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OC.08.1 NATURAL HISTORY OF LYNCH SYNDROME IN NORTHEASTERN ITALY
S20
Abstracts of the 20th National Congress of Digestive Diseases / Digestive and Liver Disease 46S (2014) S1–S144
OC.08.1 NATURAL HISTORY OF LYNCH SYNDROME IN NORTHEASTERN ITALY M. Tabuso ∗ , E. Orzes, R. Talamini, A. Viel, V. Canzonieri, R. Cannizzaro, M. Fornasarig Centro di Riferimento Oncologico - IRCCS, Aviano, Italy Background and aim: Lynch Syndrome (LS) is an inherited cancer predisposition bringing about 2-3% of all new cases of ColoRectal Cancer (CRC), caused by mutation in mismatch repair (MMR) genes. LS patients have a lifetime risk to develop a CRC up to 75% in men and 52% in women and an Endometrial Carcinoma (EC) up to 71%. The cancer spectrum involves other organs (ovary, stomach, urinary tract and small bowel), but with a lower risk. Material and methods: Families included in the study were registered in the “Registro Tumori Ereditari del colon-retto”, settled since 1992 at our Institution. Pathogenic mutations in MSH2, MLH1 and MSH6 were identified in 37 unrelated families. We tested 251 members of the families including the probands: 113 (45%) were gene carries (44M and 69F) and 138 were wild-type. 25 families displayed mutation in MSH2, 11 families in MLH1 and one in MSH6. Surveillance program included colonoscopy from age 22 with an interval of 1-2 years, abdominal ultrasound, urine cytology every two years and upper GI endoscopy every 4 years from age 35. For women, the gynecological work out included transvaginal ultrasonography and endometrial biopsy every two years from 30-35 years. Results: The first cancer diagnosed was CRC in almost all males. EC and CRC were equally diagnosed in women. The number of CRC increased abruptly until age 40 and decreased slowly with aging. Extra-colonic cancers (EXC) increased from age 50. 78 (69%) patients developed at least one cancer: 57 (50.4%) CRC and 32 female patients (46.4%) EC. Cancer of any type occurred in all patients over age 60. 66 (56.4%) had multiple primary cancers related to aging. A progressive increase of CRC and EXC was seen and patients with six EXC had a mean age of 74 years. The deaths registered were 11 (9.7%): 2 (1.7%) for pancreatic cancer and 9 (7.9%) for other diseases between 69 and 83 of age. Colonic surveillance lasted for an average period of 10.5 years (2-22 years). 5 patients (4.4%) out of 113 had CRC at stage T1 (2 pts), T2 (2 pts) and T2N1 (1 pt) and 38 (33.6%) patients had 121 advanced adenomas. Conclusions: Getting old, all LS patients displayed at least one cancer and more than 50% had multiple primary cancers. Colectomy with ileo-rectum anastomosis is the therapy of choice at first CRC diagnosed to avoid any further surgical procedures for that disease. Surveillance of organ targets should be included in long survivors from CRC.
OC.08.2 RESULTS OF A SCREENING PROGRAM DEVOTED TO FIRST DEGREE RELATIVES OF CRC PATIENTS: 3 YEARS EXPERIENCE G. Biscaglia ∗ , M. Nardella, A. Andriulli IRCSS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy Background and aim: About 30% of CRC presents familial aggregation and 1-5% belongs to known genetic syndromes. First-degree relatives of patient with CRC are a high risk population, eligible for a devoted screening program. Aims of this study are to assess adhesion, adenoma and cancer detection rate (AR, ADR and CDR) in a screening program devoted to asymptomatic 1st-degree relatives of CRC patient in a region without a general screening program. Material and methods: From January 2010 to December 2012 devoted personnel identified subjects with past or new diagnosis of CRC, inpatients or outpatients of a single gastroenterology center. A colonoscopy to be performed in analgesia or sedoanalgesia was offered to all 1st degree relatives aged between 45 and 75 yo or aged 10 year before the age of diagnosis of CRC. Subjects with a complete colonoscopy in the previous 5 years, severe comorbidity or former diagnosis of genetic syndromes (FAP, HNPCC, etc) were excluded. Results: We identified 238 families with at least one case of CRC and 1454 living 1st-degree relatives. Eligible subjects were 695 (M : F = 307 : 388,
median age 57). Two hundred and 29 subjects (32.9%) had a colonoscopy in the previous 5 years. We offered colonoscopy to 466 subjects, 282 (60,9%) accepted and 258 were performed (24 delayed); 182 subjects (39,1%) refused. Age of diagnosis, age of subject (under and over 57 years), gender, education didn’t affect AR. Significant differences in AR were found in distance from the site of our center (same administrative province vs other province or regions) and in type of access (voluntary vs after call). We detected an invasive cancer in 2 cases (0.3%), at least an adenomatous lesions in 127 subjects (24.7%) with at least a high grade dysplasia in 73 subjects (14,2%). Conclusions: Awareness of the importance of a screening test is present also in an area without a screening program. Moreover, colonoscopy offered by devoted personnel, performed in analgesia or sedo-analgesia in a nearby center is well accepted. Furthermore a slightly higher ADR and a clearly high adenoma detection rate (HADR) compared to general screening program seems to stress the importance of a devoted colonoscopy program in these patients.
OC.08.3 REDUCED 5-YEAR MORTALITY OF SCREEN-DETECTED COLO-RECTAL CANCERS (CRCS) COMPARED TO SYMPTOMATIC CRCS: RESULTS OF THE FIT-BASED LECCO CRC SCREENING C. Vailati ∗,1 , F. Parente 1 , E. Bonoldi 1 , A. Ardizzoia 1 , A. Ilardo 2 , F. Tortorella 2 , D. Cereda 3 , M. Cremaschini 4 , G. Achille 2 1 A.
Manzoni Hospital, Lecco, Italy; 2 Local Health Care Centre, Lecco, Italy; Health Care Centre, Milan, Italy; 4 Local Health Care Centre, Bergamo, Italy
3 Local
Background and aim: Population-based colorectal cancer (CRC) screening programmes aim to reduce disease-related mortality by detection of cancers at an earlier stage and by removal of its precursors. No study has specifically focused on the effect of a single faecal immunochemical testing (FIT) screening round with respect to a reduction in CRC-related mortality among average risk subjects. Material and methods: We compared 5-year mortality rates of screendetected CRCs with those of non-screening cancers diagnosed in the Lecco province in the same or in the previous biennium. We determined tumour characteristics and mortality of asymptomatic CRCs detected by FIT at the 1st biennial round of screening in the Lecco province. TNM stage at diagnosis, anatomical distribution of cancers along the colon and 5-year survival were compared with those of non-screening CRCs detected in the same age-range population during the screening period (January 2006-January 2008) as well as with those of CRCs diagnosed in our province in 2003-2004 (pre-screening biennium), whose data were retrieved from the Regional cancer registry. Kaplan-Meyer survival estimates and Log-rank test for equality of survivor functions were used for statistical analysis. Results: Stage distribution resulted significantly different between screening and non-screening CRCs. Among screen-detected cancers 73% were stage A or B as compared to 43% and 46% among non-screening CRCs detected in the same or previous biennium, respectively. Cumulative 5-year CRC-related mortality was significantly lower in screening CRC patients as compared to non-screening cancers detected in the same biennium (19% vs 53%, p<0.001) or in the biennium preceding screening implementation (50%). No differences in anatomical distribution of cancers nor in the presence of synchronous lesions were found between screening and non-screening CRC patients. Conclusions: CRCs are detected at earlier stages in asymptomatic individuals with positive FIT compared to non screening CRC patients. As a consequence, the cumulative 5-year disease-related mortality rate among screened patients is significantly reduced, already from the 1st round of screening.
Abstracts of the 20th National Congress of Digestive Diseases / Digestive and Liver Disease 46S (2014) S1–S144
OC.08.1 NATURAL HISTORY OF LYNCH SYNDROME IN NORTHEASTERN ITALY M. Tabuso ∗ , E. Orzes, R. Talamini, A. Viel, V. Canzonieri, R. Cannizzaro, M. Fornasarig Centro di Riferimento Oncologico - IRCCS, Aviano, Italy Background and aim: Lynch Syndrome (LS) is an inherited cancer predisposition bringing about 2-3% of all new cases of ColoRectal Cancer (CRC), caused by mutation in mismatch repair (MMR) genes. LS patients have a lifetime risk to develop a CRC up to 75% in men and 52% in women and an Endometrial Carcinoma (EC) up to 71%. The cancer spectrum involves other organs (ovary, stomach, urinary tract and small bowel), but with a lower risk. Material and methods: Families included in the study were registered in the “Registro Tumori Ereditari del colon-retto”, settled since 1992 at our Institution. Pathogenic mutations in MSH2, MLH1 and MSH6 were identified in 37 unrelated families. We tested 251 members of the families including the probands: 113 (45%) were gene carries (44M and 69F) and 138 were wild-type. 25 families displayed mutation in MSH2, 11 families in MLH1 and one in MSH6. Surveillance program included colonoscopy from age 22 with an interval of 1-2 years, abdominal ultrasound, urine cytology every two years and upper GI endoscopy every 4 years from age 35. For women, the gynecological work out included transvaginal ultrasonography and endometrial biopsy every two years from 30-35 years. Results: The first cancer diagnosed was CRC in almost all males. EC and CRC were equally diagnosed in women. The number of CRC increased abruptly until age 40 and decreased slowly with aging. Extra-colonic cancers (EXC) increased from age 50. 78 (69%) patients developed at least one cancer: 57 (50.4%) CRC and 32 female patients (46.4%) EC. Cancer of any type occurred in all patients over age 60. 66 (56.4%) had multiple primary cancers related to aging. A progressive increase of CRC and EXC was seen and patients with six EXC had a mean age of 74 years. The deaths registered were 11 (9.7%): 2 (1.7%) for pancreatic cancer and 9 (7.9%) for other diseases between 69 and 83 of age. Colonic surveillance lasted for an average period of 10.5 years (2-22 years). 5 patients (4.4%) out of 113 had CRC at stage T1 (2 pts), T2 (2 pts) and T2N1 (1 pt) and 38 (33.6%) patients had 121 advanced adenomas. Conclusions: Getting old, all LS patients displayed at least one cancer and more than 50% had multiple primary cancers. Colectomy with ileo-rectum anastomosis is the therapy of choice at first CRC diagnosed to avoid any further surgical procedures for that disease. Surveillance of organ targets should be included in long survivors from CRC.
OC.08.2 RESULTS OF A SCREENING PROGRAM DEVOTED TO FIRST DEGREE RELATIVES OF CRC PATIENTS: 3 YEARS EXPERIENCE G. Biscaglia ∗ , M. Nardella, A. Andriulli IRCSS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy Background and aim: About 30% of CRC presents familial aggregation and 1-5% belongs to known genetic syndromes. First-degree relatives of patient with CRC are a high risk population, eligible for a devoted screening program. Aims of this study are to assess adhesion, adenoma and cancer detection rate (AR, ADR and CDR) in a screening program devoted to asymptomatic 1st-degree relatives of CRC patient in a region without a general screening program. Material and methods: From January 2010 to December 2012 devoted personnel identified subjects with past or new diagnosis of CRC, inpatients or outpatients of a single gastroenterology center. A colonoscopy to be performed in analgesia or sedoanalgesia was offered to all 1st degree relatives aged between 45 and 75 yo or aged 10 year before the age of diagnosis of CRC. Subjects with a complete colonoscopy in the previous 5 years, severe comorbidity or former diagnosis of genetic syndromes (FAP, HNPCC, etc) were excluded. Results: We identified 238 families with at least one case of CRC and 1454 living 1st-degree relatives. Eligible subjects were 695 (M : F = 307 : 388,
median age 57). Two hundred and 29 subjects (32.9%) had a colonoscopy in the previous 5 years. We offered colonoscopy to 466 subjects, 282 (60,9%) accepted and 258 were performed (24 delayed); 182 subjects (39,1%) refused. Age of diagnosis, age of subject (under and over 57 years), gender, education didn’t affect AR. Significant differences in AR were found in distance from the site of our center (same administrative province vs other province or regions) and in type of access (voluntary vs after call). We detected an invasive cancer in 2 cases (0.3%), at least an adenomatous lesions in 127 subjects (24.7%) with at least a high grade dysplasia in 73 subjects (14,2%). Conclusions: Awareness of the importance of a screening test is present also in an area without a screening program. Moreover, colonoscopy offered by devoted personnel, performed in analgesia or sedo-analgesia in a nearby center is well accepted. Furthermore a slightly higher ADR and a clearly high adenoma detection rate (HADR) compared to general screening program seems to stress the importance of a devoted colonoscopy program in these patients.
OC.08.3 REDUCED 5-YEAR MORTALITY OF SCREEN-DETECTED COLO-RECTAL CANCERS (CRCS) COMPARED TO SYMPTOMATIC CRCS: RESULTS OF THE FIT-BASED LECCO CRC SCREENING C. Vailati ∗,1 , F. Parente 1 , E. Bonoldi 1 , A. Ardizzoia 1 , A. Ilardo 2 , F. Tortorella 2 , D. Cereda 3 , M. Cremaschini 4 , G. Achille 2 1 A.
Manzoni Hospital, Lecco, Italy; 2 Local Health Care Centre, Lecco, Italy; Health Care Centre, Milan, Italy; 4 Local Health Care Centre, Bergamo, Italy
3 Local
Background and aim: Population-based colorectal cancer (CRC) screening programmes aim to reduce disease-related mortality by detection of cancers at an earlier stage and by removal of its precursors. No study has specifically focused on the effect of a single faecal immunochemical testing (FIT) screening round with respect to a reduction in CRC-related mortality among average risk subjects. Material and methods: We compared 5-year mortality rates of screendetected CRCs with those of non-screening cancers diagnosed in the Lecco province in the same or in the previous biennium. We determined tumour characteristics and mortality of asymptomatic CRCs detected by FIT at the 1st biennial round of screening in the Lecco province. TNM stage at diagnosis, anatomical distribution of cancers along the colon and 5-year survival were compared with those of non-screening CRCs detected in the same age-range population during the screening period (January 2006-January 2008) as well as with those of CRCs diagnosed in our province in 2003-2004 (pre-screening biennium), whose data were retrieved from the Regional cancer registry. Kaplan-Meyer survival estimates and Log-rank test for equality of survivor functions were used for statistical analysis. Results: Stage distribution resulted significantly different between screening and non-screening CRCs. Among screen-detected cancers 73% were stage A or B as compared to 43% and 46% among non-screening CRCs detected in the same or previous biennium, respectively. Cumulative 5-year CRC-related mortality was significantly lower in screening CRC patients as compared to non-screening cancers detected in the same biennium (19% vs 53%, p<0.001) or in the biennium preceding screening implementation (50%). No differences in anatomical distribution of cancers nor in the presence of synchronous lesions were found between screening and non-screening CRC patients. Conclusions: CRCs are detected at earlier stages in asymptomatic individuals with positive FIT compared to non screening CRC patients. As a consequence, the cumulative 5-year disease-related mortality rate among screened patients is significantly reduced, already from the 1st round of screening.