Giulia Montalto

Genetic Alterations in Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Clinical Implications and Suggestions for Early Detection

AbstractGerm-line mutations of the adenomatous polyposis ( APC) gene, responsible for familial adenomatous polyposis (FAP) were analyzed in 15 patients with FAP-associated papillary thyroid carcinomas: 13 had the mutation between codons 778 and 1309 (exon 15), 1 at codon 593 (exon 14), and 1 at codon 140 (exon 3). Therefore APC gene mutations clustered in the genomic area associated with congenital hypertrophy of the retinal pigment epithelium (CHRPE) (codons 463–1387). Ocular patches were documented in 12 patients. In particular, 4 of the 15 patients, all women with a mean age of 23.5 (range 20–32), were found during the study of 15 consecutive kindreds who had undergone systematic screening for extracolonic manifestations. Three of them belonged to the same kindred and were asymptomatic. These four patients were also screened for loss of heterozygosity of APC in the thyroid tumoral tissue. No biallelic inactivation of the APC gene was found. In contrast, three of these four patients had activation of theret-PTC oncogene. In particular, there was activation of the ret-PTC1 isoform, a chimeric gene resulting from fusion of a gene named H4 with the RET gene. On histologic examination, three of the four patients showed Hashimoto-like lymphocytic infiltration. Present data suggest that: (1) the incidence of FAP-associated thyroid cancer probably has been underestimated in the past; (2) intensive screening could detect a larger than expected number of thyroid carcinomas; (3) systematic screening is recommended in patients with ocular patches and genetic mutation in exon 15; (4) Hashimoto-like findings do not exclude carcinoma but are a frequent accompanying finding; (5) despite frequent multicentricity and early lymph node involvement, FAP-associated thyroid tumors seem to have an excellent prognosis, in particular those showing ret-PTC activation.

New biliary endoprosthesis less liable to block in biliary infections: description and in vitro studies.

OBJECTIVE To test in vitro stents made from a new biomaterial that is less liable to encourage adhesion of bacteria that may lead to blockage of the stent. DESIGN Laboratory experiment. SETTING University hospital, Italy. MATERIAL 15 polyethylene biliary endoprostheses that had been removed endoscopically a mean of 151 days (range 55416) after insertion. PUPA, a biomaterial that contains polyamidoamine cross-linked to polyurethane chains. This can bind large quantities of heparin and HyalSx (hyaluronic acid at a different stage of sulphation) in a stable fashion. MAIN OUTCOME MEASURES Incidence of blockage and growth of pathogens in the polyethylene biliary prostheses. Adhesion of pathogens to PUPA in vitro on electron microscopy. RESULTS 12 of 15 polyethylene prostheses were blocked by brown concretions composed of calcium bilirubinate, palmitate, and little cholesterol. All concretions grew more than one pathogen, and the growth always included Escherichia coli. Of the 5 PUPA stents tested, only 1 had bacteria sticking to their surfaces. CONCLUSION These results confirm previous studies that showed that HyalSx appreciably inhibited the adhesion of bacteria and is therefore a suitable material for the manufacture of biliary stents.

Hepatolithiasis, cystic dilatation of bile ducts and the variable risk of cholangiocarcinoma. Re-evaluation of an old problem

Patients and methods A review of the most recent findings concerning hepatolithiasis, cystic bile duct dilatation and the variable risk of cholangiocarcinoma is reported. In particular, data are reported concerning an Italian series of 107 out of 6745 consecutive patients with bile tract surgery, who had gallstones (GS) within the intrahepatic ducts. Fifteen of them had cystic dilatation of bile ducts (CBDD). All these patients had systematic bile culture and stone analysis by IR spectroscopy. The 107 patients underwent a follow-up period ranging between 1 and 20 years.