Peutz-Jeghers syndrome and duodeno-jejunal adenocarcinoma: therapeutic implications Síndrome de Peutz-Jeghers y adenocarcinoma duodenal-yeyunal: implicaciones terapéuticas

• Main Authors: J. A. Cienfuegos, J. Baixauli, G. Zozaya, A. Bueno, J. Arredondo, F. M. Regueira, R. Angós, J. L. Hernández-Lizoáin, M. A. Idoate
• Format: Article
• Language: English
• Published: Aran Ediciones 2009-12-01
• Series: Revista Espanola de Enfermedades Digestivas
• Subjects: Peutz-Jeghers syndrome; Hamartomatous; Carcinogenesis; Intestinal polyposis; Hereditary cancer
• Online Access: http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082009001200009

The Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous poliposis describred in 1921. Hemminki in 1997 described the presence of LKB-1 mutation tumor-suppressor gen. The patients with PJS develop a higher cumulative incidence of gastrointestinal, pancreas and extraintestinal tumors, being occasion of a renew interest on hamartomatous polyposis syndromes regarding the clinical care, cancer surveillance treatment and long term follow-up. We report the case of a 38 years old male, diagnosed of PJS who developed a multiple adenocarcinoma in duodenum and yeyunum. Surgically treated and with a long-term free disease survival of 11 years represents the sixth case reported in the spanish literature of PJS associated with a gastrointestinal tumor. A critical review, molecular alterations and the established criteria of tumor screening and surveillance are reviewed.