The patient was a 21-year-old female with past history of stage 3 ACT diagnosed at 4.9 years. Her development was normal except for an incidental note per the family of longer and larger right upper and lower extremities throughout her life that had not been specifically investigated as far as the patient and her family were aware, but was associated with chronic left-leaning posture and asymmetric shoe size. She had been in her usual state of good health until the age 4 years when she complained of abdominal pain. She also had weight loss, increased headaches, decreased activity and energy, increased tiredness, and sweating. Given the persistence of symptoms, she was examined by a physician who palpated an abdominal mass and noted hypertension and slight androgen elevations. Magnetic resonance imaging showed a large abdominal mass in the right adrenal gland, with direct extension into the inferior vena cava and nearly completely filling of the right atrium. She underwent a partial sternotomy, and extraction of the caval portion of the adrenal tumor and resection of the right retroperitoneal tumor. The tumor weight was 550 g and measured 13.5 × 10.5 × 6.0 cm. The pathology confirmed ACC (low Ki-67 LI, rare mitotic figures and negative for inhibin-α). There were large areas of necrosis, and vascular invasion with tumor penetration through the capsule. Immunohistochemistry analysis was negative for p53 and positive for beta-catenin. She was treated with the combination of cisplatin, doxorubicin, etoposide, and mitotane. Features of right-sided lateral overgrowth, including right-sided tongue enlargement as well as increased right vs. left arm circumferences (51 cm vs 50 cm), calf circumferences (39 cm vs 37 cm), and a slight leg length discrepancy (88 cm vs 85 cm) were first noted during exams performed at St. Jude as part of a multidisciplinary rare endocrine tumor clinic when she was 18 years old, and led to additional testing subsequently confirming chromosome 11p15 UPD. She has been alive and tumor free for 17 years.\nMolecular findings: Blood DNA of this patient was analyzed by whole exome sequencing (WES). No reportable structural, single nucleotide variants, and indel or copy number changes were identified in APC, CDKN1C, MEN1, PRKAR1A, and TP53. Chromosome paternal 11p15 UPD 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.