Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link?

Authors

  • Tiffany Caza State University of New York, Upstate Medical University, United States
  • Jared Manwaring Department of Urology, SUNY Upstate Medical University
  • Jonathan Riddell Department of Urology, SUNY Upstate Medical University

DOI:

https://doi.org/10.5489/cuaj.4297

Abstract

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder at chromosome 11p15 that leads to increased activity of insulin-like growth factor-2 (IGF2) and reduced activity, with no active copy of the inhibitor of cell proliferation, CDKN1C, resulting in excessive growth and increased risk of tumour formation. Isolated cases of patients with Beckwith-Wiedemann syndrome and pheochromocytoma are reported in the literature; however, none have described a molecular or cytogenetic evaluation for associated genetic abnormalities.

We present a case of an adolescent female with Beckwith-Wiedemann syndrome who developed recurrent, bilateral, and metastatic pheochromocytoma despite low-risk histopathology. Genotyping studies, which evaluated for genetic predisposition to pheochromocytoma or paraganglioma (PHEO/PGL), including the PGLNext sequencing panel of 12 associated genes, and a whole genome comparative genome hybridization microarray, were performed. Genomic studies were unexpectedly negative. Additionally, the histopathology of the PHEO/PGL of our patient had low-risk features, which is unusual in cases of metastases, occurring in less than 4% of cases.1 This case suggests that the BWS in itself could predispose to formation of a PHEO/PGL phenotype with aggressive behaviour. The following manuscript summarizes the case report, reviews pertinent literature, and proposes a possible mechanism for this association.

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Author Biographies

Tiffany Caza, State University of New York, Upstate Medical University, United States

Resident, Department of Pathology, PGY3

Jared Manwaring, Department of Urology, SUNY Upstate Medical University

Department of Urology, resident physician, PGY5

Jonathan Riddell, Department of Urology, SUNY Upstate Medical University

Department of Urology, Assistant Professor

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Published

2017-05-09

How to Cite

Caza, T., Manwaring, J., & Riddell, J. (2017). Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link?. Canadian Urological Association Journal, 11(5), E240–3. https://doi.org/10.5489/cuaj.4297

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Residents' Room