Patient was a 28-year-old healthy female diagnosed with non-functional metastatic ACT at age 15 months. She did not have an antecedent of endocrine manifestations, and the tumor was discovered during the one-year routine visit to the pediatrician. She did not have a history of growth and developmental abnormalities. CT imaging of the abdomen and chest revealed a left supra-renal mass measuring 5 cm in the largest diameter and bilateral pulmonary nodules (Stage IV). She underwent resection of the primary tumor that measured 7.0 × 6.0 × 4.0 cm and weighed 130 g. The histopathological examination confirmed the diagnosis of ACC. She was transferred to St. Jude and treated with cisplatin, etoposide and mitotane. However, after four courses of chemotherapy, several pulmonary lesions remained. She underwent resection of the bilateral pulmonary metastatic nodules, and most of them showed viable metastatic tumor by histology. Chemotherapy was stopped and the patient was monitored for tumor progression. The pulmonary lesions regressed and remained very small for over 10 years. She continues to be free of disease and in good health to date, 26.5 years after the diagnosis.\nMolecular findings: No TP53 variants were observed in blood and tumor samples (). In addition, the primary tumor was negative for CTNNB1 and ATRX. Furthermore, microsatellite analysis of germline DNA revealed a pattern of homozygosity consistent with paternal UPD that was confirmed by MS-MLPA.
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.