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Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status.
J Clin Oncol. 2007 Mar 01; 25(7):781-6.JC

Abstract

PURPOSE

To establish the clinicopathologic and familial differences within Amsterdam I-positive families, showing either tumor microsatellite instability (MSI) or microsatellite stability (MSS) in order to confirm or deny the existence of hereditary nonpolyposis colorectal cancer (HNPCC) without defects in the mismatch repair system.

PATIENTS AND METHODS

Sixty-four Amsterdam I-positive families were included in the study for which full, three-generation, family medical histories and colorectal paraffin-embedded tumors were obtained. Both personal and clinicopathologic information of patients were collected. In all cases, both the MSI status and the mismatch repair (MMR) protein expression were analyzed. MMR genetic testing was performed on the MSI families.

RESULTS

Of the Amsterdam I-positive families, 59.4% were tumor MSI, and 40.6% were tumor MSS. When comparing both groups, the statistical differences were observed in the age of onset (MSI, 41 years; MSS, 53 years); in the colorectal tumor location, more frequently proximal in MSI cases; in fewer mucinous tumors in MSS; and loss of MMR protein expression in the MSI tumors. Regarding the individual and familial cancer history, we observed a predominance of individuals with multiple primary tumors in MSI pedigrees, as well as differences in the type of tumors developed within the family.

CONCLUSION

Our findings support the suspicion of another hereditary colorectal syndrome different from HNPCC and characterized by MSS, the normal MMR immunohistochemical expression, the presence of only colorectal tumors, and the absence of individuals with multiple primary tumors. All these circumstances suggest the existence of a non-MMR gene being responsible for this new syndrome.

Authors+Show Affiliations

Familial Cancer Unit, Spanish National Cancer Centre, Melchor Fernández Almagro, Madrid, Spain. lvalle@cnio.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17228022

Citation

Valle, Laura, et al. "Clinicopathologic and Pedigree Differences in Amsterdam I-positive Hereditary Nonpolyposis Colorectal Cancer Families According to Tumor Microsatellite Instability Status." Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, vol. 25, no. 7, 2007, pp. 781-6.
Valle L, Perea J, Carbonell P, et al. Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status. J Clin Oncol. 2007;25(7):781-6.
Valle, L., Perea, J., Carbonell, P., Fernandez, V., Dotor, A. M., Benitez, J., & Urioste, M. (2007). Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 25(7), 781-6.
Valle L, et al. Clinicopathologic and Pedigree Differences in Amsterdam I-positive Hereditary Nonpolyposis Colorectal Cancer Families According to Tumor Microsatellite Instability Status. J Clin Oncol. 2007 Mar 1;25(7):781-6. PubMed PMID: 17228022.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status. AU - Valle,Laura, AU - Perea,Jose, AU - Carbonell,Pablo, AU - Fernandez,Victoria, AU - Dotor,Ana M, AU - Benitez,Javier, AU - Urioste,Miguel, Y1 - 2007/01/16/ PY - 2007/1/18/pubmed PY - 2007/3/22/medline PY - 2007/1/18/entrez SP - 781 EP - 6 JF - Journal of clinical oncology : official journal of the American Society of Clinical Oncology JO - J. Clin. Oncol. VL - 25 IS - 7 N2 - PURPOSE: To establish the clinicopathologic and familial differences within Amsterdam I-positive families, showing either tumor microsatellite instability (MSI) or microsatellite stability (MSS) in order to confirm or deny the existence of hereditary nonpolyposis colorectal cancer (HNPCC) without defects in the mismatch repair system. PATIENTS AND METHODS: Sixty-four Amsterdam I-positive families were included in the study for which full, three-generation, family medical histories and colorectal paraffin-embedded tumors were obtained. Both personal and clinicopathologic information of patients were collected. In all cases, both the MSI status and the mismatch repair (MMR) protein expression were analyzed. MMR genetic testing was performed on the MSI families. RESULTS: Of the Amsterdam I-positive families, 59.4% were tumor MSI, and 40.6% were tumor MSS. When comparing both groups, the statistical differences were observed in the age of onset (MSI, 41 years; MSS, 53 years); in the colorectal tumor location, more frequently proximal in MSI cases; in fewer mucinous tumors in MSS; and loss of MMR protein expression in the MSI tumors. Regarding the individual and familial cancer history, we observed a predominance of individuals with multiple primary tumors in MSI pedigrees, as well as differences in the type of tumors developed within the family. CONCLUSION: Our findings support the suspicion of another hereditary colorectal syndrome different from HNPCC and characterized by MSS, the normal MMR immunohistochemical expression, the presence of only colorectal tumors, and the absence of individuals with multiple primary tumors. All these circumstances suggest the existence of a non-MMR gene being responsible for this new syndrome. SN - 1527-7755 UR - https://www.unboundmedicine.com/medline/citation/17228022/Clinicopathologic_and_pedigree_differences_in_amsterdam_I_positive_hereditary_nonpolyposis_colorectal_cancer_families_according_to_tumor_microsatellite_instability_status_ L2 - http://ascopubs.org/doi/full/10.1200/JCO.2006.06.9781?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -