Hereditary Colorectal Cancer Syndromes in Hong Kong: a Registry's Perspective

Established in 1995, the Hereditary Gastrointestinal Cancer Registry aimed at cancer prevention due to hereditary colorectal cancer syndromes in Hong Kong through early detection, timely treatment, education and ongoing research. This article details the history, structure and work of the Registry. A summary is also provided on the results of various research work conducted by the Registry which facilitates the clinical management of hereditary colorectal cancer syndromes in Hong Kong Chinese families

Surgical management and outcome of rectal carcinoids in a university hospital

Abstract Background: Rectal carcinoids are an uncommon entity comprising only 1%-2% of all rectal tumors. Rectal carcinoids are frequently diagnosed during colonoscopy, but management after polypectomy is still controversial. The aims of this study were to review the surgical procedures for rectal carcinoids and to compare the outcomes of patients after different treatment modalities in a university hospital in Hong Kong. Methods: All rectal carcinoids diagnosed between January 2003 and September 2012 were reviewed retrospectively, including clinicopathological characteristics, their management, and surgical outcomes. Results: There were 54 patients with a median age of 60 years, and 32 were males (59.3%). All patients underwent colonoscopy, and the most had rectal bleeding (53.7%). Two patients were diagnosed incidentally in the surgical specimens of rectal tissues. Eighteen patients were diagnosed to have rectal carcinoids after snaring polypectomy, and no further intervention was required. Twenty-five patients had local resection either by means of transanal resection or transanal endoscopic operation. Radical resection was performed in seven patients in which one had T3N1 disease and the others did not have any lymph node metastasis. In the median follow-up of 30 months (10-108 months), there was no recurrence in the "incidental" or post-polypectomy group. However, two patients with transanal resection and two patients with radical resection developed hepatic metastases after 13-24 months post-treatment. The 5-year overall survival was 100% in patients having snaring polypectomy only, 83% for those with local resection, and 63% in patients who underwent radical surgery (p = 0.04)

Breast Carcinoma in Chinese Women: Does Age Affect Treatment Choice and Outcome?

Age is a known risk factor for breast cancer behaviour. We studied the relationship of age with clinical characteristics, tumour pathology, therapeutic options and outcome in an affluent Asian population. Methods: From 2003 to 2008, data on newly diagnosed breast carcinoma patients under the care of the multidisciplinary breast cancer team based at a private hospital in Hong Kong were collected prospectively. Patients were divided into three groups: age < 40 years (group I), 41–69 years (group II), and ≥ 70 years (group III). Results: There were 2,079 patients: 334 in group I, 1,538 in group II and 148 in group III. The clinical presentation and tumour stages were similar. Younger patients had higher tumour grading (p = 0.000) and more lymphovascular permeation (p = 0.011). For older patients, combination therapy was employed less frequently (p < 0.0005), and more radical resection with less reconstructive procedures were performed (p = 0.000). The 3-year disease-free survival was 97.8% and there was no difference between the three groups. Conclusion: Although breast cancer in younger Chinese patients was more aggressive pathologically, the differences between clinical presentation, tumour staging and survival were similar. Treatment strategies should follow the clinical condition of the patient rather than age alone

Inguinal canal angioleiomyoma: case report of a rare disease entity within inguinal canal

Abstract Background Angioleiomyoma is an uncommon benign soft tissue tumor and originates from the vascular smooth muscle. It often causes pain and is rarely found in inguinal region. We present a rare case of inguinal canal angioleiomyoma of a female patient who suffered from right groin pain for 4 years and mimicking inguinal hernia clinically. Presentation of case A 53-year-old Chinese female patient presented with 4-year history of right groin pain which was exacerbated by movement. Magnetic resonance imaging was performed in view of atypical presentation and absence of cough impulse. Inguinal canal was subsequently explored by open approach and the mass was found arising from the posterior wall of the inguinal canal and measured 5.2 cm × 3.8 cm. The posterior wall was repaired by Bassini approach after the mass was resected en-bloc. Inguinal pain was resolved and no hernia was found during follow-up. Pathology of the resected specimen confirmed angioleiomyoma with clear resection margins. Conclusion This is the first report of a case of angioleiomyoma of the inguinal canal, which presents as a painful mass. Magnetic resonance imaging should be considered when presenting history and physical examination does not confirm with the diagnosis of inguinal hernia. After inguinal canal exploration, suture or mesh repair should be performed to prevent weakening of posterior wall leading to inguinal hernia

GJC2 Missense Mutations Cause Human Lymphedema

Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.5). We hypothesize that missense mutations in GJC2 alter gap junction function and disrupt lymphatic flow. Until now, GJC2 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema