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Updated: Mar 15, 2026

Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients
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Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Published on: June 16, 2017

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Assessment of Promoter Methylation Identifies PTCH as a Putative Tumor-suppressor Gene in Human CLL

Ingo G H Schmidt-Wolf1, Christoph Plass2, John C Byrd2

  • 1Center for Integrated Oncology (CIO), Department of Internal Medicine III, University Hospital, Bonn, Germany ingo.schmidt-wolf@ukb.uni-bonn.de.

Anticancer Research
|September 16, 2016
PubMed
Abstract

Insights

Epigenetic silencing of the Patched (PTCH) tumor-suppressor gene through methylation is a mechanism contributing to chronic lymphocytic leukemia (CLL) tumorigenesis. This finding was observed in 46% of CLL patients but not in healthy individuals.

Area of Science:

  • Oncology
  • Epigenetics
  • Molecular Biology

Background:

  • Chronic lymphocytic leukemia (CLL) is a hematologic malignancy characterized by the accumulation of neoplastic lymphocytes.
  • The pathogenesis of CLL involves disruptions in key cellular processes, including apoptosis.
  • Understanding the molecular mechanisms underlying CLL is crucial for developing targeted therapies.

Purpose of the Study:

  • To identify novel genes silenced by CpG island methylation in patients with CLL.
  • To investigate the role of epigenetic alterations in CLL development.
  • To explore potential therapeutic targets for CLL.

Main Methods:

  • Differential methylation hybridization analysis was employed to screen for methylated genes in CLL.
  • Pyrosequencing was used to confirm de novo methylation of specific CpG island regions.
  • Analysis included peripheral blood mononuclear cells from CLL patients and healthy individuals.

Main Results:

  • The tumor-suppressor gene Patched (PTCH) was found to be frequently methylated in CLL samples.
  • De novo methylation upstream of PTCH exon 1 was confirmed in 46% of CLL patients.
  • No association was observed between PTCH hypermethylation and established prognostic factors for CLL.

Conclusions:

  • Epigenetic silencing of PTCH via methylation is a contributing mechanism to CLL tumorigenesis.
  • PTCH methylation represents a potential biomarker or therapeutic target in CLL.
  • Further research is warranted to elucidate the full impact of PTCH alterations in CLL.
Keywords:
Chronic lymphocytic leukemiaPTCHhedgehog pathwaymethylation

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