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Updated: Feb 14, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

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Immunohistochemically detected IDH1R132H mutation is rare and mostly heterogeneous in prostate cancer

Andrea Hinsch1, Meta Brolund1, Claudia Hube-Magg1

  • 1Institute of Pathology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.

World Journal of Urology
|February 11, 2018
PubMed
Abstract

Insights

Isocitrate Dehydrogenase 1 (IDH1) mutations occur in 0.3% of prostate cancers and are often heterogeneous. This high heterogeneity may limit the effectiveness of targeted IDH1 therapies for prostate cancer patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Isocitrate Dehydrogenase 1 (IDH1) mutations are oncogenic, driving DNA damage and genome instability.
  • IDH1 mutations are therapeutically relevant due to increased sensitivity to radiation and cytotoxic therapies, and potential for vaccination therapy.

Purpose of the Study:

  • To investigate the prevalence and characteristics of IDH1 mutations in a large cohort of primary prostate cancer tissues.
  • To assess the potential for targeted IDH1 therapies in prostate cancer.

Main Methods:

  • Analysis of over 17,000 primary prostate cancer tissues using a mutation-specific antibody for IDH1R132H.
  • Evaluation of associations between IDH1 mutation status and clinicopathological features.
  • Assessment of molecular tumor features and mutation heterogeneity.

Main Results:

  • IDH1R132H mutation was identified in 0.3% of prostate cancers.
  • IDH1 mutation correlated with higher preoperative prostate-specific antigen (PSA) and Gleason grade.
  • IDH1-mutated cancers showed reduced frequency of TMPRSS2-ERG fusion and specific genomic deletions (PTEN, 5q21, 6q15, 3p13).
  • High heterogeneity of IDH1 mutations was observed in most cases, limiting therapeutic targeting.

Conclusions:

  • Approximately 0.3% of prostate cancers harbor the IDH1R132H mutation, predominantly with heterogeneous characteristics.
  • The significant heterogeneity of IDH1 mutations in prostate cancer may restrict the clinical benefit for patients receiving specific anti-IDH1 therapies.
Keywords:
DeletionERGIDH1Prostate cancerTMA

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