case_images: PMC11190172_01
case_images: Imaging studies of the patient. (A) CT Intravenous pyelogram demonstrating an enhancing 3.7 cm bladder mass centered near the left ureterovesical junction without hydronephrosis or lymphadenopathy. (B) MRI pelvis and abdomen showing a well-defined 3.8 cm mass (arrows) in the anterior inferior aspect of the bladder abutting the urethra and vagina with a mild hypertense signal on T2 weighted image.
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case_images: PMC11190172_01_fendo-15-1386285-g001.jpg
case_images: f1
case_images: A CT intravenous pyelogram revealed an enhancing 3.7 cm bladder mass centered near the left ureterovesical junction without hydronephrosis ( Figure 1A ), as well as a hyperdense cardiac mass on the atrial septum, incompletely evaluated. T2-weighted images ( Figure 1B ) as well as an isointense signal on T1-weighted images. This also showed a dominant 7.4 cm intramural leiomyoma in the anterior myometrial wall with a physiologic left ovarian cyst and no other cystic solid adnexal lesions.
case_images: Histologic and immunohistochemical findings. (A) High magnification image (H&E, original magnification 400x) illustrating the tumor cells arranged in irregular nests surrounded by a fine capillary network, and showing moderate to abundant, eosinophilic cytoplasm, round to oval nuclei with finely granular ("salt and pepper") chromatin and inconspicuous to absent nucleoli. (B) The tumor cells (immunohistochemistry, original magnification 100x) show diffuse cytoplasmic expression of synaptophysin and chromogranin A and nuclear immunoreactivity for GATA-3, with negative keratin (AE1/AE3) stains.
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case_images: PMC11190172_01_fendo-15-1386285-g002.jpg
case_images: f2
case_images: Immunohistochemical stains showed strong diffuse immunoreactivity with synaptophysin, chromogranin, and GATA-3, with negative keratin (AE1/AE3) and p63 stains ( Figure 2 ).
case_images: SDHB-immunochemistry with matching histology. (A) (H&E, original magnification 100x): Tumor is composed of cells with abundant eosinophilic cytoplasm arranged in a variable sized nested pattern, with associated thin capillary network. (B) (SDHB immunostain, original magnification 100x): Immunohistochemistry testing shows loss of SDHB protein expression in tumor cells, with appropriately staining internal control (endothelial cells outlining the vascular spaces, and stromal cells).
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case_images: PMC11190172_01_fendo-15-1386285-g003.jpg
case_images: f3
case_images: SDHB immunohistochemistry testing showed loss of stain in the tumor cells, with appropriately staining internal controls, represented by the endothelial and stromal cells ( Figure 3 ).
case_images: Molecular findings. (A, B) Copy number plots showing chromosome (A) and band level (B) loss of entire short arm of chromosome 1 with deletion of SDHB. (C) IGV view of the mutation in the last nucleotide of the SDHB exon 6 (negatively oriented gene) at the splice site.
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case_images: PMC11190172_01_fendo-15-1386285-g004.jpg
case_images: f4
case_images: Tumor sequencing revealed a seemingly synonymous SDHB mutation (c.642G>A; p.Q214Q) with a deletion in the entire short arm of chromosome 1 spanning SDHB ( Figure 4 ) and no evidence of loss of heterozygosity for the MET VUS.