The patient was a 23-year-old female who had hypertension during a routine medical visit in 2009 at age 11 years. Examination for causes of hypertension revealed a large, and well-defined mass in the left upper quadrant above the left kidney and deep to the spleen. The mass was approximately 8.7 × 9.7 × 9.7 cm and was relatively round. The kidneys and liver were normal in appearance. There was no regional adenopathy. Laboratory investigation showed remarkably elevated levels of deoxycorticosterone, aldosterone, and dehydroepiandrosterone. The mass was removed one month later, and weighed 388 g and measured 11 × 10 × 6 cm. There was a 3 × 3 cm defect on the surface suggestive of tumor rupture. The tumor was composed of nests of moderate-sized cells with round nuclei, prominent nucleoli, and moderate to abundant foamy to amphophilic non-foamy cytoplasm. There was only one mitosis per ten 400× fields and there was no atypical mitosis. However, the tumor demonstrated prominent venous invasion, necrosis, and extracapsular extension. Calcifications were noted. Immunohistochemical stains were positive for melan-A, vimentin, and cytokeratin (focal). Epithelial membrane antigen, chromogranin, and inhibin-α were negative. Ki-67 LI was <5%. Occasional areas of the tumor showed moderate nuclear staining for p53. The patient was referred to St. Jude for treatment. At that time, her adrenal hormones had returned to normal levels. She underwent comprehensive imaging studies, including FDG-PET scans. There was no evidence of residual disease. The recommendation was observation. She remains disease free 12 years from diagnosis.\nMolecular findings: Blood and tumor DNA of this patient was analyzed by whole genome sequencing (WGS) (). The patient had a wild type sequence for TP53 in both germline and tumor DNA (, ). ACT was wild type for ATRX and acquired the p.G34E variant in CTNNB1 and p.R201H in GNAS (). In addition, the patient harbored the germline p.R307* variant in the PDE11A (). WES analysis of blood-derived DNA was not sufficiently sensitive to detect chromosome 11p15 UPD, but MS-MLPA revealed a mosaic pattern of paternal 11p15 UPD.
Patient was a 2.4-year-old male with a past medical history consistent with BWS (hemihypertrophy) who had an abdominal mass in the left adrenal gland during surveillance for abdominal tumors. In addition, a hepatic mass was noted. The patient underwent laparotomy with resection of the left adrenal gland and partial hepatectomy. The adrenal tumor weighed 56 g and measured 5.9 × 5.9 × 3.6 cm. The liver lesion weighed 73 g and measured 6.5 × 4.5 × 4.0 cm. Tumors in adrenal gland and liver were histologically identical. The immune profile of both tumors was positive for pan keratin, vimentin, synaptophysin, melan-A, and was negative for inhibin-α, chromogranin, and alpha-feto protein, anti-endomysial antibody (EMA), and calretinin. Liver and adrenal masses were also negative for p53, and Ki-67 LI was <5% in both tumors. There was vascular invasion in the adrenal tumor. Peri-aortic lymph nodes were negative. Tumor margins were free of tumor. The patient was not treated with chemotherapy and remains free of disease 11 years after the diagnosis of adrenocortical carcinoma (ACC).\nMolecular findings: Molecular studies were done for the germline sample and the patient was wild type for TP53. Microsatellite analysis covering the position 1,061,991 to 4,539,851 at chromosome 11p15 (GRCh37/hg19) revealed a heterozygous pattern for all studied markers but MS-MLPA revealed a pattern consistent with mosaic paternal UPD.