comprehensive evaluation, including DNA methylation analysis and exclusion of metastatic disease, the tumor was classified as a posterior pituitary tumor, confirming the diagnosis of PPETS. This case expands the known morphological and immunohistochemical spectrum of PPETS, highlighting the importance of careful differential diagnosis from pituitary adenomas and metastatic carcinomas. Further investigation is warranted to fully characterize the morphological variants and immunophenotypic diversity of this rare tumor type.