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.
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.