Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia

Jet Bliek; Saskia Maas; Mariel Alders; Johannes H M Merks; Marcel Mannens

doi:10.1016/j.jpeds.2007.12.022

Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia

Jet Bliek, Saskia Maas, Mariel Alders, Johannes H M Merks, Marcel Mannens

Research output: Contribution to journal › Article › peer-review

30 Citations (Scopus)

Abstract

OBJECTIVE: To investigate whether epigenotyping of patients with isolated hemihyperplasia (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of tumor risk and tumor type of individual patients.

STUDY DESIGN: Methylation analysis of H19 and KCNQ1OT1 of 73 patients. Questionnaires were sent to referring clinicians.

RESULTS: In 75% of the clinically confirmed patients with IH no epigenetic defect was detected. Paternal uniparental disomy was found in 15%, demethylation of KCNQ1OT1 in only 6%, and hypermethylation of H19 in 3% of isolated hemihyperplasia cases. Ten percent of the patients with IH had development of a childhood tumor associated with paternal uniparental disomy (2/8) or no methylation defect (2/30). No genetic defect was detected in 10 of 14 additional patients with cancer with IH. In these latter patients, a methylation defect of H19 was seen 3 times and a paternal uniparental disomy once. The female-to-male ratio was 6:1.

CONCLUSIONS: Aberrant methylation of the 11p15 region is not common in patients with IH and can at present not be used for tumor risk determination.

Original language	English
Pages (from-to)	95-100
Number of pages	6
Journal	The Journal of Pediatrics
Volume	153
Issue number	1
DOIs	https://doi.org/10.1016/j.jpeds.2007.12.022
Publication status	Published - Mar 2008
Externally published	Yes

Keywords

Beckwith-Wiedemann Syndrome/complications
Child
Child, Preschool
DNA Methylation
Epigenesis, Genetic
Female
Genotype
Humans
Infant
Male
Models, Genetic
Neoplasms/complications
Phenotype
Risk Factors
Uniparental Disomy

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title = "Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia",

abstract = "OBJECTIVE: To investigate whether epigenotyping of patients with isolated hemihyperplasia (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of tumor risk and tumor type of individual patients.STUDY DESIGN: Methylation analysis of H19 and KCNQ1OT1 of 73 patients. Questionnaires were sent to referring clinicians.RESULTS: In 75% of the clinically confirmed patients with IH no epigenetic defect was detected. Paternal uniparental disomy was found in 15%, demethylation of KCNQ1OT1 in only 6%, and hypermethylation of H19 in 3% of isolated hemihyperplasia cases. Ten percent of the patients with IH had development of a childhood tumor associated with paternal uniparental disomy (2/8) or no methylation defect (2/30). No genetic defect was detected in 10 of 14 additional patients with cancer with IH. In these latter patients, a methylation defect of H19 was seen 3 times and a paternal uniparental disomy once. The female-to-male ratio was 6:1.CONCLUSIONS: Aberrant methylation of the 11p15 region is not common in patients with IH and can at present not be used for tumor risk determination.",

keywords = "Beckwith-Wiedemann Syndrome/complications, Child, Child, Preschool, DNA Methylation, Epigenesis, Genetic, Female, Genotype, Humans, Infant, Male, Models, Genetic, Neoplasms/complications, Phenotype, Risk Factors, Uniparental Disomy",

author = "Jet Bliek and Saskia Maas and Mariel Alders and Merks, {Johannes H M} and Marcel Mannens",

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T1 - Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia

AU - Bliek, Jet

AU - Maas, Saskia

AU - Alders, Mariel

AU - Merks, Johannes H M

AU - Mannens, Marcel

PY - 2008/3

Y1 - 2008/3

N2 - OBJECTIVE: To investigate whether epigenotyping of patients with isolated hemihyperplasia (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of tumor risk and tumor type of individual patients.STUDY DESIGN: Methylation analysis of H19 and KCNQ1OT1 of 73 patients. Questionnaires were sent to referring clinicians.RESULTS: In 75% of the clinically confirmed patients with IH no epigenetic defect was detected. Paternal uniparental disomy was found in 15%, demethylation of KCNQ1OT1 in only 6%, and hypermethylation of H19 in 3% of isolated hemihyperplasia cases. Ten percent of the patients with IH had development of a childhood tumor associated with paternal uniparental disomy (2/8) or no methylation defect (2/30). No genetic defect was detected in 10 of 14 additional patients with cancer with IH. In these latter patients, a methylation defect of H19 was seen 3 times and a paternal uniparental disomy once. The female-to-male ratio was 6:1.CONCLUSIONS: Aberrant methylation of the 11p15 region is not common in patients with IH and can at present not be used for tumor risk determination.

AB - OBJECTIVE: To investigate whether epigenotyping of patients with isolated hemihyperplasia (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of tumor risk and tumor type of individual patients.STUDY DESIGN: Methylation analysis of H19 and KCNQ1OT1 of 73 patients. Questionnaires were sent to referring clinicians.RESULTS: In 75% of the clinically confirmed patients with IH no epigenetic defect was detected. Paternal uniparental disomy was found in 15%, demethylation of KCNQ1OT1 in only 6%, and hypermethylation of H19 in 3% of isolated hemihyperplasia cases. Ten percent of the patients with IH had development of a childhood tumor associated with paternal uniparental disomy (2/8) or no methylation defect (2/30). No genetic defect was detected in 10 of 14 additional patients with cancer with IH. In these latter patients, a methylation defect of H19 was seen 3 times and a paternal uniparental disomy once. The female-to-male ratio was 6:1.CONCLUSIONS: Aberrant methylation of the 11p15 region is not common in patients with IH and can at present not be used for tumor risk determination.

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KW - Child

KW - Child, Preschool

KW - DNA Methylation

KW - Epigenesis, Genetic

KW - Female

KW - Genotype

KW - Humans

KW - Infant

KW - Male

KW - Models, Genetic

KW - Neoplasms/complications

KW - Phenotype

KW - Risk Factors

KW - Uniparental Disomy

U2 - 10.1016/j.jpeds.2007.12.022

DO - 10.1016/j.jpeds.2007.12.022

M3 - Article

C2 - 18571544

SN - 0022-3476

VL - 153

SP - 95

EP - 100

JO - The Journal of Pediatrics

JF - The Journal of Pediatrics

IS - 1

ER -

Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia

Abstract

Keywords

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