1. A pituitary mass in a 46‐year‐old woman.
- Author
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Emiliani, Francesco E., Green, Donald C., Hughes, Edward G., Khan, Wahab A., Zanazzi, George J., and Lin, Chun‐Chieh
- Subjects
PITUITARY tumors ,FRAMESHIFT mutation ,HEDGEHOG signaling proteins ,GERM cell tumors ,MAGNETIC resonance imaging ,SPHENOID sinus ,CAVERNOUS sinus - Abstract
This article discusses the case of a 46-year-old woman who presented with left retro-orbital headaches and other symptoms. Magnetic resonance imaging (MRI) revealed a 2.7 cm pituitary mass. Intraoperative and histological examinations showed a poorly differentiated neoplasm with high mitotic counts and loss of nuclear SMARCB1/INI1 staining. Chromosomal microarray analysis and next-generation sequencing detected copy neutral loss of heterozygosity (cnLOH) in chromosome 22 and a frameshift deletion in the SMARCB1 gene. The tumor was classified as an adult sellar atypical teratoid/rhabdoid tumor (AT/RT) and was found to be of the MYC subtype. The article emphasizes the rarity of adult sellar AT/RT and the importance of accurate diagnosis through molecular and cytogenetic analysis. [Extracted from the article]
- Published
- 2024
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