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PubMed1995

Hereditary aspects of endometrial adenocarcinoma.

The importance of heredity in the etiology of endometrial cancer (EC) was examined in a series of 326 patients with EC diagnosed at age 60 years or less. If one or both of the proband's parents had died of cancer, a thorough family history of malignancies was studied. Altogether 291 cases with complete parental data were found. Nine kindred (3.1%) showed features compatible with the dominantly inherited cancer trait known as hereditary non-polyposis colorectal cancer (HNPCC). In another 9 cases, clustering of malignancies in 2 or more successive generations was indicative of familial cancer. Aspecific cancer aggregates were found in 112 probands' families, and family history was negative in 161 cases. No families had gynecological cancer as the only malignancy. HNPCC, the genetic etiology of which was recently revealed, seems to be an important risk factor for EC, indicating the significance of family-history investigations of all patients with EC. Colorectal carcinoma (CRC) was here associated with EC also in families with clusterings of malignancies, but in these families no typical features of any known hereditary cancer syndrome could be found. On the basis of the results of the present study, proper surveillance for colorectal cancer should be recommended for patients with endometrial carcinoma if they belong to a family with features indicative of HNPCC. Furthermore, healthy gene carriers in an HNPCC family also need careful surveillance for CRC, EC and perhaps for other extra-colonic malignancies typical for HNPCC. Prophylactic surgery should even be considered in these cases.

Adenocarcinoma↗

PubMed1994

Characteristics relating to ovarian cancer risk: implications for prevention and detection.

Approximately 20,000 women are diagnosed with ovarian cancer in the United States each year, and some 12,000 women die because of it. Epithelial ovarian cancer, the most common histopathologic type, is uncommon before age 40 years, after which incidence rates increase steeply until age 70-79 years and then decrease somewhat. In the United States, the lifetime risk from birth to age 85 years is about 1.5%. There is general agreement that residence in North America or northern Europe, nulliparity, and having a mother or sister with ovarian cancer are associated with an elevated risk, and that increasing number of pregnancies (whether or not full term), increasing length of oral contraceptive use, and increasing duration of lactation are protective. A history of breast or endometrial cancer appears to be associated with a slight elevation in risk. Apart from oral contraceptive use, none of these characteristics can be modified easily to reduce ovarian cancer risk. However, long-term oral contraceptive use before the menopause could prevent as much as half of all ovarian cancer. At present, the subgroup of the population at highest risk consists of women with a mother or sister with the disease; the lifetime ovarian cancer risk in these women is about 9%. A small fraction of them have families with multiple cases of ovarian cancer and early-onset breast cancer, due largely or entirely to mutated alleles of the gene BRCA1. These women, who have a lifetime risk of breast or ovarian cancer of 85-100%, need aggressive screening and possibly prophylactic surgery.

Adult↗

PubMed1999

Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature.

OBJECTIVES: Type II endometrial carcinomas are estrogen-independent and have adverse histologic features and a substantially poorer prognosis. No risk factors have been identified. Interestingly, there is a striking clinical and histopathological similarity between serous papillary carcinomas of the ovary (OSPC), endometrium, and peritoneal cavity, suggesting a common oncogenic mechanism. Several common molecular alterations were found using molecular comparative analysis of OSPC and uterine serous papillary carcinoma (USPC). Germline mutations in the BRCA1 tumor suppressor gene predispose to breast and ovarian cancer but no association with sporadic endometrial cancer has been found. A family of Ashkenazi Jewish origin, in which one sister was first diagnosed with USPC and the second diagnosed with OSPC, led to the hypothesis that a BRCA mutation may contribute to USPC. METHODS: Genomic DNA from both patients as well as two unaffected siblings was analyzed for the three mutations common in Ashkenazi Jews. Loss of heterozygosity (LOH) analysis was performed on DNA extracted from USPC tumor tissue. RESULTS: Both affected sisters tested positive for BRCA1 5382insC germline mutation. LOH analysis confirmed the results. CONCLUSIONS: We present a breast-ovarian cancer family including two sisters with advanced serous papillary carcinomas of endometrial and ovarian origins, carrying the same BRCA1 mutation (5382insC). LOH analysis on USPC tumor DNA showed loss of the wild-type allele, suggesting a causal relationship between the germline BRCA1 mutation and USPC. We believe a study examining BRCA1 mutations in a large cohort of women with this high-risk endometrial carcinoma is warranted. A positive finding may have implications for surveillance and prophylactic surgery in carriers of BRCA1 mutations.

Cystadenocarcinoma, Papillary↗

PubMedDate not supplied

Prophylactic treatment of patients with esophageal varices: is it ever indicated?

The prognosis of patients who bleed from esophageal varices is dismal. Prophylactic treatment of the varix or the elevated portal venous pressure offers a possibility of improving the outlook for these patients. However, as only approximately one-third of patients with varices bleed during their lifetime, correct identification of high-risk patients is vital before embarking on prophylaxis. At present, neither European or Japanese selection criteria are perfect in this respect. The documented incidence of initial variceal bleeding varies between 27% and 48%, and most bleeding episodes occur within the first year after varices are diagnosed. Data from six randomized controlled trials comparing prophylactic beta-blockers with placebo demonstrated a decreased incidence of bleeding in propranolol-treated patients, which in large measure may depend on patient compliance and did not significantly affect survival in all but one study. Early randomized studies of prophylactic sclerotherapy have shown significant reductions in both the incidence of bleeding and mortality, but this promise has not been sustained by subsequent trials, and indeed sclerotherapy was detrimental in two studies. The impressive results in highly selected patients treated in Japan by prophylactic surgery are unlikely to be repeated in a Western setting, involving patient populations that consist predominantly of alcoholic cirrhotics. At present prophylaxis with beta-blockade seems to offer the best therapeutic option, but the future may lie in the development of new interventional techniques such as transjugular intrahepatic portosystemic stent shunting (TIPS) or variceal banding, and ultimately with hepatic transplantation.

Adrenergic beta-Antagonists↗

PubMed1993

Intrapleural rupture of a pulmonary arteriovenous fistula occurring just beneath the pleura: report of a case.

We report herein a rare case of a 21-year-old man with Rendu-Osler-Weber disease, otherwise known as hemorrhagic teleangiectasia, in whom a spontaneous hemothorax occurred following the rupture of one of multiple pulmonary arteriovenous fistulae (PAVF). An emergency life-saving operation was performed which revealed the ruptured fistula lying just beneath the visceral pleura. This case demonstrates that patients in whom a pulmonary angiogram shows an arteriovenous fistula lying just beneath the visceral pleura should undergo prophylactic surgery to avoid a life-threatening emergency, whenever possible.

Adult↗

PubMed1993

Comparison of postoperative results following terminal esophagoproximal gastrectomy and esophageal transection for esophageal varices.

The results of 44 terminal esophagoproximal gastrectomies (TEPG) and 53 esophageal transections (ET) for esophageal varices, performed during the period between January, 1975 and March, 1989, were retrospectively compared. The results examined prognosis, recurrence of esophageal varices and late postoperative complications. The 5-year survival rates for patients who underwent selective or prophylactic surgery were 85.9% following TEPG and 81.6% following ET. However, the 10-year survival rate for the former group was significantly lower than that for the latter group at 59.3% versus 70.0% (P < 0.05) because of the number of deaths due to hemorrhage and liver failure caused by anastomotic ulcers. The respective 5-year recurrence rates of varices for the TEPG and ET groups were 18.4% and 26.4%, respectively, while the 10-year recurrence rate for the former group was again significantly lower than that for the latter group at 27.1% versus 53.7% (P < 0.01). As for postoperative late complications, reflux esophagitis and/or anastomotic ulcers were found twice as frequently after TEPG as after ET. Thus, although TEPG was more effective for preventing variceal recurrence it left the potential for an anastomotic ulcer to develop, which was the dominant cause of death more than 5 years after surgery.

Adult↗

PubMed1993

Pancreatico-duodenectomy for cancer and precancer in familial adenomatous polyposis.

Duodenal adenomas occur in most patients with familial adenomatous polyposis and their potential for malignant transformation appears to be high. In case of rapid polyp growth or severe dysplasia, the place of surgical resection is controversial. We report 2 patients with familial adenomatous polyposis who underwent radical pancreatico duodenectomy several years after the treatment of colonic polyposis. The first patient had a pancreaticoduodenal resection performed for a duodenal adenocarcinoma. The second patient had a pancreaticoduodenal resection with pylorus preservation and pancreatogastric anastomosis performed for recurrent duodenal adenomas with severe dysplasia. Both remained alive without recurrence and with a good functional outcome 24 and 28 months after operation. We conclude that radical prophylactic surgery may be indicated for patients with familial adenomatous polyposis who have severe duodenal polyposis.

Adenomatous Polyposis Coli↗

PubMed1992

Surgical management of unruptured intracranial aneurysms. Personal experience with 37 cases and discussion of the indications.

The authors report a series of 37 cases of unruptured aneurysms, admitted and operated upon over a 5 year period (1985-1990), which represents an incidence of 18% of the total number of aneurysm patients operated upon during this period. These unruptured aneurysms were discovered in 4 types of circumstances: 1) Associated with a ruptured aneurysm but treated in a second procedure (9 cases); 2) After a transient ischaemic attack (6 cases); 3) After a cerebral haemorrhage of a different origin (3 cases), 4) After the onset of various neurological symptoms other than SAH (19 cases). Giant aneurysms (over 2.5 cm in diameter) are excluded from this series. Overall these 37 patients harboured 52 aneurysms, and 1 patient was operated upon on both sides. 27 aneurysms (52%) were located on the right side, 15 (29%) on the left side, and 10 (19%) on the midline. In the immediate post operative period, 1 patient died (2.6%) and 8 patients (21%) presented various complications. The outcome at 6 months was: death 2.6%, moderately disabled 8%, good recovery 89%. The arguments in favour of, or against, the surgical treatment of unruptured aneurysms are discussed in view of the literature. In favour of prophylactic surgery are: 1) The rather poor overall outcome following aneurysm rupture (including deaths before admission); 2) The rather good outcome of surgery in published series of unruptured aneurysms. The data of the natural history of the unruptured aneurysm are more questionable: in this view, surgery seems to be recommended in young patients with an easily accessible aneurysm and being in a good clinical condition.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1992

Prophylaxis in urological surgery.

Prophylaxis in urological surgery is usually taken to mean antibacterial agents. However, in this study, other factors such as the environment, patient risk and surgical risk factors are also taken into account. Because patients have a wide variety of possible risk factors, individual variations must be possible. In standard transurethral resection in non-risk patients, single-dose preoperative prophylaxis may be sufficient. In open surgery prophylactic measures should be varied according to the extent of the procedure.

Anti-Bacterial Agents↗

PubMed1997

Hereditary nonpolyposis colorectal cancer: an update.

UNLABELLED: Sporadic cancer develops approximately at 65 years of age. Epidemiologic data suggest that dietary factors probably are the most influential in colorectal carcinogenesis. In contrast, individuals who have relatives with colorectal neoplasia have an increased risk of these tumors themselves, which will appear earlier in life. The actual incidence of hereditary colorectal cancer is unknown. However, the incidence is much higher compared with well-known hereditary colorectal diseases, such as familial adenomatous polyposis. OBJECTIVE: An overview of the recent progress in the field of both clinical and basic research on hereditary colorectal cancer must be made. MATERIALS AND METHODS: Twenty-two family pedigrees were analyzed at Hamamatsu University School of Medicine, including the largest family pedigree in Japan, which contained 24 cases of colorectal cancer occurring over five generations. In 1995, when the International Symposium on Hereditary Cancer was held in Hamamatsu, 4,109 family pedigrees were investigated and analyzed, including 394 cases in 109 family pedigrees that met the Amsterdam Minimum Criteria. Information was collected by sending questionnaires to major hospitals in Japan. Basic updated data presented at the eighth and ninth International Collaborative Group on Hereditary Colorectal Cancer were also quoted. RESULTS AND CONCLUSIONS: Because of the discovery of mismatch repair genes as that responsible for hereditary nonpolyposis colorectal cancer, modification of the Amsterdam Criteria is necessary. Replication error, as a mutator phenotype of mismatch repair genes, is a useful predictor of second primary malignancies. Surveillance or prophylactic surgery is still a controversial issue.

Colorectal Neoplasms, Hereditary Nonpolyposis↗

PubMed1989

Management of esophageal varices in the Western world--the state of the art.

The treatment by Western countries of bleeding from esophageal varices was reviewed from three definite viewpoints: prevention of first bleeding or prophylactic treatment, control of acute bleeding or emergency treatment, and prevention of rebleeding or elective treatment. Even though prophylactic surgery has been abandoned on the basis of several randomized studies, some authors still perform esophageal transection and report encouraging results. In emergency situations, the role of surgery has been limited by the prohibitive hospital mortality and by the introduction of vasoactive drugs and endoscopic sclerotherapy. Nevertheless, good immediate and long term results have been obtained in specialized centers in which bleeding patients undergo surgery no later than 8 hours after their admission. As regards the prevention of rebleeding, non selective portal decompression gives adequate protection against rebleeding, however, hepatoencephalopathy follows in considerable incidence. In order to avoid this complication, direct operations on varices have been performed, largely with good results. The Warren shunt offers results showing advantage over the non-selective shunt in the first postoperative period but later on, it behaves hemodynamically as a total shunt and the advantage is then cancelled. We report herein a review of the literature and also describe our personal experience with treating bleeding esophageal varices.

Clinical Trials as Topic↗

PubMed1999

Extended survival of a porcine mitral bioprosthesis for 23 years: report of a case.

Limited durability is the major drawback of bioprosthetic valves, few of which survive for as long as 20 years. We report herein the case of a patient we recently encountered in whom a bioprothesis lasted for 23 years. To our knowledge, this is only the second case of such long survival. The patient was a 56-year-old man who was urgently admitted to our hospital with acute mitral regurgitation, 23 years after undergoing mitral valve replacement with a porcine bioprosthesis. Acute leaflet tears were found to be the cause of the mitral incompetence and the xenograft was successfully replaced with a mechanical valve. We believe that when reoperation is thought to carry a low risk, prophylactic surgery might be justified, even in patients without symptoms.

Bioprosthesis↗

PubMed1996

[Effect of molecular diagnostic procedures on surgical therapy of malignant diseases].

In the past molecular biological techniques have provided the basis for principally new aspects in the diagnosis of neoplastic diseases. The genetic predisposition to hereditary cancer syndromes can be detected by germ line DNA sequence analysis and offers the opportunity for prophylactic surgery. Some preneoplastic lesions can be detected through the identification of specific molecular alterations in nucleic acid preparations derived from various clinical samples. Residual or disseminated tumor cells can be detected in resection margins, lymph nodes, bone marrow, or peripheral blood with great sensitivity. Most likely, these techniques will strongly influence cancer screening programs and provide a rational basis for adjuvant systemic or regional therapy modalities. However, the clinical value of these techniques has not yet been proven in controlled trials. The problems of reproducibility and quality assurance have to be addressed and solved. This review summarizes the basic principles of some of these new molecular diagnostic techniques to permit a critical assessment of their clinical implications.

Cell Transformation, Neoplastic↗

PubMed2003

[Sporadic and hereditary colorectal cancer. Pathogenetically different with different therapeutic indications].

In recent years, there have been major advances regarding the understanding of the pathogenesis of sporadic and hereditary colorectal cancer on the basis of molecular research. The clinical implications of this knowledge differ for the sporadic and hereditary forms. In sporadic colorectal cancer, gene mutations occur in colorectal cells but not as germline mutations. Even though molecular data currently do not influence the clinical management of this form of colorectal cancer, promising molecular approaches exist for the assessment of prognosis, early detection, prevention, and therapy. Germline mutations are the cause of hereditary colorectal cancers, in which molecular methods have a major impact on diagnosis and therapy. Prophylactic surgery is accepted for patients with familial adenomatous polyposis (FAP), but not for patients with hereditary non-polyposis colorectal cancer (HNPCC), the second main form of hereditary colorectal cancer. Further studies will have to clarity this issue.

Adenomatous Polyposis Coli↗

PubMed1998

Cancer and inflammatory bowel disease: bias, epidemiology, surveillance, and treatment.

Individuals with chronic ulcerative colitis are at increased risk of developing colorectal carcinoma, particularly if there is long-standing disease or extensive colitis. It is generally accepted that the risk of colorectal cancer does not begin until 8 to 10 years after the time of diagnosis of ulcerative colitis. Thereafter it increases by approximately 0.5% to 1.0% per year. In patients with Crohn's disease, the risk of malignancy is smaller and less well defined. The most significant predictor of the risk of malignancy in patients with inflammatory bowel disease is the presence of dysplasia in colonic biopsies. There is considerable controversy in the literature regarding the efficacy of colonoscopic surveillance programs and the role of prophylactic surgery to prevent colorectal cancer. Surveillance certainly fails to detect carcinoma in some patients who are having regular colonoscopy. Concerns have also been raised as to the cost-benefit of colonoscopic surveillance in patients with colitis. Randomized controlled trials of surveillance programs are highly unlikely in view of the low prevalence of IBD in the population, the long period of observation required, and the probability of contamination of surveillance programs by colonoscopy for assessment of disease activity. Despite the lack of clear guidelines, surveillance colonoscopy and biopsy continues to be widely practiced. Research is proceeding to identify genetic and biochemical markers that may prove clinically useful for predicting cancer risk. At present, however, surveillance programs are likely to continue according to institutional practice. It is important for those participating in such programs to be aware of the limitations of colonoscopy and biopsy as a means of reducing the risk of cancer in inflammatory bowel disease.

Bias↗

PubMed2002

Analysis of different treatment modalities of tethered cord syndrome.

INTRODUCTION: Although MRI has improved the diagnosis of tethered cord, many controversies still exist in the treatment of tethered cord syndrome (TCS). Especially the indications for and timing of surgical release have remained topics of discussion. MATERIALS AND METHODS: We retrospectively analysed a group of 41 spina bifida occulta (SBO) patients with a tethered cord to evaluate the results of treatment. Patients were divided into four groups. Twelve asymptomatic tethered cord patients underwent prophylactic surgery (group 1). Ten patients were operated upon because of progressive symptoms (group 2). In the third group 9 patients were treated conservatively at first, but underwent surgery after further progression of symptoms. The 10 patients in group 4 were treated conservatively. RESULTS: The course of symptoms was analysed in the separate groups. Patients in group 1 remained stable during the mean follow-up of 5.7 years. Neurological symptoms appeared to improve most after early surgery (group 2), but progression of symptoms continued in spite of surgical release.

Adolescent↗

PubMed2006

Video-assisted central compartment lymphadenectomy in a patient with a positive RET oncogene: initial experience.

BACKGROUND: Prophylactic surgery for patients carrying a positive RET proto-oncogene proved to be highly effective in curing those likely to experience the development of a medullary carcinoma. Video-assisted procedures have been proved feasible for central compartment dissection. METHODS: A total of 15 patients (7 men and 8 women) with a positive RET proto-oncogene underwent total thyroidectomy and central compartment lymphadenectomy via a video-assisted approach. The mean age of the patients was 32.5 years. The echographically estimated mean volume was 10.3 ml, and the mean diameter of the main nodule was 8.8 mm. Preoperative ultrasound showed an absence of lateral neck lymph node involvement in all cases. No drain was used. Direct laryngoscopy was performed in all cases 1 month after surgery. RESULTS: The mean operative time was 67.3 min. A transient hypoparathyroidism occurred in one patient, and a permanent hypoparathyroidism occurred in another patient. No laryngeal nerve palsy was present. All the patients were discharged on postoperative day 1. Histology showed a medullary carcinoma in 10 patients and diffuse C-cell hyperplasia in 5 patients. The mean number of lymph nodes removed was 5.1. None of these nodes proved to be metastatic. Calcitonin levels were undetectable in all six patients who had a follow-up period longer than 1 year. CONCLUSION: Video-assisted central compartment lymphadenectomy was proved to be effective and safe. The procedure demonstrated a complication rate comparable with that for the conventional procedure, a better cosmetic outcome, and less postoperative pain. Although the video-assisted access proved to be a valid option for the treatment of patients carrying a positive RET proto-oncogene, a greater number of cases with a longer follow-up period is necessary to estimate the impact of the video-assisted approach on central neck lymphadenectomy.

Adolescent↗

PubMed2001

Hand-assisted laparoscopic total colorectal resection for familial adenomatous polyposis with coexisting rectal cancer.

When familial adenomatous polyposis (FAP) is diagnosed in a patient, prophylactic surgery must be performed whether colorectal cancer is present or not. Operations for FAP have been performed through a large median abdominal incision or an additional perineal incision, depending on the coexistence of rectal cancer. Recently, we reported a technique of laparoscopic rectal amputation without abdominal skin incision for patients with rectal cancer to minimize postoperative cardiac and respiratory complications [6]. In this article, we report a case of laparoscopically assisted proctocolectomy with ileostomy through a minimal abdominal and perineal skin incision performed by a hand-assisted procedure. The purpose of combining the perineal and laparoscopic approaches is to minimize the skin incision, while retaining a rate of cure and safety equivalent to those of conventional rectal amputation, by using the advantages of laparoscopic procedures, and to facilitate postoperative recovery and improve the quality of life for relatively young patients with FAP.

Adenomatous Polyposis Coli↗