Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar

• Karin Álvarez ^[1] ; Marjorie de la Fuente ^[1] ; Paulina Orellana ^[1] ; Ana María Wielandt ^[1] ; Claudio Heine ^[1] ; Cristóbal Suazo ^[1] ; Udo Kronberg ^[1] ; Pilar Carvallo ^[2] ; Francisco López-Köstner ^[1]
  1. [1] Clínica Las Condes

     Clínica Las Condes

     Santiago, Chile

     
  2. [2] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 140, Nº. 11, 2012
• Idioma: español
• Títulos paralelos:
  • Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis
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• Resumen

  • Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.