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Management of adrenal masses in patients with Beckwith–Wiedemann syndrome
Author(s) -
MacFarland Suzanne P.,
MostoufiMoab Sogol,
Zelley Kristin,
Mattei Peter A.,
States Lisa J.,
Bhatti Tricia R.,
Duffy Kelly A.,
Brodeur Garrett M.,
Kalish Jennifer M.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26432
Subject(s) - beckwith–wiedemann syndrome , medicine , congenital adrenal hyperplasia , hyperplasia , adrenal gland , adrenal disorder , pathology , genetic predisposition , gene , genetics , gene expression , disease , dna methylation , obesity , insulin resistance , glucose homeostasis , biology
Beckwith–Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of adrenal findings in BWS patients. The altered expression of the 11p15 region is likely related to adrenal gland hyperplasia and growth dysregulation. Given the absence of guidelines for managing adrenal findings in BWS, we propose a systematic approach to adrenal findings in BWS patients, to allow for maximum detection of potentially malignant pathology without posing additional risk to patients.