Uniportal thoracoscopy combined with laparoscopy as minimally invasive treatment of esophageal cancer.

A 67-year-old man was referred to our attention for management of esophageal adenocarcinoma, localized at the level of the esophagogastric junction and obstructed the 1/3 of the esophageal lumen. Due to the extension of the disease (T3N1M0-Stage IIIA), the patient underwent neo-adjuvant chemo-radiation therapy and he was then scheduled for a minimally invasive surgical procedure including laparoscopic gastroplasty, uniportal thoracoscopic esophageal dissection and intrathoracic end-to-end esophago-gastric anastomosis. No intraoperative and post-operative complications were seen. The patient was discharged in post-operative day 9. Pathological study confirmed the diagnosis of adenocarcinoma (T2N1M0-Stage IIB) and he underwent adjuvant chemotherapy. At the time of present paper, patient is alive and well without signs of recurrence or metastasis. Our minimally approach compared to standard open procedure would help reduce post-operative pain and favours early return to normal activity. However, future experiences with a control group are required before our strategy can be widely used.

Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.

HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR) genes. The inherited mutation in one allele together with an acquired defect in the other allele of an MMR gene leads to accelerate tumor progression. In this study we analyzed a cohort of 11 subjects belonging to four Sicilian families with HNPCC suspected by molecular analysis of coding regions of hMSH2 (NC_000002) and hMLH1 (NC_000003) genes. Molecular analysis has detected the presence of two mutations in gene MSH2 and one mutation in MHL1 gene. In addition, we found a novel mutation consisting in a G deletion at 914 codon of the exon 16 in the MSH2 gene. This deletion leads to a stop codon due to a frame-shift, resulting in a truncated protein. We extended genetic analysis to the other family members and the same mutation was detected in three sisters and in one of the two healthy daughters. This mutation is correlated with clinical findings revealed in genealogic tree and it represents a novel mutation responsible of HNPCC.