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Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study

Xiaoyan Liao1,2, Yansheng Hao1, Xiaofei Zhang1

  • 1Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

Plos One
|February 8, 2019
PubMed

Insights

SMAD4 gene mutations in colorectal cancer are linked to higher tumor stage and mucinous differentiation. These findings clarify the prognostic significance of SMAD4 mutations in intestinal adenocarcinomas.

Area of Science:

  • Oncology
  • Genetics
  • Gastroenterology

Background:

  • The SMAD4 tumor suppressor gene regulates transforming growth factor-β signaling.
  • SMAD4 mutations occur in approximately 10% of colorectal carcinomas, but their prognostic impact remains debated.
  • Understanding SMAD4 mutation characteristics is crucial for colorectal cancer prognosis.

Purpose of the Study:

  • To investigate the clinicopathological features of SMAD4-mutated intestinal adenocarcinomas.
  • To compare SMAD4-mutated tumors with SMAD4 wild-type tumors to identify distinct characteristics.
  • To explore the correlation between SMAD4 mutation sites and tumor morphology.

Main Methods:

  • Retrospective case-control study of 443 primary adenocarcinomas.
  • Next-generation DNA sequencing (NGS) using the Ion AmpliSeq Cancer Hotspot Panel v2.
  • Matching of 28 SMAD4-mutated (SMAD4m) patients with 56 SMAD4 wild-type (SMAD4wt) controls.

Main Results:

  • SMAD4m tumors exhibited higher pathological stage (P = 0.026).
  • SMAD4m tumors were more frequently associated with mucinous differentiation (P = 0.0000), Crohn's disease (P = 0.0041), and concurrent RAS mutations (P = 0.0178).
  • Tumor mucin content correlated with mutations in the SMAD4 protein's MH2 domain (P = 0.0338).

Conclusions:

  • SMAD4 mutations are associated with specific pathological and clinical features in colorectal adenocarcinomas.
  • These findings contribute to clarifying the prognostic significance of SMAD4 mutations.
  • Demonstrated a direct link between SMAD4 mutation sites and distinct histological features within tumors.

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