Ampullary carcinomas of the duodenum are uncommon. Moreover, the diversity in the clinical outcomes of these patients makes it difficult to interpret previous studies and clinical trial results. The difficulty in proper staging of ampullary carcinomas, especially with regard to the T category of the tumor in the TNM system, reflects the anatomic complexity and non-uniform histopathologic subtypes. One major reason for this difficulty in interpretation is that the tumors may arise from any of the three epithelia (duodenal, biliary, or pancreatic) that converge at this location. Generally, ampullary carcinomas are classified into intestinal and pancreaticobiliary types based on morphology and immunohistochemical features. While many studies have described their specific characteristics and clinical impact, the prognostic value of these subtypes is controversial. In recent years, whole-exome sequencing analyses have advanced our understanding of the genomic overview of ampullary carcinoma. Gene mutations serve as prognostic and predictive biomarkers for this disease. Therefore, basic knowledge of the genomic profile of ampullary carcinomas is required for surgeons to understand how best to apply precision medicine as well as surgery and adjuvant therapies. This review provides an overview of the current basic and clinical issues of ampullary carcinoma.

The purpose of this review was to examine the historical roots of endoscopic management of ampullary lesions and explore emerging data on improved techniques, technologies, and outcomes. Of specific interest was answering whether there exists a reasonable body of data to support one resection technique or strategy above others.

Review of recent literature suggests the continued use of endoscopic ampullectomy is a safe and effective means of curative treatment of ampullary adenomas. Complications are relatively infrequent and complete endoscopic resection is possible in a majority of cases, with proper patient and lesion selection. Greater than 2 decades of experience with endoscopic ampullectomy have shown this to be a viable, well-tolerated, and highly effective means of treating ampullary adenomas. While few concrete guidelines exist to advise endoscopists on the ideal technique for resection, experience, patient selection, and prior planning can greatly influence the technical and clinical success of endoscopic ampullectomy.

The limited accuracy of endoscopic biopsy in detecting high-grade dysplasia or adenocarcinoma within ampullary adenoma or dysplasia has been reported. The natural history of ampullary dysplasia is also unclear, and there are no established guidelines to determine which patients with ampullary dysplasia require resection versus surveillance endoscopy. DNA flow cytometry was performed on 47 ampullary biopsies with low-grade dysplasia, 18 high-grade dysplasia, and 23 negative for dysplasia, as well as 11 cases of ampullary adenocarcinoma. Abnormal DNA content (aneuploidy or elevated 4N fraction > 6%) was identified in 9 (82%) of adenocarcinoma, 13 (72%) of high-grade dysplasia, 7 (15%) of low-grade dysplasia, and none (0%) of non-dysplastic mucosa. One-, 2-, and 7-year detection rates of high-grade dysplasia or adenocarcinoma in low-grade dysplasia patients with abnormal DNA content were 57%, 86%, and 88%, respectively, whereas low-grade dysplasia patients in the setting of normal DNA content had 1-, 2-, and 7-year detection rates of 10%, 10%, and 10%, respectively. The univariate and multivariate hazard ratios (HRs) for subsequent detection of high-grade dysplasia or adenocarcinoma in low-grade dysplasia patients with DNA content abnormality were 16.8 (p = <0.01) and 9.8 (p = <0.01), respectively. Among the 13 high-grade dysplasia patients with DNA content abnormality, 5 patients (38%) were subsequently found to have adenocarcinoma within a mean follow-up time of 3 months, whereas only 1 (20%) of the remaining 5 patients in the setting of normal DNA content developed adenocarcinoma in a month (HR = 2.6, p = 0.39). The overall 1- and 2-year detection rates of adenocarcinoma in all high-grade dysplasia patients (regardless of flow cytometric results) were 34% (95% confidence interval = 16-63%) and 47% (95% confidence interval = 23-79%), respectively. In conclusion, the majority of low-grade dysplasia patients (86%) in the setting of abnormal DNA content developed high-grade dysplasia or adenocarcinoma within 2 years and thus may benefit from resection, whereas those with normal DNA content may be followed with surveillance endoscopy. The presence of DNA content abnormality can also confirm a morphologic suspicion of high-grade dysplasia, which should be managed with resection, as nearly 50% of the high-grade dysplasia patients were found to have adenocarcinoma within 2 years.

Ampulla of Vater is a peculiar anatomical structure, characterized by the crossroad of three distinct epithelia: Intestinal, ductal pancreatic and biliary. Adenocarcinomas arising in this area represent an opportunity to understand the comparative biology of all periampullary malignancies. These neoplasms can exhibit intestinal, pancreaticobiliary or mixed features, whereas the subclassification based on morphology and immunohistochemical features failed in demonstrating a robust prognostic reliability. In the last few years, the molecular landscape of this tumor entity has been uncovered, identifying alterations that may serve as prognostic and predictive biomarkers. In this review, the histological and genetic characteristics of ampullary carcinomas are discussed, taking into account the main clinical and therapeutic implications related to this tumor type as well.

Carcinoma of the ampulla of Vater is uncommon. This study aimed to clarify predictors of survival for ampullary adenocarcinoma and to identify characteristics of its two major pathological subtypes.

Medical records were reviewed for 86 patients who underwent curative resection for ampullary adenocarcinoma between 2000 and 2012 at 12 principal hospitals in Kagawa, Japan.

Resection was most common among 75-79-year-old patients. Actuarial 1-, 3-, and 5-year postoperative survival rates for ampullary adenocarcinoma were 90%, 72.3%, and 69.1%, respectively. Preoperative biliary drainage; serum CA19-9 and total bilirubin levels; pathological grade; perineural, vascular, pancreatic, and duodenal invasion; nodal metastasis; UICC-T stage; and pancreatobiliary subtype were predictors of poor survival. An elevated serum CA19-9 level; an elevated total bilirubin level; lymphatic, vascular, perineural, and pancreatic invasion; and advanced overall tumor stage were more common in patients with pancreatobiliary-type tumors than in patients with intestinal-type tumors. Additionally, pathologic subtype analysis showed that each subtype had distinct prognostic factors.

Preoperative elevated serum CA19-9 and total bilirubin levels are prognostic factors for ampullary adenocarcinoma, and are both associated with pancreatobiliary-type tumors. Surgeons should be aware of these factors because pancreatobiliary-type adenocarcinoma is aggressively invasive and is associated with poor survival.

Ampullary adenocarcinoma is considered to have a better prognosis than either pancreatic or bile duct adenocarcinoma. Pancreaticoduodenectomy is associated with significant mortality and morbidity. Some recent publications have advocated the use of endoscopic papillectomy for the treatment of early ampullary adenocarcinoma. This article reviews investigations and surgical treatment options of ampullary tumours.

A systematic review of English-language articles was carried out using an electronic search of the Ovid MEDLINE (from 1996 onwards), PubMed and Cochrane Database of Systematic Reviews databases to identify studies related to the investigation and management of ampullary tumours.

Distinguishing between ampullary adenoma and adenocarcinoma is challenging given the inaccuracy of endoscopic biopsy, for which high false negative rates of 25-50% have been reported. Endoscopic ultrasound is the most accurate method for local staging of ampullary lesions, but distinguishing between T1 and T2 adenocarcinomas is difficult. Lymph node metastasis occurs early in the disease process; it is lowest for T1 tumours, but the risk is still high at 8-45%. Case reports of successful endoscopic resection and transduodenal ampullectomy of T1 adenocarcinomas have been published, but their duration of follow-up is limited.

Optimal staging should be used to distinguish between ampullary adenoma and adenocarcinoma. Pancreaticoduodenectomy remains the treatment of choice for all ampullary adenocarcinomas.

Adenoma and adenocarcinoma are the most common ampullary lesions. Advances in diagnostic modalities including endoscopic ultrasonography and intraductal ultrasonography have provided useful information that aids in diagnosing and managing ampullary lesions. Endoscopic papillectomy can be a curative therapy for localized ampullary adenoma and have a role in the diagnosis of indeterminate ampullary lesions that may contain a hidden malignancy. However, the consensus on how and when to use endoscopic papillectomy has not been fully established. This article reviews the approach to the patient with benign or malignant ampullary lesion.

Duodenal polyps are a rare finding in patients presenting for gastroscopy, being found in 0.3-4.6% of cases. The majority of patients are asymptomatic. The most common lesions necessitating removal are duodenal adenomas which should be differentiated from other mucosal lesions such as ectopic gastric mucosa, and submucosal lesions such as carcinoids and gastrointestinal stromal tumours (GISTs). Adenomas can occur sporadically or as part of a polyposis syndrome. Both groups carry malignant potential but this is higher in patients with a polyposis syndrome. The majority of sporadic duodenal adenomas are flat or sessile and occur in the second part of the duodenum. Historically duodenal adenomas have been managed by radical surgery, which carried significant mortality and morbidity, or more conservative local surgical excision which resulted in high local recurrence rates. There is growing evidence for the use of endoscopic mucosal resection (EMR) techniques for treatment of sporadic nonampullary duodenal adenomas, with good outcomes and low complication rates. Endoscopic submucosal dissection (ESD) carries greater risk of complications and should be reserved for experts in this technique. Patients with sporadic duodenal adenomas carry an increased risk of colonic neoplasia and should be offered colonoscopy. The impact of endoscopic resection on the course of polyposis syndromes such as familial adenomatous polyposis (FAP) needs further study.

This study aimed to evaluate the feasibility, safety, and follow-up results of endoscopic papilletomy (ESP) with pancreatic and biliary duct stent placement for ampullary tumors. The therapeutic approach to benign ampullary tumors remains unsettled. The ESP procedure is a curative treatment option for benign papillary tumors, but ESP raises concerns about a relatively high risk for procedure-related complications such as pancreatitis. A pancreatic stent may protect against complications.

Between September 2000 and June 2008, 36 patients with ampullary tumors confined to the mucosa and no intraductal tumor growth underwent ESP. The preprocedural diagnostic tools included endoscopic ultrasound, transpapillary intraductal ultrasound, and endoscopic retrograde cholangiopancreatography. Pancreatic and biliary stent placement was attempted if feasible. Endoscopic follow-up evaluation was conducted periodically as surveillance for recurrence.

En bloc ESP was achieved for 94% of lesions with a median size of 14 mm. There were 26 adenomas including 4 high-grade intraepithelial neoplasias (HGINs), 5 carcinomas in adenoma, and 3 intramucosal cancers. Complete resections with tumor-free lateral and basal margins was achieved for 81% of the cases. During the median follow-up period of 14 months, there was one recurrent adenoma, which was successfully eradicated by a repeat ESP. A pancreatic stent was placed in 35 cases and a biliary stent in 29 cases. Mild acute pancreatitis and bleeding, managed endoscopically, occurred in 3 cases each (8%).

The ESP procedure can be feasible for benign ampullary adenoma, HGIN, and noninvasive cancer without intraductal tumor growth. Prophylactic stent placement in the pancreatic and bile ducts may reduce procedure-related complications.

Although few controlled trials exist in the field, endoscopic papillectomy has evolved over the recent years with new data on preoperative staging and improved methods for its safe and successful completion. In 2006, a consensus guideline was published by the American Society of Gastrointestinal Endoscopy evaluating the role of endoscopy in managing ampullary adenomas.

The recent literature of endoscopic papillectomy has focused on the preoperative management of ampullary tumors, with a paper evaluating the role of endoscopic ultrasound. Also, a randomized controlled trial has shown that the use of pancreatic duct stents is associated with less incidence of postendoscopic papillectomy pancreatitis, although the study was probably underpowered. Several methods can be used to help locate the pancreatic duct postendoscopic papillectomy (endoscopic ultrasound-guided rendezvous and methylene blue injection). The recurrence and complication rate in more recent papers continue to be acceptable, at about 30 and 20%, respectively.

Endoscopic papillectomy is a reasonable alternative to transduodenal surgical excision, but more controlled studies with long-term data are needed to evaluate preoperative staging accuracy and recurrence rates.

Ampullary adenomas occur sporadically and in the setting of familial polyposis syndromes. In either case, and whether symptomatic at presentation or found asymptomatically in the setting of endoscopic screening programs, they are premalignant lesions with risk for malignant degeneration to carcinoma following the adenoma-to-carcinoma sequence that is well recognized in colonic adenocarcinoma. Accordingly, many experts advocate excision, although others cite the low rate of histologic progression suggested by some recent studies as justification for close endoscopic surveillance rather than excision before demonstration of dysplastic change. This recommendation, however, is complicated by considerable data underscoring the limited accuracy of endoscopic forceps biopsy in detecting occult foci of carcinoma within ampullary adenoma. Thus, the optimal management of these lesions continues to generate considerable controversy. Indications for excision of an ampullary adenoma include treatment of immediate symptoms as well as prevention of malignant degeneration. Although pancreaticoduodenectomy has long been considered the standard procedure for ampullary carcinoma, much controversy exists regarding the procedure of choice for ampullary adenoma. Radical surgery (pancreaticoduodenectomy) possesses the advantage of low recurrence rate but at the expense of higher morbidity (25%-65%) and mortality (0%-10%). Local surgical excision (surgical ampullectomy) possesses the advantages of lower morbidity (0%-25%), essentially nil mortality, and possibly decreased length of hospital stay, but decidedly higher recurrence rates (generally 5%-30%) and the need for postoperative endoscopic surveillance. Snare ampullectomy is a newer endoscopic excisional technique for which limited data are available; advantages compared with radical surgery mirror those of local surgical excision, with apparent lower mortality (0%-1%) and lower morbidity (12%). Presumed advantages compared with local surgical excision include lack of necessity for general anesthesia and laparotomy with comparable morbidity. Disadvantages seem to include limited availability of experienced operators, procedural complexity sometimes requiring adjunctive modalities such as fulguration, the need for multiple procedures (mean, 2.0 procedures) to effect complete excision, and recurrence rates approaching 30%, with a requirement for continued endoscopic surveillance. Ultimately, choice is driven by availability of local expertise, patient tolerance of or expected compliance with long-term endoscopic surveillance programs, presence or absence of coexisting familial polyposis syndromes, medical comorbidities, and overall life expectancy.

Familial risk of colorectal cancer is very common. The high-risk inherited syndromes are well described and much is known about the genetics and the effectiveness of registration, endoscopic surveillance, and appropriate intervention in these patients. The inherited syndromes, however, are extremely rare. There is a large group of patients in our population who can benefit from risk stratification based on the number of their relatives with colon cancer or adenomas and the age at which those relatives developed neoplasm. The GI endoscopist has a vital role in recommending and providing colonoscopic screening for this large group of patients.

Surgical or endoscopic papillectomy may be one of the therapeutic strategies for patients with familial adenomatous polyposis (FAP). To determine whether prophylactic papillectomy is necessary for FAP, we investigated the natural history of the ampullary adenoma in FAP.

Eighteen subjects with FAP were surveyed by duodenoscopy with biopsy for >10 yr. Endoscopic appearance, histological findings, and immunohistochemical stainings for Ki-67 of ampulla were compared between initial and final endoscopic examinations.

The endoscopic grade in the ampulla remained unchanged in 16 subjects, whereas in two subjects an increase in the endoscopic grade was noted. In two subjects adenoma developed from an endoscopically and histologically normal ampulla. The histological grade of dysplasia increased in three of 12 subjects who initially had adenoma. The labeling index for Ki-67 was not different between initial and final examinations.

These data suggest that most ampullary adenoma of patients with FAP is static and that aggressive endoscopic or surgical removal is unnecessary for the adenoma.

Duodenal and periampullary cancer is the most common cause of cancer death in patients with familial adenomatous polyposis who have undergone colectomy. Endoscopic surveillance of upper gastrointestinal adenomas is recommended for patients with familial adenomatous polyposis but the timing and appropriate treatment of neoplasms is unknown. The purpose of this experiment was to report our experience with endoscopic and surgical treatment of advanced duodenal adenomas in patients with familial adenomatous polyposis.

The records of all patients with familial adenomatous polyposis who had undergone surgical or endoscopic treatment for duodenal adenomas were identified. Data including endoscopic surveillance findings, type of intervention, pathology, and follow-up of the lesions were reviewed.

Ten neoplasms >1 cm were treated in eight patients (mean age at the time of diagnosis was 49 years). Nine lesions were histologically advanced. Five lesions involved the papilla. Endoscopic treatment was performed for six lesions. Four lesions recurred, and three were then treated surgically. Local resection was performed for five lesions. Four lesions recurred and two had further operative intervention. Pancreas-sparing duodenectomy was performed in three patients. At a mean follow-up period of 45.7 months, there has been no recurrence.

Endoscopic eradication is an appropriate initial treatment for histologically advanced, noncancerous neoplasms or for patients who are not surgical candidates. Pancreas-sparing duodenectomy may be the treatment of choice for patients with carcinoma and those who have failed endoscopic therapy.

Endoscopic surveillance is recommended for patients with familial adenomatous polyposis (FAP) because of the high prevalence of duodenal adenomas and the risk of periampullary cancer. The aim of this study was to assess the natural history of untreated duodenal and ampullary adenomas in FAP patients during surveillance.

One hundred fourteen FAP patients who had 2 or more surveillance examinations were followed for a mean of 51 months (range, 10 to 151 months).

Duodenal polyps progressed in size in 26% (25 of 95), number in 32% (34 of 106), and histology in 11% (5 of 45) of patients. Morphology and histology of the main duodenal papilla progressed in 14% (15 of 110) and 11% (12 of 105) of patients, respectively. The histologic progression was mild except for one patient who developed a periampullary cancer.

A minority of FAP patients had progression of endoscopic features and histology of duodenal polyps or the main duodenal papilla when followed over 4 years. An endoscopic surveillance interval of at least 3 years may be appropriate for the majority of untreated patients with FAP. Factors that stratify patients as being at the highest risk of periampullary cancer and thus requiring more intensive surveillance are yet to be determined.

It is well known that patients with familial adenomatous polyposis (FAP) are at considerable risk of developing extracolonic manifestations of the disease. Particularly, desmoid tumours of the abdominal cavity, and duodenal adenomas and carcinomas are the most serious ones. It is estimated that some 10% of the FAP patients will develop desmoids, whereas 50-90% of the FAP patients will get duodenal adenomas predominantly concentrated on or around the major papilla. Desmoid tumours and duodenal carcinomas are major causes of death in those patients in whom a prophylactic (procto)colectomy has been performed. Desmoids are histologically benign tumours, composed of mature fibroblasts. They usually grow slowly but they can become quite large and may compress or infiltrate surrounding viscera, which might cause significant morbidity as well as mortality. Successful treatment of these tumours is extremely difficult as surgical therapy often requires the removal of considerable lengths of small bowel. Moreover, surgical therapy may lead to uncontrollable bleeding and is seldom radical. Chemotherapy with cytoxic agents seems promising but so far the data are too few for firm conclusions to be drawn. The same holds true for drug regimens which interfere with the metabolic and hormonal metabolism of the tumour. Although various lines of evidence suggest that the adenoma-carcinoma sequence, which is generally accepted for colorectal adenomas, also applies for the duodenal adenomas in FAP patients, it is not clear whether we should screen these patients for upper gastrointestinal adenomas or not. As these polyps are usually small, sessile, multiple and difficult to remove, the benefit of endoscopic surveillance would be the early detection of cancer rather than eradication of the polyps. In addition, evidence that screening and early treatment leads to improvement of the prognosis is not available. Although the role of (procto)colectomy in the treatment of large-bowel polyps is well established in FAP patients, the treatment of their duodenal counterparts is still open for debate. The risk of the development of periampullary cancer is not high enough to warrant an aggressive prophylactic surgical approach, i.e. a Whipple's procedure, immediately after the discovery of duodenal adenomas. The considerable morbidity and mortality rates of this procedure must be weighted against a putative benefit of screening.

Patients with familial adenomatous polyposis (FAP) are at increased risk for the development of periampullary cancer. The aim of this study was to evaluate the roles of endoscopic and surgical therapy in the management of advanced duodenal polyposis in FAP. From 1990 to 1995, seventy-four FAP patients were enrolled in a prospective endoscopic surveillance protocol. Among these, 11 (14.8%) developed advanced duodenal polyposis and one had duodenal adenocarcinoma. Six patients underwent endoscopic resection of duodenal (n=5) or ampullary adenomas (n=1). The following operations were performed in the remaining six patients: ampullectomy in four, open polypectomy in one, and a Whipple procedure in one. There was one patient who died of acute pancreatitis following endoscopic ampullectomy. The patient with invasive duodenal cancer died of local recurrence. Small polyps were observed at the site of previous resection in all (9 of 9) patients undergoing repeat endoscopy during a mean follow-up of 18 months (range 4 to 34 months). An endoscopic and local surgical resectional approach to advanced duodenal polyposis in FAP is fraught with high recurrence rates, although recurrent polyps are small and may be amenable to retreatment in the future. Long-term follow-up is necessary to prove that deaths from duodenal or ampullary cancer are prevented with this strategy.

We report the case of a 48-year-old man with familial adenomatous polyposis (FAP) who was found to have ampullary carcinoma 6 years after undergoing total colectomy. The patient was examined periodically after colorectal surgery except for duodenoendoscopy because he had also previously undergone distal gastrectomy with gastrojejunal anastomosis for a duodenal ulcer at 27 years of age. An ampullary lesion was suspected on blood chemistry and detected by computed tomography scan and ultrasonography although the patient showed no clinical symptoms. A pancreatoduodenectomy was performed and the histological examination revealed well-differentiated adenocarcinoma with no metastasis to the regional lymphnodes. Long-term periodic surveillance of the upper gastrointestinal tract including the papilla of Vater is therefore important for FAP patients who have undergone prophylactic colectomy.

This study assesses the outcome of 20 patients referred for neodymium: yttrium-aluminum-garnet laser therapy of malignant duodenal tumors between 1984 and 1992. Almost all (95%) of these patients required palliative therapy for gastrointestinal hemorrhage, and nearly half (45%) also had obstructive symptoms. A mean of 3 (range, 1 to 6) laser treatment sessions were required for palliation. Laser therapy eliminated the need for blood transfusions in only 38% of patients. Obstructive symptoms were improved in all patients after laser treatment. Treatment failure could not be predicted on the basis of demographic factors (other than age), tumor characteristics, or transfusion requirements. Survival after laser therapy was 30% at 6 months and 15% at 12 months. Endoscopic neodymium:yttrium-aluminum-garnet laser therapy is a reasonable approach for palliation of malignant tumor obstruction or hemorrhage in selected cases; however, hemorrhage often continues.

Pancreatoduodenectomy, originally performed for malignancy of the pancreas and duodenum, is also commonly used for potentially malignant lesions. Because a normal pancreas should be spared, we investigated the concept of duodenectomy alone with the pancreas intact for diseases such as familial adenomatous polyposis syndrome.

Five patients underwent pancreas-sparing duodenectomy for nonmalignant lesions performed by means of meticulous detachment of the duodenum from the pancreas, transecting the bile and pancreatic ducts outside the duodenum. Reconstruction was accomplished by advancing the jejunum to anastomose end-to-end with the juxtapyloric duodenal cuff, implanting the bile and pancreatic ducts in a location corresponding to the native papilla. The hospital course, complications, and long-term follow-up status of all patients are reviewed in detail.

No deaths occurred in this series. Delayed gastric emptying was seen in one patient and transient pancreatic fistula in another. Long-term endoscopic follow-up showed no stenosis of the ductal anastomoses. Endoscopic surveillance, including endoscopic retrograde cholangiopancreatography, was not hampered by this technique of reconstruction.

Pancreas-sparing duodenectomy is a practical operation for nonmalignant duodenal lesions where the pancreas is not involved by the disease process.

Controversies exist regarding the application of the pylorus-preserving pancreatoduodenectomy (PPPD) to malignancies. This study was intended to disclose the pattern of spread of ampullary cancer and to substantiate that tumor spread at resectable stages does not involve the tissues preserved by PPPD. We examined 40 consecutive Whipple pancreatoduodenectomy specimens: mucosal cancer, 4 cases; cancer invading (but not penetrating) the sphincter of Oddi, 1; cancer invading the submucosa of the duodenum, 12; cancer invading the proper muscle of the duodenum, 5; cancer invading the subserosal layer of the duodenum, 7; and cancer invading pancreatic parenchyma, 11. Five cases of mucosal cancer or cancer invading (but not penetrating) the sphincter spread locally without nodal involvement and showed a 5-year survival of 80% without recurrence, being better (p < 0.05) than the 40% survival for patients with more advanced cancers. Sixty-three percent of the remaining 35 cases had metastasis to regional lymph nodes. The 5-year survival of 28% among those with cancer penetrating the proper muscle was worse (p < 0.05) than the 59% survival for those with less advanced cancers. No cases had involved the anatomic structures that would have been preserved by a PPPD. In three cases (7.5%), gastric cancer coexisted. In conclusion, ampullary cancer not penetrating the sphincter spreads locally. Once penetrating the sphincter, it often spreads regionally and causes recurrence. Cancer penetrating the proper muscle of the duodenum bears a worse prognosis. PPPD is an attractive alternative to the Whipple operation for ampullary cancer because no involvement was found in the tissue preserved by the PPPD. However, surgeons should be aware of a concomitant gastric cancer when doing a PPPD.

Polyps in the stomach and duodenum are frequently found in familial adenomatous polyposis. Cancer arising from some of these polyps may be an important cause of death in patients who have had large bowel resections. This study aims to determine the nature and distribution of foregut polyps in Chinese patients. Twenty-five patients with familial adenomatous polyposis were gastroscoped by a single operator using the end viewing video-endoscopy system. Representative biopsies of normal mucosa or polyps where appropriate were taken from the gastric fundus, antrum and the duodenum. Twenty-five patients were studied. Male = 17, female = 8. Median age was 32 years (range = 17-63 yrs). Nineteen patients were found to have macroscopically visible polyps in the foregut. Ten patients had gastric polyps alone, three patients had duodenal polyps alone whilst six patients had both gastric and duodenal polyps. Twelve, one and three patients had more than 20 polyps in the gastric fundus, antrum and duodenum respectively. Only one patient had polyps which were larger than 10 mm. The commonest polyp in the gastric fundus was the fundic gland polyp whilst hyperplastic and adenomatous polyps were the commonest polyps in the gastric antrum and duodenum respectively. Five patients had adenomatous polyps of which four had duodenal adenomas alone whilst one patient had adenomas in the duodenum, gastric antrum and fundus. Seventy-six per cent of our patients with familial adenomatous polyposis had foregut polyposis. Adenomatous polyps were found in 56% of patients with duodenal polyps or 20% of patients with foregut polyps but hyperplastic and hamartomatous polyps occur commonly in patients with familial adenomatous polyposis as well.

The management of FAP involves treatment of affected individuals and their families. Such an approach is best coordinated by registrars working in dedicated registries, in close collaboration with nurses, physicians, surgeons, clinical geneticists and others who become involved in the care of these patients. The large bowel of patients with FAP should be removed (totally or subtotally) by the third decade of life. Screening of other areas at risk is recommended to document the natural history of extracolonic manifestations and to allow study of the effects of intervention. Despite these other, sometimes life-threatening manifestations, a near to normal life span is possible in the majority of patients with FAP. The aims of management of the individual and of the family are to ensure that their quality of life is optimal, that support is provided in times of emotional need, that anxiety is minimized and that relatives are adequately screened and treated.

We report herein a case of a 43 year old female who was found to have developed ampullary carcinoma seven years following a subtotal colectomy for familial polyposis coli. She presented to us with only a light fever and early stage ampullary carcinoma was subsequently diagnosed by endoscopic examination of the upper gastrointestinal tract, including an endoscopic retrograde choledochopancreatography. The patient is presently alive and well without any evidence of recurrence 33 months after undergoing a pancreaticoduodenectomy.

Multiple gastric and duodenal biopsy specimens from 102 asymptomatic patients with familial adenomatous polyposis, taken during a prospective endoscopic screening programme were examined. One hundred patients had microscopic gastroduodenal pathology, often in the absence of macroscopic lesions. Adenomas were found in 94 patients in the duodenum, in the second and third parts. Hyperplasia of villous and crypt epithelium was also seen, sometimes in the absence of adenomas: this may be a precursor of neoplastic change. In the stomach fundic gland polyps were the commonest abnormality, seen microscopically in 44 patients. Chronic antral gastritis was common in patients without fundic polyps. Gastric adenomas were present in six patients, all of whom also had duodenal adenomas. If duodenal adenomas in familial adenomatous polyposis have a similar malignant potential to those in the colorectum sequential endoscopy and biopsy are necessary to detect cancer in these patients.

Gardner's syndrome is a hereditary disorder characterised by gastrointestinal polyposis, bony osteomata, epidermoid cysts, desmoid tumours and unerupted teeth and odontomes. The major significance of the condition lies in the gastrointestinal polyposis and the high propensity of these polyps to undergo malignant change. The syndrome is no longer considered as a separate genetic entity to familial adenomatous polyposis (FAP) and the multiple stigmata are common to both conditions. A case of Gardner's syndrome is reported and the condition reviewed. The aim being to emphasise those features seen in the head and neck region and their particular importance in terms of early recognition and diagnosis of the underlying disease. The subsequent management of such patients is discussed.

In the US, the cumulative lifetime risk of developing carcinoma of the upper gastrointestinal tract is less than 1 per cent, premalignant conditions are uncommon, and esophageal and gastric malignancies are rarely curable even when identified early. Endoscopic screening of the upper gastrointestinal tract in asymptomatic persons thus cannot be justified. Surveillance of persons with certain uncommon conditions associated with a higher risk of upper gastrointestinal cancer may be of benefit. These conditions include achalasia, Barrett's esophagus, chronic atrophic gastritis with intestinal metaplasia, familial polyposis coli, gastric polyps, lye stricture, Plummer-Vinson syndrome, and tylosis. In the lower gastrointestinal tract, however, the lifetime risk of developing carcinoma is 5 per cent, premalignant conditions and lesions are common, and carcinoma is curable when detected at an early stage. Sigmoidoscopic screening of asymptomatic adults has been advocated by the American Cancer Society but has not become widely practiced because of its cost, required physician effort, low overall yield, and poor patient compliance. Surveillance by flexible sigmoidoscopy is recommended for persons at slightly increased risk of colorectal carcinoma who have prior breast or gynecologic malignancy or a family history of colorectal malignancy. Colonoscopic surveillance is recommended for patients with high risk of colorectal cancer who have had prior colorectal carcinoma or adenoma or who have inflammatory bowel disease or a ureterosigmoidostomy.

102 patients with familial adenomatous polyposis underwent upper gastrointestinal endoscopy as a screening test for gastroduodenal adenomas. 100 had duodenal abnormalities (dysplasia in 94, and hyperplasia in 6), usually in the second and third parts of the duodenum (91%). The periampullary area was abnormal in 87 of 97 patients who had a biopsy specimen taken from this site (dysplasia 72, hyperplasia 13, and inflammation 2). By contrast, gastric dysplasia was found in only 6 patients. Classification of duodenal polyposis on a 5-grade scale (stages 0-IV), based on polyp number, size, histology, and severity of dysplasia, showed that 11 had stage IV disease: these patients are at greatest risk of malignant change and require close surveillance. The pattern of dysplasia observed in the upper gastrointestinal tract resembled the pattern of mucosal exposure to bile.

Familial adenomatous polyposis (FAP) affects around 1 in 10,000 individuals; the gene for this condition was recently shown to be located on chromosome 5, and it is only a matter of time before its precise location and function are determined, making prephenotypic, and even prenatal, diagnosis more generally available and reliable. In the mean time, care of FAP families will continue to depend on careful registration of family information, prophylactic bowel surgery and surveillance for other potentially serious manifestations of the disease. Upper gastrointestinal malignancies and desmoid tumours have overtaken colorectal cancer as the leading causes of death in some centres. Other dominantly-inherited colorectal cancer syndromes produce less striking phenotypes, but affect far more individuals than FAP. It appears that there are two patterns of hereditary non-polyposis colorectal cancer (HNPCC) syndromes, one involving cases of bowel cancer alone, the other associated with breast and gynaecological cancers; these may prove to be variable expressions of a common gene abnormality. More effort is required by clinicians managing cases of colorectal cancer to identify affected families in order to offer surveillance and appropriate treatment in the hope that such measures may prevent cancer in family members.