case_images: PMC11315972_01
case_images: (a) Pulmonary metastasis on CT, June 2020. (b) New foci of pulmonary metastasis on CT, April 2021. (c) Liver metastasis on CT, December 2021, approximate size of 3.9 x 2.2 cm (red arrow). Left adrenal nodule (blue arrow). (d) New foci of pulmonary metastasis on CT, December 2021.
case_images: CRIE2024-6664694.001.jpg
case_images: PMC11315972_01_CRIE2024-6664694.001.jpg
case_images: fig1
case_images: During follow-up, the disease progressed (Figure 1) with new surgical approaches for the resection of abdominal and pulmonary nodules. A heterozygous pathogenic variant (PV) of the SDHB gene in exon 6 (chr1:17350519) was identified and validated using Sanger sequencing (Supplementary Figure 1).
case_images: On the red arrow, a focal lesion in the left adrenal gland with well-defined limits and 8 HU density in December 2021. Approximate size of 7.9 x 6.7 cm.
case_images: CRIE2024-6664694.002.jpg
case_images: PMC11315972_01_CRIE2024-6664694.002.jpg
case_images: fig2
case_images: After 8 months, the tumor had grown to 5 cm, and maintained a regular appearance, without invasive features (Figure 2). SDHB protein and mutated SDHB protein (Supplementary Figure 2). SDHB protein sequence was obtained at UniProt and used to build protein model of both the wild-type and predicted pathogenic mutated protein.
case_images: (a) Retroperitoneal nodule resection (2016): Immunohistochemistry shows strong positivity for calretinin and chromogranin, and negativity for inhibin-A and melan-A. (b) Pulmonary metastasectomy (2021): Immunohistochemistry shows strong positivity for enolase, negativity for CD10 and PAX 8, and weak positivity for Ki67 (3%). These results support the diagnosis of a neuroendocrine tumor as opposed to a cortical or renal tumor.
case_images: CRIE2024-6664694.003.jpg
case_images: PMC11315972_01_CRIE2024-6664694.003.jpg
case_images: fig3
case_images: From a histological perspective, the tumor changed characteristics over the years but maintained the findings of little cellular atypia, rare mitotic figures, and absence of angiolymphatic invasion (Supplementary Figure 3). However, in immunohistology, features of neuroendocrine tumors predominated, and the hypothesis of PHEO/PGL was primarily considered (Figures 3(a) and 3(b)).
case_images: Overexpression of the radiopharmaceutical (NOTANOC-18F) in a pulmonary (red arrow) and hepatic nodule (blue arrow).
case_images: CRIE2024-6664694.004.jpg
case_images: PMC11315972_01_CRIE2024-6664694.004.jpg
case_images: fig4
case_images: The patient underwent [18F]-NOTANOC positron emission tomography and computed tomography scan (NOTANOC-18 F PET/CT) in April 2023, which showed hyperexpression of somatostatin receptors in the pulmonary nodules, hepatic nodules, and pericardiac and epiphrenic chain lymph nodes on the right (Figure 4).
case_images: Timeline of the main treatments instituted between 2014 and 2023. The red arrows show the major image findings.
case_images: CRIE2024-6664694.005.jpg
case_images: PMC11315972_01_CRIE2024-6664694.005.jpg
case_images: fig5
case_images: We present a timeline of the main treatments instituted between 2014 and 2023 in Figure 5.