Crystal Dawn Chrysavgi Kamilaris*1, Pamela Ohri2 and Carl D Malchoff2
1University of Connecticut, Farmington, CT, 2UCONN Health, Farmington, CT

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Crystal Dawn Chrysavgi Kamilaris*1, Pamela Ohri2 and Carl D Malchoff2
1University of Connecticut, Farmington, CT, 2UCONN Health, Farmington, CT

Introduction: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth disorder characterized by a spectrum of clinical features including neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (Wilms tumor [WT], hepatoblastoma, neuroblastoma, rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly and carcinoma, renal abnormalities and ear creases/pits. Tumors occur primarily in the first 8 y of life. In > 80% of patients, molecular/cytogenetic testing detects one of the following alterations on chromosome 11p15.5 affecting imprinted genes in this region: loss of methylation of maternal imprinting center (IC) 2, gain of methylation of maternal IC1, paternal uniparental disomy (patUPD), mutation of CDKN1C, or rarely duplication, inversion or translocation of 11p15.5. We describe a case of bilateral pheochromocytomas in a patient with BWS caused by loss of methylation of maternal IC2.

Clinical Case: A 21 y woman with sporadic BWS with left hemihyperplasia presented at 4 y with metastatic WT treated with left partial nephrectomy, chemotherapy and radiation. Bilateral pheochromocytomas were diagnosed at 12 y and treated with bilateral adrenalectomy. Then, at 18 y she developed recurrent hypertension, headache, diaphoresis and palpitations. At 21 y she was found to have an elevated plasma normetanephrine level of 3.7 nmol/L (n < 0.90) with undetectable plasma metanephrine and negative MIBG scan and Octreoscan. MRI of the neck, chest, abdomen and pelvis showed a T2 hyperintense retroperitoneal mass in the upper aortocaval space. The patient underwent surgical resection of this 1.8 x 1.2 x 1.2 cm mass. Pathology showed a neuroendocrine neoplasm encroaching on a residual sympathetic ganglion and nerve with perineural invasion and focal vascular capsular invasion, and positive synaptophysin, S100 and chromogranin stains. The most likely diagnosis was metastatic pheochromocytoma, though other considerations included paraganglioma or seeding of pheochromocytoma during initial left adrenalectomy given that the patient had residual adrenal tissue evidenced by normal aldosterone levels. DNA analysis by Southern Blot demonstrated loss of methylation of maternal IC2 at 11p15.5. LIT1 DNA probe was used for this analysis with methylation index of 0.05 (n 0.4-0.58).

Discussion: Three cases of BWS and bilateral pheochromocytomas have been reported in the literature. These patients presented at age 20 y (Bemurat et al.), 6 y (Baldisserotto et al.) and 8 y (Wilson et al.). Only the 3rd case had epigenetically verified BWS due to patUPD.

Conclusions: In summary, we describe the development of bilateral pheochromocytomas with likely metastases in the setting of epigenetically confirmed BWS. We conclude that pheochromocytoma is a component of BWS caused by hypomethylation of maternal IC2 at 11p15.5.

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