Techniques in Coloproctology

, Volume 17, Issue 1, pp 79–87

Clinical and molecular features of attenuated adenomatous polyposis in northern Italy

  • M. Ponz de Leon
  • E. D. L. Urso
  • S. Pucciarelli
  • M. Agostini
  • D. Nitti
  • L. Roncucci
  • P. Benatti
  • M. Pedroni
  • S. Kaleci
  • A. Balsamo
  • C. Laudi
  • C. Di Gregorio
  • A. Viel
  • G. Rossi
  • T. Venesio
Original Article

DOI: 10.1007/s10151-012-0887-5

Cite this article as:
de Leon, M.P., Urso, E.D.L., Pucciarelli, S. et al. Tech Coloproctol (2013) 17: 79. doi:10.1007/s10151-012-0887-5

Abstract

Background

Attenuated familial adenomatous polyposis (AFAP) is characterized by the presence of 10–99 colorectal adenomas. The disease may be associated with mutations in either APC or MUTYH genes. We purposed to evaluate the contribution of adenomatous polyposis coli (APC) and MutY homologue (MUTYH) germline alterations to the AFAP phenotype and to identify genotype/phenotype correlations.

Methods

During counselling for familial adenomatous polyposis (FAP), 91 probands (and 107 affected individuals) who met the criteria of AFAP were identified. Eighty-two families were screened for constitutional mutations of the APC and MUTYH genes.

Results

MUTYH mutations were detected in 21 families (25.6 % of the 82 tested), and APC mutations in 7 (8.5 %). Overall, constitutional alterations were found in 34.1 % of the probands. Patients with APC mutations were younger at cancer onset and had a higher mean number of polyps (48.5 ± 33.0 in APC+ individuals vs. 35.7 ± 24.9 in MUTYH+ individuals, and 33.2 ± 18.4 in the “no mutation” group). Clinical features rendered the “no mutation” group closer to MUTYH+ than to the APC+ group. Colorectal cancer at diagnosis was detected in 40 % of AFAP individuals.

Conclusions

AFAP is a new clinical entity with its frequency in the general population still undefined. The number of adenomas varies greatly, with an average of 30–40 lesions. The molecular basis of AFAP can be established in approximately 1/3 of the patients. Both MUTYH and APC genes are implicated in AFAP, though the role of MUTYH is of considerably greater relevance.

Keywords

Colon Rectum Cancer APC MUTYH FAP AFAP 

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • M. Ponz de Leon
    • 1
  • E. D. L. Urso
    • 2
  • S. Pucciarelli
    • 2
  • M. Agostini
    • 2
  • D. Nitti
    • 2
  • L. Roncucci
    • 1
  • P. Benatti
    • 1
  • M. Pedroni
    • 1
  • S. Kaleci
    • 1
  • A. Balsamo
    • 3
  • C. Laudi
    • 3
  • C. Di Gregorio
    • 4
    • 5
  • A. Viel
    • 6
  • G. Rossi
    • 1
  • T. Venesio
    • 3
  1. 1.Dipartimento di Medicina InternaUniversità di Modena e Reggio EmiliaModenaItaly
  2. 2.Dipartimento di Scienze Oncologiche e ChirurgicheAzienda Ospedaliera Universita’ di PadovaPaduaItaly
  3. 3.Anatomia Patologica e GastroenterologiaIstituto per la Ricerca e la Cura del CancroCandioloItaly
  4. 4.Divisione di Anatomia PatologicaOspedale di CarpiModenaItaly
  5. 5.Centro di Riferimento OncologicoAvianoItaly
  6. 6.Oncologia Sperimentale I°, Centro Oncologico RegionaleAvianoItaly

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