Uses of a familial adenomatous polyposis registry.

OBJECTIVES: To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register. DESIGN: The establishment and descriptive analysis of the prospective database of the FAP registry. SETTING: University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka. PATIENTS: Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk. INTERVENTIONS: The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up. RESULTS: Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age - 32 years) and 27 symptomatic (median age - 34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees. CONCLUSIONS: A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.

Patients with rectal cancer having neoadjuvant chemoradiation do not have increased complications of ileostomy closure.

OBJECTIVES: It is conceivable that reversal of an ileostomy after low anterior resection following neoadjuvant therapy (NAT) may involve anastomosis of small bowel exposed to irradiation. The aim was to evaluate peri-operative complications of ileostomy closure and to compare the histology of ileal mucosa in excised stomas in patients who received NAT with those without NAT. METHODS: Twenty patients who underwent rectal excision following NAT for cancer, were compared with 20 control patients who underwent rectal excision without NAT. All patients received a diverting loop ileostomy which was subsequently reversed with excision of the ileostomy. The clinical outcome and histopathological features after reversal were evaluated. RESULTS: There was no significant difference with regard to peri-operative complications such as post-operative deaths related to ileostomy closure, anastomotic leakage, retraction of stoma or small bowel fistulae. Resection margins revealed no significant difference in crypt distortion, depletion of mucin, acute inflammation, chronic inflammation and infiltration of eosinophils following NAT compared with controls. CONCLUSIONS: Neoadjuvant therapy for rectal cancer does not result in higher morbidity following closure of diverting loop ileostomy or result in significant inflammatory changes in the ileum. Therefore ileostomy closure is as safe in those with preoperative radiotherapy as in those without neoadjuvant therapy.

Detection of micrometastases in lymph nodes using reverse transcription polymerase chain reaction (RT-PCR) for cytokeratin 20 (CK-20)--a pilot study.

OBJECTIVES: The aim of the study was to detect micrometastases in lymph nodes in patients with rectal cancer following neoadjuvant therapy, staged node negative by routine histology. PATIENTS AND SETTING: Mesenteric lymph nodes from patients who have undergone neoadjuvant therapy for rectal cancer were harvested during surgery. Nodes were bisected and one half was sent for haematoxylin and eosin (H&E) staining and evaluated by a single pathologist. The other half was examined for CK20 by RT-PCR. The technique was validated by testing mesenteric lymph nodes with known metastases and nodes from patients without cancer. Twenty one lymph nodes from 6 patients (median age 46 years, range 25-55) which were negative for tumour deposits by H & E stain were assessed for micro-metastases. RESULTS: All 21 nodes which were histologically negative for metastases were positive for micrometastases. Two nodes with known metastases were positive for CK20 and 3 nodes from non cancer patients were negative for CK20. CONCLUSIONS: Detection of CK20 is accurate in identification of rectal cancer micro-metastasing to lymph nodes. Assessment of nodes by H & E histology risks under staging.

Sexual and urinary dysfunction following rectal dissection compared with segmental colectomy.

INTRODUCTION: The aim of this study was to assess the impact of nerve sparing surgery and major abdominal surgery on sexual and urinary function in men and women with colorectal cancer undergoing rectal dissection and segmental colectomy. METHOD: Forty-eight patients (group A: 22 males, 26 females; median age 55 years) undergoing rectal dissection were compared with 24 having segmental colectomy (group B: 12 male, 12 female; median age 55 years). Preoperative data were also compared with age- and gender-matched controls (group C). RESULTS: More patients after rectal dissection vs segmental colectomy had urinary tract infections [15 (31%) vs 3 (17.5%), P = 0.04]. At 37 months, urinary dysfunction after rectal excision was seen in 29 (60%; 20 men) vs nine (37.5%; eight men) after segmental colectomy. Postoperative urinary symptoms were significant in group A, but not in group B (pre: vs post; groups A and B: poor stream--13%vs 38%, P = 0.001 and 21%vs 21%, P = NS; incontinence--4.2%vs 17%, P = 0.008 and 8%vs 8%, P = NS; hesitancy--13%vs 35%, P = 0.034 and 17%vs 21%, P = NS). Sexual health was worse after rectal excision compared with segmental colectomy (men--62.5%, women--25%vs 44% of men) respectively. Erectile dysfunction was the chief cause (rectal excision--50%vs segmental colectomy - 33%). After rectal excision, 6% of women had dyspareunia and 19% reported reduced orgasm but none after segmental colectomy. Conclusion More men than women had urinary and sexual impairment after rectal excision than after segmental colectomy. Its aetiology is multifactorial.

Complications of loop ileostomy and ileostomy closure and their implications for extended enterostomal therapy: a prospective clinical study.

INTRODUCTION: Patients who have a temporary loop ileostomy have impaired quality of life. Complications associated with a loop ileostomy or ileostomy closure will impair patients' quality of life further and require extended enterostomal therapy. We performed a prospective audit of loop ileostomy to ascertain the nature of the workload that may be created with ileostomy-related complications. PATIENTS AND METHODS: One hundred and forty patients (67 males, 73 females, median age 50 years, range 5-90 years) who received a temporary loop ileostomy were analysed after completion of proformas on a prospective basis between 1999 and 2006. RESULTS: Operation was performed for rectal cancer 100 (71%), familial adenomatous polyposis 14 (10%), ulcerative colitis 21 (15%) and for trauma or Hirchsprung's disease 5 (3%). Complications of loop ileostomy were: retraction 1 (0.7%), ileostomy flux 11 (8%), stomal prolapse 1 (0.7%), parastomal hernia 1 (0.7%), paraileostomy abscess 4 (3%) and severe skin excoriation 9 (6%). The loop ileostomy was reversed in 117 (83%) at a median (range) of 13 weeks (1-60). Ileostomy closure-related complications were: small bowel fistula 1 (0.9%), small bowel obstruction 5 (4.3%) and a stitch sinus in 1 (0.9%). Five women developed recto-vaginal fistula (n=3; 2.6%), pouch-vaginal fistula (n=1; 0.9%) and pouch-anal fistula (n=1; 0.9%) that required extended enterostomal therapy, after loop ileostomy reversal. CONCLUSION: Nineteen percent of patients following creation of a loop ileostomy and 10.5% of patients after reversal of the ileostomy required extended enterostomal care by a specialized enterostomal therapist, which supported resumption of a normal life.