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(A) Family tree with blue circles representing individuals affected with NF1. NF1 var: NF1 variant carrier. NF1 neg: 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; <t>NGS,</t> next generation <t>sequencing.</t>
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Thermo Fisher next generation panel sequencing ion ampliseqtm cancer hotspot panel v2
(A) Family tree with blue circles representing individuals affected with NF1. NF1 var: NF1 variant carrier. NF1 neg: 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; <t>NGS,</t> next generation <t>sequencing.</t>
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Image Search Results


(A) Family tree with blue circles representing individuals affected with NF1. NF1 var: NF1 variant carrier. NF1 neg: 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.

Journal: Frontiers in Endocrinology

Article Title: Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report

doi: 10.3389/fendo.2025.1483305

Figure Lengend Snippet: (A) Family tree with blue circles representing individuals affected with NF1. NF1 var: NF1 variant carrier. NF1 neg: 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.

Article Snippet: A blood sample of the patient was first studied in a routine diagnostic laboratory via a next-generation sequencing (NGS) panel (Invitae Common Hereditary Cancers Panel).

Techniques: Variant Assay, Positron Emission Tomography-Computed Tomography, Next-Generation Sequencing