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L Bertario

Publications and source records attributed to L Bertario.

At least 55 records · Page 3Linked to original sources
PubMed1993

Surveillance in hereditary nonpolyposis colorectal cancer: an international cooperative study of 165 families. The International Collaborative Group on HNPCC.

During its second meeting at Amsterdam in 1990, the International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) decided to carry out a pilot study on colorectal cancer surveillance in HNPCC. The objectives of the study were to ascertain in each of the participating centers the number of HNPCC families, the recommended screening procedures, the age at diagnosis of colorectal cancer (CRC), and the occurrence of interval cancers. Nine centers in seven countries including Denmark, Finland, Italy, Japan, The Netherlands, Switzerland, and the United States participated. Data were derived from a total of 165 families. With respect to screening, half of the centers advise colonoscopy as the only procedure. The interval between the consecutive examinations varies from one to three years. In the majority of the centers, screening begins at 20 to 25 years. Lifelong screening is recommended by three centers, while the rest advise discontinuation at age 60 to 75 years. The family material included 840 patients with colorectal cancer. The mean age at diagnosis was 45 years, and about 15 percent were diagnosed at age 60 or later. A total of 682 high-risk relatives are being followed. After the follow-up of 1 to 10 years in these families, only six cases of interval cancers were encountered.

Adolescent↗
PubMed1993

Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP).

Seventy-eight patients from 26 families were examined to evaluate the potentiality of congenital hypertrophy of retinal pigment epithelium (CHRPE) as a phenotypic marker for familial adenomatous polyposis (FAP). The examined subjects were divided into three different groups: Group I, patients with FAP without extra colonic manifestations (ECM); Group II, patients with FAP and ECM (desmoids/osteomas/upper gastrointestinal adenomas); and Group III, individuals at risk without FAP. Of 24 Group I patients (median age 18 years) 16 had CHRPE compared with 14 out of 24 patients (median age 29 years) in Group II and only three out of 30 patients in Group III. The overall sensitivity of CHRPE for FAP was 70% (+/- 13%) without any difference related to ECM; the predictive value was 92%. The specificity calculated from Group III (median age 26 years) was 90%, but the results should not be considered as definitive because a longer follow-up to determine the appearance of adenomas is required. The data suggest that examination for CHRPE is an inexpensive, non-invasive test for FAP, but the absence of retinal lesions does not eliminate the necessity for adequate follow-up of individuals at risk.

Adenomatous Polyposis Coli↗
PubMed1993

Correlation between relatives for colorectal cancer mortality in familial adenomatous polyposis.

It has long been realized that age-specific cancer mortality in Familial Adenomatous Polyposis (FAP) was bimodal, and a theory was proposed in which the involved locus was polymorphic in the general population. After the molecular cloning of the region 5q21, it has been suggested that the phenotypic variability in FAP may be due to the interaction of two loci, one of which is polymorphic. We show that these two hypotheses lead to different predictions of the correlation between relatives for a phenotypic trait, and use colorectal cancer mortality data from the Italian Polyposes Registry to verify them. We conclude that the first of the two is more likely and suggest that the same variation that we observe among the affected subjects is present in the general population, thus causing a significant difference between individuals for colon cancer susceptibility.

Adenomatous Polyposis Coli↗
PubMed1993

Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis.

The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. It is also implicated in the development of sporadic colorectal tumors. The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family. Moreover, the identification of the spectrum of APC gene mutations in patients is of great interest in the study of the biological properties of the APC gene product. We analyzed the entire coding region of the APC gene by the PCR-single-strand conformation polymorphism method in 42 unrelated Italian APC patients. Mutations were found in 12 cases. These consist of small (5-14 bp) base-pair deletions leading to frameshifts; all are localized within exon 15. Two of these deletions, a 5-bp deletion at position 3183-3187 and a 5-bp deletion at position 3926-3930, are present in 3/42 and 7/42 cases of our series, respectively, indicating the presence of mutational hot spots at these two sites.

Adenomatous Polyposis Coli↗
PubMed1993

APC gene mutations in Italian familial polyposis coli patients.

Adenomatous polyposis coli is an autosomal dominant disease characterized by the development of hundreds of colorectal adenomas in young adults. If prophylactic colectomy is not performed, colorectal cancer develops in virtually all affected individuals by the fifth decade of life. All at-risk relatives older than 10 years of age need to be screened regularly by endoscopy. Recently, the gene responsible for the disease, the APC gene, was cloned. The finding of inactivating mutations of the APC gene in Italian APC patients allowed us to offer DNA-based diagnostic tests to these families.

Adenomatous Polyposis Coli↗
PubMed1992

Double versus single stapling technique in rectal anastomosis.

A retrospective analysis to compare the single vs double stapled technique for rectal anastomosis was carried out on patients that underwent radical surgical resection between January 1986 and January 1989 at the Istituto Nazionale Tumori of Milan. In 143 patients anastomotic integrity had been checked both intraoperatively with air insufflation and postoperatively by water soluble contrast enema. A single stapled anastomosis (SST) was performed using the EEA instrument in 94 patients, and in 49 patients a double stapled (DST) using the EEA and TA instruments was performed. The level of the anastomosis was less than or equal to 10 cm from the anal margin in 94 patients (54 SST, 40 DST). In 52 patients it was greater than 10 cm (40 SST, 12 DST) (SST vs DST ns). The presence of anastomotic dehiscence occurred in 29 (20%) patients (17 SST, 12 DST). This was not related either to the anastomotic site or to the suture technique used. The dehiscence was located on the posterior wall in 79% of cases and in 58% the size was less than 1 cm. In 78% clinical symptoms were evident. There was no difference between SST and DST patients. Further surgery (colostomy) was necessary in six patients (2 SST, 4 DST). Two patients died through complications (1 SST, 1 DST); making an overall mortality rate of 1.0% and 2.0% in each group. There was no difference in infection rate and length of postoperative stay in the two groups. Our data demonstrate that both methods give similar results.(ABSTRACT TRUNCATED AT 250 WORDS)

Anastomosis, Surgical↗
PubMed1988

Hepatoblastoma and familial adenomatous polyposis.

Eleven children have been identified as having hepatoblastoma and a family history of adenomatous polyposis, and 14 additional instances of this association have been collected from the literature. Among the 11 survivors of hepatoblastoma in the combined series, adenomatous lesions have been sought in seven and detected in six patients at ages 7 to 25 years. Five of these patients also have congenital hypertrophy of the retinal pigment epithelium, a marker for carriers of the polyposis gene. These findings strengthen the association between hepatoblastoma and familial adenomatous polyposis and have led to the establishment of the Hepatoblastoma-Adenomatous Polyposis Registry.

Adenomatous Polyposis Coli↗
PubMed1988

Abnormal pattern of mucin secretion at the resection margin of colorectal carcinomas.

In a retrospective study, we investigated 56 consecutive patients who had undergone radical intestinal resection for colorectal adenocarcinoma and who had developed local or distant recurrences of the disease. We found that the presence of a predominant sialomucin pattern at the margins of resection of the surgical specimen was correlated with a high percentage of local, endoluminal recurrence in the anastomotic mucosa. In contrast, no correlation could be found when the recurrences occurred in the outer tissues around the anastomosis or at some distance from it.

Adenocarcinoma↗
PubMed1988

Sensitivity of Hemoccult test for large bowel cancer in high-risk subjects.

From 1979 to 1982, 1233 symptom-free subjects at high risk for colon cancer because of family history and/or personal history of bowel neoplasia (cancer or adenomatous polyp) were examined with a guaiac test (Hemoccult II) for occult blood in stools. The test was positive (H+) in 98 subjects (7.9%). Endoscopy was subsequently performed on 86% of the H+ and on 64% of the H- subjects. Of 20 in invasive cancers found, 15 had been H+ [75.0%; 95% confidence interval (CI), 54.3-91.0%]. Of 96 patients with adenoma(s), 23 were H+ (24%; 95% CI, 16.0-33.0%). However, the sensitivity for adenomas was higher in patients with multiple adenomas or with a single adenoma measuring 2 cm or more in its largest diameter (37.5%; 95% CI, 21.8-54.7%). Of 699 subjects free of neoplastic lesions at endoscopy, 47 had been H+, ie, false positive (6.7%; 95% CI, 5.0-8.7%). Adjusting for differential compliance of H+ and H- subjects to endoscopy, a corrected estimate for sensitivity would be 69% for cancer and 19% for adenomas; the corrected estimate for the false-positive rate would be 5%.

Adenoma↗
PubMed1987

Colonoscopy in ostomy patients. Results at the first postoperative examination.

Patients with a personal history of rectal cancer are considered at high risk for metachronous large-bowel primaries. Since a malignant growth was the main reason for performing a colostomy in patients followed at the centers of the authors' association (AISTOM), a correct follow-up approach for these patients is very important. A multicentric clinical trial was thus carried out to evaluate the efficacy of transstomal endoscopic exploration (TEE) of the residual colon, and data collection began on May 31, 1984. Nine hundred fifty-seven patients were submitted to TEE after curative abdominoperineal resection (Miles) for rectal cancer. The male-female ratio was 1.3; 89.6 percent of the patients were over 50 years of age. A family history of large-bowel cancer was present in 18 percent, and in 23 percent of the patients the cancer was associated with synchronous adenomas. Only 31 percent of the patients had colonoscopy or double-contrast barium enema x-ray beyond the neoplastic area before surgery. TEE was done in 96.8 percent of the patients; in 3.3 percent the examination was not possible, mainly for stenosis of the stoma (in 2.3 percent). In 82 percent of the patients a complete large-bowel exploration was possible: a new large, bowel cancer was found in 22 patients (2.2 percent) and an adenoma in 183 patients (19.1 percent). These results show that, because it is safe, practical, and effective, endoscopy plays an important role in the follow-up of ostomates.

Adenocarcinoma↗
PubMed1987

Role of cellular retinoic acid binding protein (cRABP) in patients with large bowel cancer.

The presence of cellular retinoic acid binding protein (cRABP) was analyzed in 13 consecutive patients with large bowel cancer (one right colon and 12 rectum-sigmoid, classified as three Duke B, eight C, and two D). Specimens of neoplastic tissue and of adjacent mucosa were obtained at surgery, and cRABP was determined by an assay based on incubation of partially purified cytosol with labeled retinoic acid and ultracentrifugation in sucrose density gradients. Sixty-one percent of tumors contained detectable levels of cRABP, whereas 58.3% of normal mucosal specimens were positive for cRABP. Among the positive tumors 62.5% contained cRABP also in the corresponding mucosa; in the group of cRABP-negative tumors, 40% showed cRABP in the adjacent mucosa. No correlation could be established with the grading or the stage of the tumors; however, interestingly, 100% (three cases) of gelatinous carcinomas were cRABP positive. Since cRABP seems to be a character of neoplastic cells contrary to normal ones, it would be interesting to investigate the conditions that influence the presence of this protein in normal appearing mucosa adjacent to carcinoma.

Carrier Proteins↗
PubMed1986

Radiologic diagnosis of invasive carcinoma on adenomatous polyps of the colon.

The radiographic appearance at double contrast enema of 33 cases of invasive cancer on adenomatous polyps (AP) of the colon is reviewed. The radiologic diagnosis of malignancy was prospectively made in 54.5% of the cases. In 45.5% of the cases, malignancy was not suspected at the time of examination. The endoscopic appearance of these lesions was identical to that seen on the barium study. There are no radiologic criteria able to entirely rule out the possibility of a carcinomatous transformation of an AP. However, the radiologic features of malignancy (indentation of the intestinal wall and/or irregular outline of the surface of the polyp) have to be considered quite reliable.

Adenocarcinoma↗
PubMed1985

Outpatient biopsy of breast cancer. Influence on survival.

From 1948 to 1975, at the Istituto Nazionale Tumori of Milan, 209 patients underwent extended radical mastectomy (ERM) for breast cancer classified as T1 NO-1 MO. In 57 patients (27.3%), the ERM was preceded by an excisional biopsy performed in the outpatient clinic (Group A), of which 75% were performed within 30 days of admission and 25% after 30 days (average, 25 days; range 5-99). The remaining 152 patients (Group B) underwent an extemporaneous frozen biopsy. There was no difference in the distribution of the histologic types in the two groups. The axillary lymph nodes (N) and the internal mammary chain (MI) were free of neoplastic invasion (N-, MI-) in 156 patients (74.6%), 44 in Group A (77.2%) and 112 in Group B (73.7%). Actuarial 10-year survival of the patients was 79.9% in Group A and 77.7% in Group B (p = NS). It was 90% in N- MI- patients of Group A and 81.9% in those of Group B (p = NS). Instead, for N+ patients, actuarial survival at 10 years was 50% in Group A and 67% in Group B (p = NS), and for MI+ patients it was 50% and 49.8%, respectively. These present data do not support the hypothesis that a delay between biopsy and radical surgery of breast cancer is an important prognostic factor.

Actuarial Analysis↗
PubMed1983

Surgical treatment for carcinoma of the gastric cardia: a modified proximal esophagogastrectomy.

Proximal esophagogastrectomy saving only the distal half of the greater curvature of the stomach was retrospectively evaluated in 91 consecutive patients with resectable carcinoma of the gastric cardia. Division of the right gastric artery at its beginning provided a free nodal margin if N1 diffusion was observed. Operative mortality was 6.5% and fatal leak rate 3.8%. Survival without dysphagia occurred in all but stage I tumors; for larger tumors recurrence and reflux esophagitis were not able to produce dysphagia because distant metastases were faster to kill the patients. Five-year survival was 0% for stage IV (i.e. incomplete macroscopic resection), 8% for stage III, 12% for stage II and 53% for stage I. Local recurrence occurred only at esophageal anastomosis and for every stage, whereas regional recurrence occurred only for tumors with nodal diffusion. The results of this study are not suitable for a comparison with total esophagogastrectomy by inductive logic, nevertheless deductive arguments are possible if patterns of recurrence are considered. The possibility of regional recurrence for N1 and not for N0 tumors means that the volume of nodal resection has diagnostic specificity for N0 but not for N1 tumors. If N2 nodal diffusion is really a sistemic disease, as indicated by current reports, than greater nodal resection by total esophagogastrectomy can only improve the diagnostic specificity of N1 assessment but not survival.

Aged↗
PubMed1982

Parity and breast cancer: confirmed evidence of an effect on age at diagnosis.

An evaluation is made of the hypothesis of Woods et al. (1) that the number of full-term pregnancies constitutes a factor of growth acceleration in breast cancer. Our results confirm, at least in part, the effect of parity on age at diagnosis of breast cancer. Patients with two or more children were significantly younger at the time of diagnosis than were those with none or one child. Age at first birth and duration of lactation do not seem to be, in this analysis, confounding factors for the observed association.

Adult↗