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Array comparative genomic hybridization identifies high level of PI3K/Akt/mTOR pathway alterations in anal cancer

Wulfran Cacheux1,2, Petros Tsantoulis3, Adrien Briaux2

  • 1Département d'oncologie médicale, Institut Curie, Ensemble hospitalier, Hôpital René Huguenin, Saint-Cloud, France.

Cancer Medicine
|May 28, 2018
PubMed

Insights

Genomic alterations in anal squamous cell carcinoma (ASCC) are poorly understood. This study identified key genomic regions and pathways, particularly the PI3K/Akt/mTOR pathway, which is crucial for understanding ASCC recurrence and survival.

Area of Science:

  • Oncology
  • Genomics
  • Cancer Research

Background:

  • Anal squamous cell carcinoma (ASCC) is a rare malignancy with poorly understood genomic underpinnings.
  • Limited research exists on the specific genetic alterations driving ASCC development and progression.

Purpose of the Study:

  • To comprehensively characterize the genomic landscape of ASCC.
  • To identify frequently altered genes and pathways involved in ASCC.
  • To investigate the correlation between genomic alterations and clinical outcomes, including recurrence and overall survival.

Main Methods:

  • Array comparative genomic hybridization (aCGH) and targeted gene sequencing were employed.
  • Analysis was performed on 49 cases of ASCC.
  • Genomic data were integrated to identify significantly altered regions and pathways.

Main Results:

  • Frequent deletions were observed in regions including 11q22.3 (ATM), and gains in 3q26.32 (PIK3CA).
  • Recurrent homozygous deletions (e.g., TGFR2) and focal amplifications (e.g., DDR2, CCND1) were identified.
  • The PI3K/Akt/mTOR signaling pathway was significantly enriched, especially in recurrent tumors (64% vs. 30%).
  • A higher number of genomic alterations correlated with poor overall survival in recurrent ASCC patients.

Conclusions:

  • Somatic genomic alterations in ASCC involve specific deleted and gained regions, with ATM and PIK3CA being frequently affected.
  • The PI3K/Akt/mTOR pathway plays a critical role in ASCC pathogenesis and recurrence.
  • Genomic profiling can provide insights into ASCC prognosis and identify potential therapeutic targets.
Keywords:
PI3K/Akt/mTOR signaling pathwayanal squamous cell carcinomaarray comparative genomic hybridizationcopy number alterationssomatic mutations

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