Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.
Isolated hemihyperplasia, formerly termed isolated hemihypertrophy, is a congenital overgrowth disorder associated with an increased risk for embryonal tumors, mainly Wilms tumor and hepatoblastoma. This practice guideline will set forth the diagnostic criteria and tumor screening recommendations for children with isolated hemihyperplasia, based on the best information available. There is clinical overlap between isolated hemihyperplasia with Beckwith-Wiedemann syndrome. The majority of Beckwith-Wiedemann syndrome patients have a molecular abnormality involving the imprinted cluster of genes at 11p15.5. In contrast, the preponderance of isolated hemihyperplasia patients studied have no identified etiology. Tumors have developed in isolated hemihyperplasia patients with and without molecular abnormalities. For this reason, molecular diagnostics are not helpful in identifying the subset of isolated hemihyperplasia patients with tumor risk and all isolated hemihyperplasia patients should undergo tumor screening.
Department of Pediatrics, University of New Mexico Health Sciences Center, 1 University of New Mexico, Albuquerque, NM 87131-0001, USA. cleri@salud.unm.edu
Carol L
CL
Clericuzio
Rick A
RA
Martin
D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005820:Genetic Testing; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009369:Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D017410:Practice Guidelines as Topic; D024182:Uniparental Disomy; D000509:alpha-Fetoproteins / Q000032:analysis
C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated; D000509:alpha-Fetoproteins