Large mesenteric gastrointestinal stromal tumor in a patient with familial adenomatous polyposis syndrome

We report a case of a 30-year-old man who presented with severe debilitation, anemia and diarrhea over two months. Colonoscopy revealed many (>100) polyps (familial adenomatous polyposis syndrome). Abdominal CT scan showed a large mass at the left upper abdomen in conjunction with the splenic flexure. Total colectomy with mesenteric mass and adjacent small bowel removal and ileoanal pouch was performed. Examination of the resected mesenteric mass showed a gastrointestinal stromal tumor (GIST) with scarce mitosis and infiltration of the adjacent small bowel. We describe for the first time in medical literature the coexistence of familial adenomatous polyposis syndrome and GIST in a 30-year-old man.     

家族性腺瘤性息肉病患者手术后的家庭随访

目的提高家族性腺瘤性息肉病患者的自我护理能力,早期发现家族成员中的新病例。方法对21例家族性腺瘤性息肉病出院患者进行家庭随访,给予相应的护理指导。同时行高危家系调查,绘制家族系谱,总结临床特征,对高危亲属进行相应指导。结果通过家庭随访,提高了患者的术后生活质量,并能正确面对造口,做好造口护理。通过家系调查,发现患者7例,及时进行了治疗。结论家族性腺瘤性息肉病患者手术后进行家庭随访,能提高患者的自我护理能力。通过家系调查,对高危亲属作健康指导,可早期发现病例。     

Gastroduodenal polyps in familial adenomatous and juvenile polyposis

Upper gastrointestinal endoscopy revealed gastroduodenal polyps in 45 (90%) out of 50 patients with familial adenomatosis (FA), and in 11 (92%) out of 12 patients with juvenile polyposis (JP). The polyps in the fundic and corpus regions of the stomach were hamartomatous cystic body gland polyps in 28 (56%), and adenomas in 3 (6%) of the FA patients, while 6 (50%) JP patients had hyperplastic polyps in the corresponding region. The polyps in the gastric antrum and duodenum were adenomas in 6 (12%) and 25 (50%) of the FA patients, respectively, while the polyps of the corresponding regions were hyperplastic in 10 (83%) and 2 (17%) of the JP subjects. One focal adenomatous lesion in an antral hyperplastic polyp, and one duodenal adenoma were found in the JP patients. Furthermore, one duodenal adenocarcinoma was observed among the FA subjects. It is concluded that gastroduodenal polyps belong inherently both to adenomatous and to juvenile varieties of gastrointestinal polyposis, and that these two conditions have characteristic histological patterns and topography of polyps in the upper gastrointestinal tract.     

Thymidine kinase activity in familial adenomatous polyposis.

Thymidine kinase (TK) activity of polyp tissue from patients with familial adenomatous polyposis (FAP) was measured and compared with that of normal colon, sporadic polyp and colorectal carcinoma tissues. Total TK activity in colonic carcinoma was 3-fold that of normal; this increase seems attributable mainly to increased activity of cytosolic TK isozyme activity; the colorectal TK isozymes were separated into two types, i.e., fetal type and adult type isozymes predominantly in, respectively, cytosolic and mitochondrial fractions, by DEAE-cellulose column chromatography. However, FAP polyp samples from 15 patients showed an average elevation of only 1.8-fold over normal. Examined individually, only 5 of the 15 FAP samples showed significant elevations in total TK activity. Furthermore, TK isozyme analysis revealed variable patterns of the cytosolic isozyme activity being elevated in some cases (8 of 15) and remaining low in others. Thus FAP polyps seem to be a heterogenous population with respect to DNA replicative activity, and cytosolic TK isozyme activity may constitute a biochemical marker for the subsequent development of colorectal carcinoma in FAP.     

Care of patients and their families with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a dominantly inherited disorder that is typically characterized by the appearance of multiple colorectal adenomas usually by the teenage years, with a risk of early colorectal cancer approaching 100%. Genetic testing can help determine which family members have the disorder and require surveillance endoscopy. Astute physicians may detect unsuspected FAP in patients with extraintestinal manifestations such as hard or soft cutaneous tumors. Colectomy will prevent cancer but is often necessary before the patient is 20 years old. Postoperative lifelong surveillance is indicated to screen for associated duodenal, thyroid, and rectal or ileal neoplasms. Attenuated FAP variants are less typical and may be confused with other types of familial colorectal neoplasia. Chemoprevention, regression, and other treatment strategies are being developed to improve the management of extracolonic neoplasms and desmoid tumors. A better understanding of the natural history of these FAP-associated phenomena will facilitate the rational selection of interventions. Management guidelines that were recently developed at Mayo Clinic Rochester to provide for uniform care and surveillance are discussed.     

Management of duodenal adenomas in 98 patients with familial adenomatous polyposis.

BACKGROUND AND STUDY AIMS: The advantage of endoscopic surveillance and treatment of duodenal polyposis is still unclear in familial adenomatous polyposis (FAP). The aim of this study was to evaluate the progression patterns of duodenal polyposis and the results of treatment. PATIENTS AND METHODS: In our institution, the 98 FAP patients included in the prospective follow-up study underwent at least one upper endoscopic examination, carried out with few exceptions, by a single surgeon endoscopist. The progression patterns of duodenal polyposis, the cumulative risk of severe duodenal polyposis and duodenal cancer as well as the results of surgical treatment were evaluated during a median follow-up of 11 years. RESULTS: Duodenal adenomas were detected in 78 patients corresponding to a cumulative lifetime incidence of 97%. The stage of adenomatosis progressed in 52 (73 %) of the 71 patients who underwent repeated endoscopies. The cumulative risks of stage IV adenomatosis and duodenal carcinoma were 30% and 4 %, respectively. Excisional treatment through open duodenotomy resulted in significant stage regression but was followed by new progression. In all patients the median interval for progression by one stage varied from 4 to 11 years. CONCLUSIONS: Duodenal adenomas almost invariably occur in FAP; endoscopic surveillance is thus warranted to anticipate severe progression and malignant transformation. Excisional surgical treatment can, however, give only transient stage reduction.     

Results of molecular diagnosis in 30 Austrian families with familial adenomatous polyposis

Familial adenomatous polyposis is a dominantly inherited precancerous condition of the colorectum. The isolation of the responsible gene has facilitated the search for mutation in affected individuals and risk estimation for family members. The aim of our study was the assessment of the disease by molecular biological methods in order to estimate the risk for family members. Blood probes from 30 non-related Austrian families (44 persons affected, 61 at risk) were examined for detection of a defect in the adenomatous polyposis gene by means of the protein truncation test and, if necessary, by linkage analysis. The protein truncation test led to successful identification of the defect gene in 66.7% (20/30 families). In 3 families, the presymptomatic difference between mutation carriers and healthy subjects could only be assessed by linkage analysis. Genetic diagnosis enabled us to detect the disease before the onset of clinical symptoms in 16 persons at risk, 37 could be identified as genetically healthy. In 8 persons at risk out of 5/30 families we were unable to identify a defect gene by the methods used until now. In conclusion, we have succeeded in establishing genetic diagnosis of familial adenomatous polyposis using the protein truncation test in Austria. Our method of genetic risk estimation is an important step in Austria towards earlier diagnosis and well-timed therapy management, and helps to exclude persons at risk who are genetically healthy from the laborious screening program.     

腹腔镜全结肠直肠切除术治疗家族性腺瘤性息肉病病人的护理

笔者回顾分析8例家族性腺瘤性息肉病病人经腹腔镜下全结肠直肠切除术治疗的围手术期护理。认为术前加强健康教育、心理护理、心肺功能训练、肠道清洁排空;术后加强营养支持,术中截石位并发症的观察,加强吻合口瘘、排尿困难、腹泻等并发症的预防和护理,是确保手术成功、促进病人早日康复和提高生活质量的关键。     

Clinical features and current progress of familial adenomatous polyposis

Familial adenomatous polyposis(FAP) is inherited disease as an autosomal dominant trait in which the large intestine is diffusely carpeted by numerous adenomas with a high incidence of colorectal cancer. Current clinical aspects and biological progress were discussed with emphasis on diagnostic imaging, natural histories of gastrointestinal polyps and intra-mandibular osteomas. Genotype-phenotype correlation including attenuated type and function of APC gene, identified in 1991 as a responsible tumour suppressor one for FAP and Gardner syndrome, were also reviewed.     

Development of an aggressive depressed cancer in a case of familial adenomatous polyposis

In 1977, Kariya et al. reported a case of a small depressed cancer in a patient with familial adenomatous polyposis (FAP) raising the possibility that not all cancers in FAP develop from polypoid adenomas. It is now becoming widely recognized that colonic adenomas may appear as flat or depressed lesions. However, colorectal cancers developing in patients with familial adenomatous polyposis (FAP) are still thought to evolve from adenomatous polyps following the polyp-carcinoma sequence. We report the case of a patient with FAP in whom rectal carcinoma developed 23 years after subtotal colectomy and ileorectal anastomosis. We suggest that this malignancy may have developed de novo because of the depressed shape of the lesion and the aggressive growth pattern. This case raises the possibility that carcinomas may not always evolve from polyps in FAP. Aggressive cancers with a depressed appearance should be searched for when surveying the rectal stump in patients with FAP.     

Role of suindac in the treatment of familial adenomatous polyposis coli

Familial adenomatous polyposis is a rare genetic disease characterized by the development of colorectal adenomatous polyps. Extracolonic digestive and extra-digestive manifestations can also appear. Inevitably, colorectal cancer occurs if a colectomy is not performed. Sulindac is an indolic non-steroidal anti-inflammatory indole drug which decreases colonic tumoral proliferation. The different trials published since 1983 have shown that sulindac caused regression of colorectal adenomatous polyps, but it does not affect the other manifestations of familial adenomatous polyposis. However, colorectal polyps recurred after cessation of this therapy; the effect of long-term sulindac therapy is unknown; and sulindac may cause, as a non-steroidal anti-inflammatory drug, digestive side-effects. Moreover, treatment with sulindac does not completely eliminate the risk of cancer. For patients with familial adenomatous polyposis, total colectomy and ileal pouch-anal anastomosis is the recommended procedure for most patients. However, sulindac is useful for patients who have had subtotal colectomy and ileorectal anastomosis, if these patients have only a few rectal stump polyps and accept regular and strict follow-up of the rectal stump. Sulindac is also indicated for patients who have not undergone colectomy because surgery is contraindicated or has been refused.     

家族性腺瘤性息肉病的临床研究进展

该文对家族性腺瘤性息肉病（familial adenomatous polyposis,FAP）近年来的临床诊断、预防和治疗等方面的现状及最新研究进展进行了综述。FAP为肿瘤的研究提供了一个理想的模型,其研究成果是进一步揭示肿瘤发生机制,并进行肿瘤预测、早期诊断和有效防治的重要依据。     

Feasibility of double-balloon enteroscopy-assisted chromoendoscopy of the small bowel in patients with familial adenomatous polyposis

BACKGROUND AND STUDY AIMS: Patients with familial adenomatous polyposis (FAP) are at increased risk of developing duodenal and jejunal adenocarcinomas. The aim of this study was to assess the usefulness of double-balloon enteroscopy- (DBE-) assisted chromoendoscopy for the detection and characterization of small-bowel polyps in patients with FAP. PATIENTS AND METHODS: We performed a prospective evaluation of patients with clinically and genetically proved FAP who were enrolled in an endoscopic surveillance program. DBE was performed using a Fujinon intestinoscope (FN 450P 5/20; Fujinon Corp., Omiya, Japan), and chromoendoscopy was performed using indigo carmine. The severity of small bowel polyposis was based on the Spigelman-Saurin classification. RESULTS: Nine patients underwent DBE-assisted chromoendoscopy. Small-bowel polyps (including papillary adenomas) were detected in seven patients (88 %). The mean depth of small-bowel insertion was 180 cm (range 120-320 cm). The mean Spigelman-Saurin score was 4.6 (range 0-8). Jejunal polyps were detected in six patients (67 %). Chromoendoscopy aided in the detection of additional polyps in two patients. In one patient the polyps were flat and only visible with chromoendoscopy (biopsy confirmed these to be adenomas). Jejunal polyps and advanced neoplasms were more frequent in patients with APC gene mutations in exon 15. The following endoscopic therapies were performed: polypectomy (n = 1), duodenal mucosectomy (n = 1), and ablation therapy with argon plasma coagulation (n = 2). CONCLUSIONS: DBE was found to be a helpful method for the evaluation of small-bowel polyps in patients with FAP. DBE-assisted chromoendoscopy was of further assistance for the detection of jejunal polyps.