How to cite this article: Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. 2009. Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol. Am J Med Genet Part A 149A:1691–1697.
Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol†
Article first published online: 16 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1691–1697, August 2009
How to Cite
Zarate, Y. A., Mena, R., Martin, L. J., Steele, P., Tinkle, B. T. and Hopkin, R. J. (2009), Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol. Am. J. Med. Genet., 149A: 1691–1697. doi: 10.1002/ajmg.a.32966
- Issue published online: 23 JUL 2009
- Article first published online: 16 JUL 2009
- Manuscript Accepted: 7 MAY 2009
- Manuscript Received: 13 NOV 2008
- Beckwith–Wiedemann syndrome;
- alpha fetoprotein;
Beckwith–Wiedemann syndrome (BWS) and isolated hemihyperplasia (IHH) are two well known overgrowth conditions that are associated with cancer predisposition. Multiple surveillance protocols have been proposed to detect the most commonly reported tumor types Wilms tumor and hepatoblastoma. We reviewed the history of our patients who were part of this monitoring protocol. Information from 63 cases was collected retrospectively while another 63 control samples for AFP measurement were obtained prospectively. Twenty-five (40%) patients had an ultrasound abnormality, the most frequent being nephromegaly/size discrepancy. Two patients had well documented cases of tumors/tumor precursor (2/63:3.2%) detected by ultrasound images. Three hundred thirty-six separate AFP values were available with values above 50,000 ng/ml seen in three patients older than 2 months, one with hepatoblastoma and two other with hemangiomas/hemangioendotheliomas. There was no clear difference in the range of AFP values between previously reported controls, our own normal population and affected patients. In conclusion, ultrasound surveillance detected renal and liver pathology including benign and malignant lesions. The known variability of AFP in normal neonates and patients with BWS makes interpretation difficult in early infancy. Very high AFP values did seem to be correlated with risk for identifiable liver lesions. Determination of the natural changes in AFP levels over time will allow more appropriate comparison. © 2009 Wiley-Liss, Inc.