case_images: PMC11832379_01
case_images: (A) Family tree with blue circles representing individuals affected with NF1. NF1var: NF1 variant carrier. NF1neg: NF1 variant screening negative. Arrow: proband. Crossed figures: deceased. (B) 18F-FDG PET/CT showing a pituitary lesion of with homogenous uptake of the contrast with a maximum standardized uptake value of 20.8. (C, D) sagittal and coronal gadolinium-enhanced MRI (T1), showing a 16x15x11 mm pituitary lesion on the left parasagittal aspect, contacting the wall of the cavernous sinus, with homogeneous enhancement and displacement of the pituitary stalk to the left and of the optic chiasm anteriorly. Arrowheads point to the lesion. (E) Timeline of patient evolution. TSS, transsphenoidal surgery; NGS, next generation sequencing.
case_images: fendo-16-1483305-g001.jpg
case_images: PMC11832379_01_fendo-16-1483305-g001.jpg
case_images: f1
case_images: One brother had primary biliary cirrhosis, and a nephew died at age 28 years from complications of epilepsy ( Figure 1A ). These symptoms prompted the indication for brain magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT), both revealing an incidental pituitary lesion; a pituitary MRI confirmed the diagnosis ( Figures 1B-D ). Because of important visual impairment, an endonasal endoscopic transsphenoidal surgery was performed without complications ( Figure 1E ).
case_images: (A) Histopathological images of the resected PitNET. Groups of normal anterior pituitary cells surrounding the tumor (arrowheads) are shown in images for HE and negative ACTH, GH, and PRL immunostaining. Routine preparations were retrieved from the pathology archive, except for NF1 immunostaining. Magnification: 40x. (B) Sanger sequencing results of multiple blood and PitNET genomic and coding DNA samples from the patient. (C) Quantitative polymerase chain reaction depicting different blood and PitNET samples. ACTH, adrenocorticotropic hormone; ACTHoma, corticotropinoma; cDNA, coding DNA; Cg, chromogranin; FFPE, formalin-fixed paraffin-embedded; gDNA, genomic DNA; GH, growth hormone; HE, hematoxylin-eosin; NTC, no template control; NF1 wt, NF1 wild type; No RT, no reverse transcriptase control; PRL, prolactin. PAS, periodic acid-Schiff staining. ns, not significant; *, P<=0.05; **, P<=0.01.
case_images: fendo-16-1483305-g002.jpg
case_images: PMC11832379_01_fendo-16-1483305-g002.jpg
case_images: f2
case_images: Immunostaining for other pituitary hormones and transcription factors was unavailable ( Figure 2A ).