Abstracts from the 11th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC), October 21–22, 2007, La Jolla, California, USA
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This paper characterizes Amsterdam-defined Asian HNPCC patients, finding that they predominantly present with left-sided tumors and advanced disease stages compared to Caucasian populations.
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This collection of abstracts from the 11th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer presents four distinct studies focusing on hereditary colorectal cancer syndromes. The first study characterizes Amsterdam-defined HNPCC in an Asian population, finding a predominance of left-sided tumors compared to Caucasian cohorts. The second review evaluates endoscopic surveillance and surgical outcomes for duodenal adenomas in familial adenomatous polyposis patients, highlighting the value of monitoring stage migration. A third analysis reveals that pathologists and surgeons frequently miss Lynch syndrome diagnoses despite microsatellite instability markers, underscoring the need for better familial risk assessment. The final abstracts investigate molecular mechanisms in MSI colorectal cancer through mouse models and genetic variations in African American populations. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.
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The
Jennifer S. Wilbur , Jessica L. Kent, Robert D. Legare
Cancer Risk Assessment and Prevention Program, Program in Women's Oncology, Women & Infants' Hospital/Brown University School of Medicine, 101 Dudley Street, Providence, RI 02905
Fate
Lisa LaGuardia , Margaret O'Malley, Kathleen Toderick, Elena Manilich, James Church
David G. Jagelman Registries, Department of Colorectal Surgery, Cleveland Clinic Foundation
Early
Ziqiang Yuan 1 , Joongho Shin 1 , Kenneth Fordyce 2 , Prashanth Sreeramoju 1 , Tara Kent 3 , Victoria Lai 1 , Noam White 4 , Thomas K. Weber 1
1 Department of Surgery and Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, New York, NY 10461; 2 Computational Decision Science Group, IBM USA, Burlington, VT; 3 Department of Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA; 4 Salanter Akiva Riverdale High School, New York, NY
Key words : early onset colorectal polyps, MYH Q324H, African Americans
Hnpcc
Jaime L. Bohl , Duveen Sturgeon, Gautam G. Rao, Paul E. Wise
Divisions of General Surgery and Gynecologic Oncology, Vanderbilt University Medical Center, D5248 Medical Center North, Nashville, TN 37232-2543; (615) 343-4612
Key words : endometrioid cancer, endometriosis associated intestinal tumors, HNPCC
Ileal
Olivia Will, Ripple F. Man, Kay F. Neale, Susan K. Clark
The Polyposis Registry, St Mark's Hospital, London, United Kingdom
Key words : familial adenomatous polyposis, extra-colonic, ileum
Lynch
Michelle Martin 1 , Lynn A. Burbidge 1 , Cynthia Frye 1 , Ben Roa, Richard Wenstrup 1
1 Myriad Genetic Laboratories, Inc. 320 Wakara Way, Salt Lake City, UT 84108
Key words : Lynch syndrome, mutation prevalence, genetic testing
Novel
Virginia J. Speare 1 , Andrea G. Jordan 1 , Mark A. Kaplan 1 , Wendy A. Conlon 2 , Immanuel K. Ho 1
1 Crozer Regional Cancer Center, Crozer Chester Medical Center, One Medical Center Blvd., Upland, PA 19013; 2 Quest Diagnostics Nichols Institute, San Juan Capistrano, CA
Key words : Lynch syndrome, MSH6, adrenocortical carcinoma
Rapid
Deborah Nagle , Jeff Goldsmith, Doug Pleskow, Taryn Schiripo, Jill Krejdovsky
Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215
Darwin
Andre da Luz Moreira , James M. Church
Department of Colorectal Surgery, Cleveland Clinic, Ohio
Key words : familial adenomatous polyposis, laparoscopy, ileo-pouch anal anastomosis
Survey
T.M. Vu 1 , E. Salo 2 , C.I. Amos 1 , R.R. Broaddus 1 , H. Northrup 3 , M.A. Rodriguez-Bigas 1
1 University of Texas M.D. Anderson Cancer Center, Houston, Texas; 2 St Joseph's Regional Medical Center, Paterson, New Jersey; 3 The University of Texas Medical School at Houston, Houston, Texas
Falling
Julian Sanchez , Jon Vogel, Matthew Kalady, James Church
Department of Colorectal Surgery, Cleveland Clinic Foundation, Cleveland, Ohio 44195
Key words : Lynch syndrome, microsatellite instability, Bethesda criteria
Funding
This research was supported, in part, by a cancer prevention fellowship supported by the National Cancer Institute to The University of Texas M.D. Anderson Cancer Center's Cancer Prevention Research Training Program R25 CA56452, Robert M. Chamberlain, Ph.D., Principal Investigator.
Methods
A retrospective medical record review was performed on patients who, between February 1996 and December 2006, underwent genetic counseling evaluation for HNPCC, and/or whose tumors had microsatellite instability (MSI-H), and/or loss of protein expression on immunohistochemistry (IHC) analyses at M.D. Anderson Cancer Center. Patients were classified into three study groups according to their MMR gene status.
Results
Seventy-one patients had an MMR gene mutation (mutation-positive group), 12 had a variant of unknown significance (VUS group), and 40 had no mutation clinically identified, but did have microsatellite instability and/or abnormal immunohistochemistry protein expression (mutation-negative group). hMSH2 alterations were present in 50 mutation-positive patients and 6 VUS patients; hMLH1 alterations were present in 18 mutation-positive patients and 5 VUS patients; and hMSH6 alterations were present in 3 mutation-positive patients and 1 VUS patient. Males were diagnosed with colorectal cancer at an earlier age than females. Patients in the mutation-positive group had the oldest age at sentinel cancer diagnosis and oldest age at first colorectal cancer diagnosis among the three study populations (p = 0.0054; p = 0.0003). Individuals with non-truncating mutations had a younger age at sentinel cancer diagnosis compared to individuals with truncating mutations (p = 0.0488). An hMSH2 VUS (G683R) occurred exclusively in patients of African American decent and this may represent a population-specific mutation.
Section
Francesca Molinari 1 , Federica Perrone 2 , Andrea Lampis 2 , Paola Sala 3 , Chiara Bassi 4 , Michele Sardella 4 , Paolo Radice 5 , Marco A. Pierotti 5 , Milo Frattini 1 , Silvana Pilotti 2 , Lucio Bertario 3
1 Laboratory of Molecular Diagnostic, Institute of Pathology, Locarno, Switzerland; 2 Unit of Experimental Molecular Pathology, Department of Pathology; 3 Preventive-Predictive Medicine Unit; 4 Department of Experimental Oncology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy; 5 Department of Experimental Oncology, Istituto Nazionale per lo Studio e la Cura dei Tumori and FIRC Institute of Molecular Oncology (IFOM), Milan, Italy
Key words : BRAF , microsatellite instability, Bethesda criteria
Long Term
Kweku Appau , Carol A. Burke, Mathew Kalady, Ellen McGannon, Susan Fay, James Church
Department of Colorectal Surgery; Gastroenterology and Cancer Center, The Cleveland Clinic Foundation, Cleveland, OH
Key words : family history, colorectal cancer, surveillance recommendations
Background
Hereditary non-polyposis colorectal cancer (HNPCC/Lynch syndrome) is an autosomal dominant cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes – mainly hMLH1, hMSH2, hMSH6, and hPMS2. The purpose of this study was to examine the prevalence of cancers and evaluate genotype-phenotype correlations in patients from a heterogeneous North American patient population.
Colorectal
Ajay Goel 1 , Takeshi Nagasaka 1 , Jennifer Spiegel 2 , Takeshi Nagasaka 1 , Sheryl Livingston 3 , Richard Meyer 2 , Warren E. Lichliter 3 , Richard C. Boland 1
1 Department of Internal Medicine, GI Cancer Research Laboratory, and Charles A Sammons Cancer Center; 2 Department of Pathology; 3 Department of Colorectal Surgery, Baylor University Medical Center, Dallas, TX
Conclusion
The results of this investigation suggest that our study population elucidated both phenotypic similarities and differences compared to what is currently reported in the HNPCC literature. Further studies evaluating large, heterogeneous North American patient populations and mutation-specific genotype-phenotype correlations are warranted.
Endoscopic
R. Mackey 1 , M. Johnson 1 , N. Brown 1 , C. Burke 2 , J. Church 3 , R.M. Walsh 1
1 Department of General Surgery; 2 Department of Gastroenterology; 3 Department of Colorectal Surgery, Cleveland Clinic, 9500 Euclid Avenue, General Surgery/A80, Cleveland, Ohio, 44195
Key words : familial adenomatous polyposis, duodenal adenomas, pancreas-sparing duodenectomy
Educational
Jan T. Lowery , Lisen Axell, Wendy Garlitz
University of Colorado and Denver Health Sciences Center, Cancer Center, UCDHSC at Fitzsimons, 13001 E. 17 th Pl., Aurora, CO 80045
Key words : HNPCC, educational outreach, cancer registry
Prospective
Margaret O'Malley 1 , Lisa LaGuardia 1 , Marcos Bonardi 1 , Grace Cheah 2 , James Church 1 , Jon Vogel 1 , Mark Baker 2 , Carol A. Burke 3
1 Department of Colon and Rectal Surgery; 2 Department of Radiology; 3 Department of Gastroenterology, Cleveland Clinic Foundation
Recruitment
M.S. Lewandowski , D.W. Neklason, K.W. Jasperson, A.Y. Kinney, R.W. Burt
Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112-5550
Key words : family expansion, recruitment, population-based cancer registry
Down Regulation
Joongho Shin 1 , Ziqiang Yuan 1 , Prashanth Sreeramoju 1 , Tara Kent 2 , Winfred Edelman 3 , Kenneth Fordyce 4 , Victoria Lai 1 , Kara Fordyce 1 , Noam White 5 , Thomas K. Weber 1
1 Department of Surgery and Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, New York, NY 10461; 2 Department of Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA; 3 Department of Cell Biology, Albert Einstein College of Medicine; 4 Computational Decision Science Group, IBM USA, Burlington, VT; 5 Salanter Akiva Riverdale High School, New York, NY
Key words : microsatellite instability, CDK2-AP1, Mlh1 knockout mouse
Cyclooxygenase 2
Elisa Pastore 1 , Milo Frattini 1-3 , Stefano Signoroni 1,2 , Tiziana Negri 1 , Elena Tamborini 1 , Paola Casieri 1 , Marta Orsenigo 1 , Luca Da Riva 1 , Paolo Radice 2 , Paola Sala 4 , Alessandro Gronchi 5 , Silvana Pilotti 1 , Marco A. Pierotti 2,4-6 , Lucio Bertario 4
1 Experimental Molecular Pathology, Department of Pathology; 2 Department of Experimental Oncology, Fondazione IRCSS Istituto Nazionale dei Tumori, Milan, Italy; 3 Laboratory of Molecular Diagnostic, Institute of Pathology, Locarno, Switzerland; 4 Preventive-Predictive Medicine Unit; 5 Department of Medical Oncology, Fondazione IRCSS Istituto Nazionale dei Tumori, Milan, Italy; 6 IFOM, FIRC Institute of Molecular Oncology, Milan, Italy
Key words : aggressive fibromatosis, RTK activation profile, COX-2, PDGFRA, PDGFRB
Amsterdam Defined
Poh-Koon Koh , Min-Hoe Chew, Carol Loi, Choong-Leong Tang, Kong-Weng Eu
Singapore Polyposis Registry & Department of Colorectal Surgery, Singapore General Hospital, Outram Road, Singapore (169 608)
Key words : Asians, HNPCC, Amsterdam criteria
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