家族性腺瘤性息肉病癌变危险因素分析

目的 探讨家族性腺瘤性息肉病(FAP)相关性结直肠癌及其癌变危险因素,为监测预防FAP癌变提供依据。方法 收集我院确诊的65例FAP患者,根据患者是否发生癌变,分为FAP癌变组(35例)与未癌变组(30例),统计分析FAP相关性结直肠癌发生的危险因素。结果 在65例FAP患者中,35例患者经病理确诊发生癌变,癌变率为53.85%。发病年龄、腺瘤数量、腺瘤大小及腺瘤组织学类型是影响FAP癌变的相关因素(P<0.05),且和癌变呈显著正相关。结论 FAP癌变倾向极高,发病年龄、腺瘤数量、腺瘤大小及腺瘤组织学类型是影响FAP癌变的相关因素,与癌变呈正相关。     

Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening

Two brothers with hepatoblastoma were noted to have a family history of early onset colon cancer. Genetic testing of the younger brother revealed a deletion in exon 15 of the adenomatous polyposis coli (APC) gene (2710-2711delAG), consistent with a diagnosis of familial adenomatous polyposis (FAP). We review the clinical and molecular aspects of the relationship between hepatoblastoma and FAP, and the implications for diagnostic testing and cancer screening in affected patients.     

Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

BACKGROUND: Hepatoblastoma (HB) is the most frequent liver tumor in childhood, occurring in the first few years of life. Surgery combined with chemotherapy has resulted in dramatic improvements in prognosis. However, even today, about one quarter of affected children do not survive the disease. Compared to the general population, the risk of HB is 750-7,500 times higher in children predisposed to familial adenomatous polyposis (FAP), an autosomal-dominant cancer predispostion syndrome caused by germline mutations in the tumor suppressor gene APC. Only limited data exist about the frequency of APC germline mutations in cases of apparently sporadic HB without a family history of FAP. PROCEDURE: In our sample of 1,166 German FAP families, all known cases of HB were registered. In addition, 50 patients with apparently sporadic HB were examined for APC germline mutations. RESULTS: In the FAP families, seven unrelated cases of HB are documented; three had been detected at an advanced stage. In patients with apparently sporadic HB, germline mutations in the APC gene were identified in 10%. CONCLUSIONS: These data raise the issue of the appropriate screening for HB in children of FAP patients. To date, the efficiency of surveillance for HB is unclear. In Beckwith-Wiedemann syndrome (BWS), recent studies suggest an earlier detection of both Wilms tumor and HB by frequent screening. We discuss the rationale and implications of a screening program; besides the examination procedure itself, screening for HB in children of FAP patients would have important consequences for the policy of predictive testing in FAP. In a substantial fraction of sporadic HB, the disease is obviously the first manifestation of a de novo FAP. These patients should be identified by routine APC mutation screening and undergo colorectal surveillance thereafter.     

Synchronous rectal and colon cancer caused by familial polyposis coli during pregnancy

The management of colon and rectal cancer during pregnancy is controversial and challenging. Rectal or colon cancer during pregnancy is a very rare event. A 29-year-old woman, pregnant with her second child, was diagnosed with rectal cancer causing bowel obstruction and synchronous colon cancer during the 27th week of gestation. Both cancers occurred as a result of familial polyposis. This is the first case of synchronous rectal and colon cancer caused by familial polyposis during pregnancy reported in the published literature. We discuss the therapeutic interventions and the surgical management of the cancer in relation to the gestation.     

鼻息肉的发病机理

目的：加深对鼻息肉发病机理的认识与理解；方法；阅读国内外鼻息肉发病机理的文献，进行总经地，结果：目前认为鼻息肉的发病机理为多因素学说；结论；鼻息肉发病机理可为临床治疗鼻息肉提供理论基础与依据。     

The analysis of clinical characteristics of the chronic rhinosinusitis: complicated and uncomplicated form

The objective of our study was to analyze the intensity of subjective symptoms and objective findings of endoscopy and CT scanning in chronic rhinosinusitis, in the groups with and without nasal polyps. To evaluate the intensity of subjective symptoms visual analogue scale (VAS) was used, while scores were obtained by adding grades. Endoscopic finding was given in scores recommended by Lanza and Kennedy and CT results were presented by Lund-Mackay scoring system. The study included 90 consecutive adult patients, 47 males (52%) and 43 females (48%), mean age 45 years. The group with chronic rhinosinusitis without nasal polyps (uncomplicated form) consisted of 30 patients, while the group with polyps (complicated form) included 60 patients. Comparing mean intensity values of all subjective symptoms between these two groups we found out that nasal obstruction, nasal secretion and hyposmia were significantly more manifested in the polyp group (P < 0.01). Facial congestion was also more manifested in the polyp group (P < 0.05). Mean score value of major symptoms was 35.55 in the polyp group, and 23.13 in the group without polyps (P < 0.01). Mean value of total symptom scores was 48.68 in the polyp group, and 35.00 in the group without polyps (P < 0.01). Endoscopic score was approximately 9.03 in the polyp group, and 2.43 in the group without polyps (P < 0.01). CT score was 16.05 on an average in the polyp group, and 4.37 in the group without polyps (P < 0.01). Chronic rhinosinusitis complicated by nasal polyposis is characterized by higher degree of nasal obstruction, nasal secretion, hyposmia and facial congestion, which results in higher score of major and total score of symptoms, respectively. This form is also characterized by worse objective findings, which is reflected in higher endoscopic and CT scores.     

ASA disease: the clinical relationship of nasal polyposis to ASA intolerance

Summary We studied the complex relationship between nasal polyposis and ASA (acetylsalicylic acid) intolerance in 154 patients with nasal polyps. The clinical histories of all patients were reviewed, and diagnostic tests for immune or allergic causes and the responsiveness of patients to challenges with ASA-substitutive drugs were analyzed. A third of our patients tested were found to have positive personal histories of atopy and 35% showed ASA intolerance. Although 40% had bronchial asthma, only 16.8% of all patients had positive tests for allergy. We were unable to find a specific mechanism to explain the relationship between nasal polyposis and ASA intolerance and further investigations are still required.