The patient was an 8.4-year-old girl diagnosed with stage II ACC at age 7 months. In 2013, she went to the local pediatric endocrinologist as she had Cushing syndrome. Her medical history revealed that she was a full-term infant with a birth weight of 6lb 12 oz (~3kg). She did not have umbilical hernia, omphalocele, macroglossia, nevus flammeus or lateralized overgrowth. An ultrasound imaging study revealed an abdominal mass in the adrenal gland region. The mass, which measured 8.2 × 7.5 × 4.5 cm was completely resected and the diagnosis of ACC confirmed. Tumor was positive for vimentin and melan-A and inhibin-α was moderate in occasional tumor cells. The Ki-67 LI was 30%. The patient was not treated with chemotherapy and has remained disease-free.\nMolecular findings: Blood and tumor samples were available for molecular studies. No TP53 variants were observed in the germline or tumor (). The tumor harbored the p.S45P missense variant in CTNNB1 and was wild type for ATRX. Whole genome SNP microarray (Reveal; Integrated Genetics) analysis of germline DNA revealed normal chromosome copy number but 50% mosaicism for chromosome 11p covering a 45.6 Mb region. A pattern consistent with mosaic paternal UPD was confirmed by MS-MLPA.
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.