PMC7249266_01
Patient pedigree [proband positive for MAX mutation c299G>C (p.Arg100Pro, NM_00.42382)]. She presented clinical signs of multiple PGL and composite PCCs; proband's father had a glioblastoma multiforme, and genetic testing was not performed; proband's son is negative for clinical manifestations, and genetic analyses were not performed.
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F1
The trend of NE markers over the course of the clinical history is shown in Figure S1.
Timing of the presentation of multiple and composite NEN-neural tumors in this patient. GNB, ganglioneuroblastoma; CHT, chemotherapy; RT, radiotherapy; PCC, pheochromocytoma; GN, ganglioneuroma; PGL, paraganglioma.
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F2
PMC7249266_02
Patient pedigree [proband positive for MAX mutation c299G>C (p.Arg100Pro, NM_00.42382)]. She presented clinical signs of multiple PGL and composite PCCs; proband's father had a glioblastoma multiforme, and genetic testing was not performed; proband's son is negative for clinical manifestations, and genetic analyses were not performed.
fendo-11-00234-g0001.jpg
PMC7249266_02_fendo-11-00234-g0001.jpg
F1
The trend of NE markers over the course of the clinical history is shown in Figure S1.
Top: 131I-metaiodobenzylguanidine (MIBG) scintigraphy distinctly shows a hot spot in the inter-aortocaval region, as seen in the (A) transverse, (B) sagittal, and (C) coronal scans. Bottom: Histological appearance of the paraganglioma, cords and nests of cellular elements with abundant granular basophilic cytoplasm and ovoid nuclei with prominent nucleoli. (D) EE 10x. (E) EE 20x.
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F3
MIBG scintigraphy showed a distinct hot spot in that region (Figure 3). The histological diagnosis was inter-aortocaval PGL (see Figure 3).
Adrenal CT scan. The two slices (A,B) show four nodules in the left adrenal gland measuring from 10 to 18 mm that are unattenuated after contrast administration (red arrows), compatible with left multifocal adrenal pheochromocytomas.
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F4
Adrenal washout CT scans showed four non-adenomatous left adrenal masses between 10 and 18 mm (Figure 4).