Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management

<p><b>INTRODUCTION</b>Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed.</p><p><b>MATERIALS AND METHODS</b>A search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry's pedigree records.</p><p><b>RESULTS</b>Seven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed.</p><p><b>CONCLUSION</b>Patients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.</p>

Charity colonoscopy event to commemorate the 185th anniversary of Singapore General Hospital

<p><b>INTRODUCTION</b>Colorectal cancer is now the cancer with the highest incidence in Singapore. However, the overall mortality rate is still about 50% because the majority of the patients present at a late stage of disease. A charity event of screening colonoscopy was offered to the public in conjunction with the 185th anniversary of Singapore General Hospital. The aim of this event was to raise awareness about early detection of colorectal cancer and the safety of colonoscopy.</p><p><b>MATERIALS AND METHODS</b>We conducted a one-off free screening event for colorectal cancer using colonoscopy. Four hundred and ninety individuals responded to a multimedia advertisement for the event. Of these, 220 individuals were selected for the screening based on National Guidelines for colorectal cancer screening and financial status.</p><p><b>RESULTS</b>One hundred and fifty-two individuals turned up for the colonoscopy. The median age was 55 years (range, 22 to 82), with 84 males. Significant pathology was found in 33% of the individuals (n = 51). Colorectal polyps were detected in 34 individuals (22%). A total of 45 polyps were removed, with 20 hyperplastic polyps and 25 adenomas. Eight out of 25 adenomas were located proximal to the splenic flexure. Rectal cancer was diagnosed in 1 individual (0.6%). One individual had a large dysplastic rectosigmoid ulcer and refused further intervention. There were no significant complications from any of the colonoscopies.</p><p><b>CONCLUSIONS</b>Colonoscopy is an invaluable screening modality as it has a high pick-up rate for colorectal polyp and cancer in an asymptomatic population. It is also proven to be safe in our study. It has the added advantage over flexible sigmoidoscopy of detecting a significant number of proximal lesions. Also, therapeutic polypectomy can be performed in the same setting.</p>

Cutaneous and subcutaneous metastases of adenocarcinoma of the colon and rectum

<p><b>INTRODUCTION</b>The interesting topic of cutaneous and subcutaneous metastasis from rectal carcinoma is discussed using 3 cases.</p><p><b>CLINICAL PICTURE</b>The first case was a 70-year-old man with T3N2M0 rectal mucinous adenocarcinoma, who developed an inflammatory subcutaneous metastasis at the left scapula 2 years after anterior resection. The second case was a 51-year-old man with T4N2M0 splenic flexure mucinous adenocarcinoma, who developed metastatic disease including a subcutaneous secondary to the back. The third case was a 53-year-old woman who developed vulval recurrence 10 months after abdomino-perineal resection for a low T3N1M0 rectal adenocarcinoma.</p><p><b>TREATMENT</b>All underwent wide resection.</p><p><b>CONCLUSION</b>This entity is rare and usually signifies disseminated disease if found remote from the resection site and warrants a thorough metastatic work up. A high index of suspicion is recommended when encountered with unresolving skin lesions in cancer patients.</p>

Haplotype and linkage analysis in Chinese hereditary mixed polyposis syndrome / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate if hereditary mixed polyposis syndrome (HMPS) locus of two Singapore Chinese HMPS families is identical with the Ashkenazi families.</p><p><b>METHODS</b>Genomic DNA was extracted, multiplex polymerase chain reaction (PCR) was used to amplify 4 microsatellite markers D15S1010, D15S1007, ACTC and D15S118 in 31 individuals from two families. The HMPS locus cosecretion of the markers on 15q13 over a region of 2.8 cM was confirmed by Haplotype and linkage analysis.</p><p><b>RESULTS</b>The disease of haplotype identified in one pedigree was not co-segregated with an affected individual while no definitive disease haplotype could be assigned for the second pedigree. The maximum two-point and multi-point LOD scores at ACTC for the two Chinese families are 0.20 (theta = 0.3) and -5.0 respectively.</p><p><b>CONCLUSIONS</b>Haplotype and linkage analysis indicate that the Ashkenazi haplotypes is not associated with HMPS in Singapore Chinese families, which suggests genetic heterogeneity.</p>