Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience

BACKGROUND: Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations early in childhood seen, present in 90% of FAP population and is easy to detect. FINDINGS: Patients diagnosed with FAP and at risk first degree family members were screened for CHRPE using a slit lamp and indirect ophthalmoscopy. The retina of 17 diagnosed FAP patients and 13 individuals at risk were examined. The site and size of CHRPE lesions were documented. Thirteen (76%) of 17 FAP patients (male-10, female – 7, median age - 30 years; range 15-55 years) had CHRPE lesions; seven (54%) had bilateral CHRPE lesions and six (46%) had unilateral lesions. A single lesion was detected in 6 (46%) while 7 (54%) patients had multiple lesions. Of 13 at risk individuals (7- male, female-6 ; median age 34; range 16-52 years), one was positive for CHRPE and 12 were free of retinal lesions. The sensitivity of the presence of a CHRPE lesion in association with colonic polyps in FAP was 76%, specificity 92%, positive predictive value 93%, and negative predictive value 75%. CONCLUSIONS: This study found a high sensitivity and specificity for a CHRPE lesion to be associated with colonic polyps of FAP and hence a useful screening method in a burdened health-care system. The method is minimally invasive and simple and would be of particular value in screening children at risk for FAP

Overall Survival of Elderly Patients Having Surgery for Colorectal Cancer Is Comparable to Younger Patients: Results from a South Asian Population

Introduction. There has been a continuous debate on whether elderly patients with colorectal cancer (CRC) fair worse. The aim of this study is to assess the thirty-day mortality (TDM) and overall survival (OS) of elderly patients undergoing surgery for CRC. Method. OS between two groups (≥70 versus <70 years) having surgery for CRC was analyzed. Demographics, tumour characteristics, and serological markers were considered as independent factors. Multivariable analysis was done using the Cox proportional hazard model. We also compared overall survival in the elderly versus those <60 and <50 years. Results. 477 patients, 160 elderly (55% male; median age 75, range 70–89) and 317 younger patients (49% male; median age 55, range 16 to 69), were studied. Overall survival in CRC patients ≥70 is comparable to <70 (P=0.45) and <60 years (P=0.08). Poor OS was observed in the ≥70 versus <50 years (P=0.03). TDM in the elderly was poor (P<0.05). Postoperative cardiac complication was the only determinant affecting survival in the elderly (P=0.01). Conclusion. OS in elderly CRC patients having surgery is not worse compared to <70 and <60 years although the TDM was higher. Postoperative cardiac complications significantly affected OS in those ≥70 compared to those <50 years. Chronological age alone should not negatively influence surgical decision-making in the elderly

Hepaticocystic duct and a rare extra-hepatic "cruciate" arterial anastomosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>The variations in the morphological characteristics of the extra-hepatic biliary system are interesting.</p> <p>Case presentation</p> <p>During the dissection of cadavers to study the morphological characteristics of the extra-hepatic biliary system, a 46-year-old male cadaver was found to have drainage of the common hepatic duct drains directly into the gall bladder neck. The right and left hepatic ducts were not seen extra-hepatically. Further drainage of the bile away from the gallbladder and into the duodenum was provided by the cystic duct. Formation of the common bile duct by the union of the common hepatic duct and cystic duct was absent. Further more the right hepatic artery was found to be communicating with the left hepatic artery by a "bridging artery" after giving rise to the cystic artery. An accessory hepatic artery originated from the "bridging artery" forming a "cruciate" hepatic arterial anastomosis.</p> <p>Conclusion</p> <p>Combination of a Hepaticocystic duct and an aberrant variation in the extra-hepatic arterial system is extremely rare.</p

The pattern of KRAS mutations in metastatic colorectal cancer: a retrospective audit from Sri Lanka

Abstract Objective Activating mutations in the KRAS gene, found in approximately 53% of metastatic colorectal cancer (mCRC) cases, can render epidermal growth factor receptor (EGFR) inhibitors ineffective. Regional differences in these mutations have been reported. This is the first study which aims to describe the pattern of KRAS mutations in a Sri Lankan cohort of mCRC patients. Results The KRAS genotypes detected in mCRC patients which have been maintained in an anonymized database were retrospectively analyzed. Of the 108 colorectal tissue samples tested, 25 (23.0%) had KRAS mutations. Overall, there were 68 (63.0%) males and 40 (37.0%) females. Among the KRAS positive cases, there were 14 (56.0%) males and 11 (44.0%) females. Their age distribution ranged from 29 to 85 years with a median age of 61 years. There were 15 patients (60.0%) with point mutations in codon 12 while 10 (40.0%) had a single mutation in codon 13. The most common KRAS mutation identified was p.Gly13Asp (40.0%), followed by p.Gly12Val (24.0%). Other mutations included p.Gly12Cys (12.0%), p.Gly12Ser (12.0%), p.Gly12Asp (8.0%), and p.Gly12Arg (4.0%). The codon 13 mutation was a G>A transition (40.0%), while G>T transversions (32.0%), G>A transitions (24.0%), and G>C transversions (4.0%) were found in the codon 12 mutations. The frequency of KRAS mutations was similar to that reported for Asian patients. However, in contrast to several published studies, the G>A transition in codon 12 (c.35G>A; p.Gly12Asp), was not the most common mutation within codon 12 in our cohort. This may be a reflection of the genetic heterogeneity in the pattern of KRAS mutations in mCRC patients but valid conclusions cannot be drawn from these preliminary findings due to the small size of the study sample

Synchronous liver metastasis in colorectal cancer in Sri Lanka

Abstract Objective To assess the incidence of synchronous colorectal liver metastasis in patients referred to a tertiary referral center in Sri Lanka and to evaluate the differences in the clinicopathological features of patients with and without synchronous metastasis. Methods Records of 438 patients were retrospectively analyzed. Patients were classified into metastatic group (n=34, 8%) and non metastastatic group (n=404, 92%). In the two groups macroscopic features compared were: tumor size (2 cm, 2-5 cm, and &gt;5 cm), site of primary tumor and side of liver involved. Carcinoembryonic antigen (CEA) levels were recorded. At microscopy, tumor differentiation, invasion and nodal status were evaluated. Results The rectum was the primary site of the tumor in a majority (60%) of patients. There was no difference in the distribution of the primary site and size of the tumor, pathological stage, lymphatic infiltration and the degree of tumor differentiation in two groups (p&gt;0.05). Patients with metastasis had higher levels of CEA, higher frequency of vascular infiltration and N3 nodes involved (p&lt;0.05). Conclusion The incidence of synchronous colorectal liver metastasis seems to be lower in our patients. Association of higher CEA level, advanced nodal stage and presence of vascular invasion needs to be further assessed with risk of developing metachronous liver metastasis. Keywords Colonic neoplasms . Liver neoplasms/surgery Carcinoma of the large bowel is the fourth commonest cancer worldwide Methods Data on 438 patients, who were registered in the University of Kelaniya colorectal cancer database from 1999 to 2009, were analyzed retrospectively. A synchronous metastatic deposit was defined as a liver lesion detected during preoperative work-up (abdominal ultrasound scan and computed tomogram) or at the time of surgery. Patients were classified into two groups based on presence or absence of synchronous liver metastasis. Macroscopic features assessed were: tumor size (2 cm, 2-5 cm, and &gt;5 cm), site of primary tumor and side of liver involved. Carcinoembryonic antigen (CEA) levels were recorded. At microscopy, tumor type, invasion and nodal status were evaluated Statistical analysis was done by comparison of proportions using Chi square list. A p value &lt;0.05 was considered significant. Results The 438 patients (51.8%, n=227) had a mean age of 58 (SD 14.5) years. Of these, 405 patients underwent colonic resection, and 23 underwent colostomy for decompression