A transforming growth factor β1 receptor type II mutation in ulcerative colitis-associated neoplasms

R. F. Souza, J. Lei, J. Yin, R. Appel, T. T. Zou, X. Zhou, S. Wang, G. Rhyu, K. Cymes, O. Chan, W. S. Park, M. J. Krasna, B. D. Greenwald, J. Cottrell, J. M. Abraham, L. Simms, B. Leggett, J. Young, N. Harpaz, S. J. Meltzer

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78 Scopus citations


Background and Aims: Numerous gastrointestinal tumors, notably sporadic and ulcerative colitis (UC)-associated colorectal carcinomas and dysplasias, gastric cancers, and esophageal carcinomas, manifest microsatellite instability. Recently, a transforming growth factor β1 type II receptor (TGF-β1RII) mutation in a coding microsatellite was described in colorectal carcinomas showing instability. One hundred thirty-eight human neoplasms (61 UC-associated, 35 gastric, 26 esophageal, and 16 sporadic colorectal) were evaluated for this TGF-β1RII mutation. Methods: Whether instability was present at other chromosomal loci in these lesions was determined. In lesions manifesting or lacking instability, the TGF-β1RII coding region polydeoxyadenine (poly A) microsatellite tract was polymerase chain reaction amplified with 32P-labeled deoxycytidine triphosphate. Polymerase chain reaction products were electrophoresed on denaturing gels and exposed to radiographic film. Results: Three of 18 UC specimens with instability at other chromosomal loci (17%) showed TGF-β1RII poly A tract mutation, including 2 cancers and 1 dysplasia; moreover, 2% of UC specimens without instability (1 of 43) (1 cancer), 81% of unstable sporadic colorectal cancers (13 of 16), and none of the 61 stable or unstable gastric or esophageal cancers contained TGF-β1RII mutations. Conclusions: Mutational inactivation of the poly A microsatellite tract within TGF-β1RII occurs early and in a subset of unstable UC neoplasms and commonly in sporadic colorectal cancers but may be rare in unstable gastric and esophageal tumors.

Original languageEnglish (US)
Pages (from-to)40-45
Number of pages6
Issue number1
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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