Primary anorectal malignant melanoma: report of two cases.

Primary anorectal malignant melanoma is a fairly uncommon but highly malignant disease. It is sometimes mistaken for benign conditions such as hemorrhoids or rectal polyps. Here we describe two cases of primary malignant melanoma of the rectum: in one patient a wide local excision (WLE) was performed and in the other an abdominoperineal resection (APR), both with curative intent. Both patients developed systemic recurrences and died of their disease at 24 and 10 months, respectively. In conclusion, the prognosis of anorectal melanoma is poor, irrespective of surgical treatment. WLE is the first choice for primary anorectal melanoma, while APR should be reserved for those cases where complete transrectal tumor resection is technically impossible.

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.

BACKGROUND: More than 100 different mutations in the adenomatous polyposis coli (APC) gene have been identified; virtually all lead to the production of a truncated protein. Clinical details of patients with missense mutations undoubtedly cosegregating with the disease have not been reported and may be relevant in understanding the APC protein function. METHODS: In one family with familial adenomatous polyposis (FAP) the APC gene was analyzed by SSCP and sequencing of the aberrant SSCP band. RESULTS: A missense mutation in exon 15 at nucleotide 4921 segregating with the disease was observed. This predicts a tryptophan instead of an arginine at amino acid 1641 of the APC protein. No such mutation was present in 100 control subjects. CONCLUSIONS: In this family the colonic manifestations are as expected for classical FAP. However, the occurrence of congenital hypertrophy of the retinal pigment epithelium is unusual, owing to the inconsistency of this manifestation between family members and because congenital hypertrophy of the retinal pigment epithelium is generally absent when mutations are after codon 1387.

[Factors affecting recurrence after surgical treatment of Crohn disease]. / Fattori influenzanti la recidiva dopo trattamento chirurgico del morbo di Crohn.

Surgery does not cure Crohn's disease, but only its complications, as the recurrence rate that requires a new intervention is 6% per year. The resections performed by the surgeon should be as limited as possible, in order to avoid the consequent malabsorption. The identification of two forms of Crohn's disease, with different aggressiveness, has found that the stricturoplastic is an encouraging way of treatment for those forms with a prevalent stenotic component. A lot of studies have evaluated the relationships between recurrences and resections on margins microscopically free or affected by the disease. The aim of this study was a retrospective verification of the influence of any possible microscopical residue of the disease on the recurrence rate, evaluating whether the two different forms of aggressiveness of the disease (presence of stenosis or fistula) can influence the rate and precocity of the recurrence onset. In 37 patients operated for the first time of ileal or ileocolic resection, the overall recurrence rate was 18.9%; neither the presence of microscopically affected margins nor the presence of fistulas or stenosis has showed to have an influence on the onset of the recurrences. The only data that emerged is a greater precocity of the onset of recurrence in those patients whose disease was characterised by the presence of enteric fistulas. The forms in which fistulas and perforations were evident showed a recurrence rate not significantly higher than that of forms with stenosis only, but the period of time free from the disease was notably longer for the latter. In the end, patients in which typical granulomas were present showed a recurrence rate of just 9%, compared to 23% of patients in which granulomas were absent. MATERIALS AND METHODS. From 1980 through 1992, 61 patients affected by Crohn's disease were operated. There were 39 men and 22 women (mean age: 40.4 years). The mean length of the follow-up was 55.5 months. It was the first operation for 43 patients, while 9 had already undergone surgery in other hospitals; 9 patients showed anorectal complications. The operations performed on the patients for the first time have been ileal resection in the following localizations: duodenum-jejunum 4, jejunum and ileal 34, colic 5; the recurrences treated have been ileal-jejunum in 7 cases and colic in 2. In 2 cases of recurrence a stricturoplastic has been performed. RESULTS. The operative mortality was of 3 patients: 2 due to sepsis for anastomotic dehiscence and 1 to systemic mycosis. Four postoperative fistulas were observed. Recurrence of the disease occurred in 13 patients (26.5%), specifically in 21.4% of the patients operated for the first time and in 57.1% of those that were operated for recurrences. DISCUSSION AND CONCLUSIONS. In the treatment of Crohn's disease, it is important to identify any possible group with high risk of recurrence in order to undertake an appropriate medical prophylaxis. The results concerning the presence of microscopical disease on the resection margins are today still controversial. Some groups of authors prefer wide resection margins, some others are in favour of restricted resections. Our considerations let us assert that in those patients in which the resections have been performed on margins with microscopic presence of the disease, the interval before the recurrence occurs is not significantly shorter than that of patients with free margins. But the patients suffering from Crohn's disease with fistulae, probably need medical post-operative therapy to delay recurrences onset.

[Surgical treatment of rectal cancer: prognostic factors for long-term survival]. / Trattamento chirurgico del cancro del retto: fattori prognostici per la sopravvivenza a lungo termine.

The aim of our retrospective study was to verify the results of surgical treatment of rectal cancer in a homogeneous case series, evaluating the various factors that can influence the prognosis and long-term results. The prognostic factors taken into consideration were: Duke's stage; grading; colloid component; location of tumour; type of surgical intervention; age; sex; duration of the symptoms; length of normal rectum below the lower border of the tumour correlated to stage and grading. One hundred and sixty-five patients were operated with a radical approach: 50 abdominoperineal resections (APR) and 115 sphincter-saving resections (SSR) were performed. There were 90 males and 75 females. The mean age was 63 years. Total survival was 61.7% after 5 years and 50% after 10 years. In our study neither the age nor the sex, duration of symptoms or location of the tumours proved to have an influence on survival; while Duke's state turned out to be decisive for survival; also the colloid tumour component proved to have a worse prognosis. The 5-10-year survival rate was respectively 53.6% and 49% in the APR and 65.7% and 50.9% in the SSR (p = n.s.). The data we have collected show that APR and SSR operations have analogous efficiency.

Physiology of ileoanal anastomosis with ileal reservoir for ulcerative colitis and adenomatosis coli.

A physiologic and metabolic assessment was carried out on eight patients six months after total proctocolectomy with ileal reservoir for ulcerative colitis and familial adenomatosis coli. All patients were continent and able to defecate spontaneously, stool frequency ranging from two to five per 24 hours. Anal sphincter resting pressures (35 +/- 14 mmHg) and squeeze pressures (88 +/- 24.2 mmHg) were similar to those of a healthy population, with the exception of one patient's complaint of nocturnal mucous leakage per anus. Biopsies of the ileal mucosa of the reservoirs showed a mild inflammation in seven patients; in one a subtotal villous atrophy (plus glandular pattern) was found. Anthropometric measurements, lymphocyte counts, hemoglobin, albumin, transferrin, iron, B12, and folate were normal in all. In the majority of patients there was no evidence of bacterial overgrowth. Vitamin B12 absorption was reduced slightly in only one patient. Lipid absorption (as judged by the 14C-Triolein breath test) was abnormal in three patients. Fecal clearance of alpha 1 antitrypsin as protein losses index was abnormal in three patients. Bile acid malabsorption was the most important ileal dysfunction observed in the patients.