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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
Carol L Clericuzio1, Rick A Martin
1Department of Pediatrics, University of New Mexico Health Sciences Center, 1 University of New Mexico, Albuquerque, NM 87131-0001, USA. cleri@salud.unm.edu
Insights
Isolated hemihyperplasia is a congenital overgrowth linked to higher risks of childhood cancers like Wilms tumor. All children with this condition require tumor screening, regardless of molecular findings.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Developmental Biology
Background:
- Isolated hemihyperplasia (IHH) is a congenital overgrowth disorder.
- It is associated with an increased risk of embryonal tumors, primarily Wilms tumor and hepatoblastoma.
- Clinical presentation of IHH can overlap with Beckwith-Wiedemann syndrome.
Purpose of the Study:
- To establish diagnostic criteria for IHH.
- To provide tumor screening recommendations for children diagnosed with IHH.
- To clarify the role of molecular diagnostics in risk stratification for IHH patients.
Main Methods:
- Review of existing literature and clinical data on IHH.
- Analysis of diagnostic criteria and tumor surveillance protocols.
- Evaluation of molecular findings in IHH and related syndromes.
Main Results:
- Diagnostic criteria for IHH are outlined.
- Tumor screening is recommended for all children with IHH.
- Molecular diagnostics at 11p15.5 are not definitive for identifying tumor risk in IHH.
Conclusions:
- All patients with isolated hemihyperplasia require comprehensive tumor screening.
- Molecular testing does not reliably predict tumor risk in IHH.
- Consistent diagnostic and screening guidelines are crucial for managing IHH.
Abstract:
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.