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Genetic alteration in notch pathway is associated with better prognosis in renal cell carcinoma

Chenchen Feng1, Zuquan Xiong1, Haowen Jiang1

  • 1Department of Urology, Huashan Hospital, Fudan University, Shanghai, 200040, People's Republic of China.

Biofactors (Oxford, England)
|December 15, 2015
PubMed

Insights

Notch signaling alterations are common in clear-cell renal cell carcinoma (ccRCC), affecting nearly half of patients. These genetic changes, particularly copy number variations in MAML1 and KAT2B, were linked to longer patient survival.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Notch signaling is implicated in various cancers.
  • Its role in clear-cell renal cell carcinoma (ccRCC) remains understudied.
  • Genetic alterations in Notch pathway genes are not comprehensively characterized in ccRCC.

Purpose of the Study:

  • To investigate the frequency and types of genetic alterations in the Notch gene set in ccRCC.
  • To explore the association between Notch pathway alterations and patient survival outcomes.
  • To identify specific Notch pathway genes frequently altered in ccRCC.

Main Methods:

  • Utilized the Cancer Genome Atlas (TCGA) Kidney Renal Clear Cell Carcinoma (KIRC) database.
  • Analyzed genetic alterations including mutations and copy number variations (CNVs) in the Notch gene set.
  • Correlated Notch pathway alterations with overall survival and disease-free survival data.

Main Results:

  • The Notch gene set was genetically altered in 44% of 415 ccRCC patients.
  • Copy number variation (CNV) was the predominant alteration type.
  • Specific alterations included KAT2B (13%) and MAML1 (19%), both functionally active in ccRCC.
  • VHL deletion was exclusively observed in patients with Notch alterations.
  • Patients with Notch pathway alterations exhibited longer overall survival (median 90.41 months vs. 69.15 months).

Conclusions:

  • Notch signaling is frequently altered in nearly half of ccRCC cases.
  • Copy number variations in MAML1 and KAT2B are predominant genetic changes.
  • Altered Notch signaling is associated with improved overall survival in ccRCC patients.
  • These findings enhance the understanding of Notch pathway's role in ccRCC pathogenesis and prognosis.
Keywords:
KAT2BMAML1NOTCHclear cell renal cell carcinoma

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