Brief Article
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World J Gastroenterol. Aug 28, 2011; 17(32): 3752-3758
Published online Aug 28, 2011. doi: 10.3748/wjg.v17.i32.3752
Repeated anastomotic recurrence of colorectal tumors: Genetic analysis of two cases
Renato Costi, Cinzia Azzoni, Federico Marchesi, Lorena Bottarelli, Vincenzo Violi, Cesare Bordi
Renato Costi, Federico Marchesi, Vincenzo Violi, Dipartimento di Scienze Chirurgiche, Università degli Studi di Parma, 43100 Parma, Italy
Renato Costi, Département de Chirurgie Digestive et Endocrinienne, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, 75679 Paris, France
Cinzia Azzoni, Lorena Bottarelli, Cesare Bordi, Dipartimento di Patologia e Medicina di Laboratorio, Sezione di Anatomia ed Istologia Patologica, Università degli Studi di Parma, 43100 Parma, Italy
Author contributions: Costi R, Azzoni C and Bordi C designed research; Costi R, Azzoni C and Bottarelli L performed research; Marchesi F, Azzoni C and Bottarelli L performed data collection, follow up endoscopy, histopathological examination and genetic analysis; Costi R and Violi V analyzed data; Costi R wrote the paper; Violi V and Bordi C gave an important intellectual contribution, supervised and finally approved the paper.
Supported by Parma University Research Funds
Correspondence to: Renato Costi, MD, PhD, Département de Chirurgie Digestive et Endocrinienne, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, 27, rue du Faubourg Saint-Jacques, 75679 Paris Cedex 14, France. renatocosti@hotmail.com
Telephone: +33-615404896 Fax: +33-143265678
Received: June 18, 2010
Revised: October 26, 2010
Accepted: November 2, 2010
Published online: August 28, 2011
Abstract

AIM: To investigate genetics of two cases of colorectal tumor local recurrence and throw some light on the etiopathogenesis of anastomotic recurrence.

METHODS: Two cases are presented: a 65-year-old female receiving two colonic resections for primary anastomotic recurrences within 21 mo, and a 57-year-old female undergoing two local excisions of recurrent anastomotic adenomas within 26 mo. A loss of heterozygosity (LOH) study of 25 microsatellite markers and a mutational analysis of genes BRAF, K-RAS and APC were performed in samples of neoplastic and normal colonic mucosa collected over the years.

RESULTS: A diffuse genetic instability was present in all samples, including neoplastic and normal colonic mucosa. Two different patterns of genetic alterations (LOH at 5q21 and 18p11.23 in the first case, and LOH at 1p34 and 3p14 in the second) were found to be associated with carcinogenesis over the years. A role for the genes MYC-L (mapping at 1p34) and FIHT (mapping at 3p14.2) is suggested, whereas a role for APC (mapping at 5q21) is not shown.

CONCLUSION: The study challenges the most credited intraluminal implantation and metachronous carcinogenesis theories, and suggests a persistent, patient-specific alteration as the trigger of colorectal cancer anastomotic recurrence.

Keywords: Anastomotic recurrence; Colorectal cancer; Allelic loss; Genetic alterations