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Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome.

Insurance payment to cover costs of prophylactic surgery is occasionally denied to patients who may be at inordinately high risk for hereditary cancer. We describe a 43-year-old woman from a hereditary breast-ovarian cancer (HBOC) family which showed linkage to BRCA1 and who was at inordinately high risk for cancer but who was denied insurance coverage for prophylactic oophorectomy, despite strong recommendations by her gynecologist and a cancer geneticist-medical oncologist. The insurance company claimed that the surgery was not medically necessary because the woman's condition (hereditary cancer predisposition) was not an illness. A summary judgment issued by the Douglas County (Nebraska) District Court ruled in favor of the denial decision of Blue Cross/Blue Shield. But on appeal, the Nebraska Supreme Court offered the conclusion that the patient did in fact require this prophylactic surgery and overruled the District Court's decision for denial. The litigation provides the basis for this case report and may provide a precedent for insurance coverage for patients at high risk for hereditary forms of cancer.

Adult↗

Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines.

After a BRCA mutation has been identified in the context of hereditary breast/ovarian cancer (HBOC), mammographic screening and prophylactic surgery are two of the main options available to those responsible for the clinical management of healthy women. The aim of this study was to describe the attitudes of specialists towards the clinical management of women with an HBOC risk: this information was collected prior to the publication of the recent French guidelines. A random national sample of 1169 French surgeons, gynaecologists and obstetricians was surveyed using a mailed questionnaire, to which 700 of these physicians (60%) responded. When dealing with a BRCA mutated woman, 88.6% of the respondents said they would recommend mammographic screening, but only 27.1% would recommend that it should be carried out annually from the age of 30 years onwards, as recommended in the French guidelines; 10.9% would find it acceptable to propose prophylactic mastectomy from the age of 30 years, and 22.9% would find it acceptable to propose prophylactic oophorectomy from the age of 35 years. The specialists who agreed with recommending breast/ovarian cancer genetic testing also had more positive attitudes towards prophylactic mastectomy (adj OR = 3.4, 95% CI = 1.4-8.2), as did those who had previously recommended prophylactic mastectomy when gene testing was not yet available (adj OR = 2.06, 95% CI = 1.23-3.44). The respondents' attitudes towards prophylactic oophorectomy and mastectomy were significantly associated (adj OR = 3.9; 95% CI = 2.3-6.5). Previous recommendation of prophylactic mastectomy was associated (P < 0.01) with a higher level of knowledge of breast/ovarian cancer genetics and with medical practice in this field. French physicians' attitudes towards mammographic screening and prophylactic surgery were not in complete agreement with the subsequently published French guidelines, the impact of which has now to be considered. Constantly evolving knowledge about the efficacy of preventive intervention will give practitioners new elements to integrate into their counselling.

Attitude of Health Personnel↗

Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome.

BACKGROUND: Women with the Lynch syndrome (hereditary nonpolyposis colorectal cancer) have a 40 to 60 percent lifetime risk of endometrial cancer and a 10 to 12 percent lifetime risk of ovarian cancer. The benefit of prophylactic gynecologic surgery for women with this syndrome has been uncertain. We designed this study to determine the reduction in the risk of gynecologic cancers associated with prophylactic hysterectomy and bilateral salpingo-oophorectomy in women with the Lynch syndrome. METHODS: Three hundred fifteen women with documented germ-line mutations associated with the Lynch syndrome were identified. Women who had undergone prophylactic hysterectomy (61 women) and women who had undergone prophylactic bilateral salpingo-oophorectomy (47 women) were matched with mutation-positive women who had not undergone the procedure in question (210 women for the analysis of endometrial cancer and 223 for the analysis of ovarian cancer). Women who had undergone prophylactic surgery and their matched controls were followed from the date of the surgery until the occurrence of cancer or until the data were censored at the time of the last follow-up visit. RESULTS: There were no occurrences of endometrial, ovarian, or primary peritoneal cancer among the women who had undergone prophylactic surgery. Endometrial cancer was diagnosed in 69 women in the control group (33 percent), for an incidence density of 0.045 per woman-year, yielding a prevented fraction (the proportion of potential new cancers prevented) of 100 percent (95 percent confidence interval, 90 to 100 percent). Ovarian cancer was diagnosed in 12 women in the control group (5 percent), for an incidence density of 0.005 per woman-year, yielding a prevented fraction of 100 percent (95 percent confidence interval, -62 to 100 percent). CONCLUSIONS: These findings suggest that prophylactic hysterectomy with bilateral salpingo-oophorectomy is an effective strategy for preventing endometrial and ovarian cancer in women with the Lynch syndrome.

Adult↗

Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer.

This article describes breast or ovarian cancer surveillance practices and prophylactic surgery involving 34 carriers and 34 noncarriers of a BRCA1/2 mutation within the year after predictive testing. It also evaluates the effect of the predictive test result on cancer screening practices and provides insight into factors important in the decision-making process about health-related behavior. Within the year following predictive testing, 9% (3 of 34) of the carriers decided to have a prophylactic mastectomy. The majority of the carriers was adherent to recommendations regarding regular cancer surveillance following predictive testing. Furthermore, carriers' adherence to clinical breast examination and mammography recommendations significantly increased from pre- to posttest and was significantly higher than noncarriers' utilization after testing. Of the carriers eligible for prophylactic salpingo-oophorectomy, 75% had this operation. All carriers who were advised to have regular surveillance of the ovaries had ovarian ultrasounds. The authors gave major attention to factors playing a part in the decision-making process about health-related behavior.

Adult↗

[Prophylactic surgery for hereditary non-polyposis colorectal cancer].

The most frequent hereditary colorectal cancer predisposition is Lynch syndrome, or hereditary non-polyposis colorectal cancer. The option of prophylactic surgery relies on the penetrance of the genetic defect and the heterogeneity of the condition. Since 20% of all mutation carriers never move on to develop cancer, the purely prophylactic setting is not indicated. However, when colorectal cancer is diagnosed, the question arises if the patient may benefit from extended surgery -- total colectomy or (restorative) proctocolectomy. These patients should be entered into the ongoing prospective-randomized study by German Cancer Aid (http://www.hnpcc-studie.de). Due to substantially increased cancer risk and poor surveillance options, the endometrium and stomach are also subject to the question of prophylactic intervention.

Adult↗

Prophylactic surgery for women at high risk for breast cancer.

Women at high risk for the development of breast cancer have several options open to them including increased cancer surveillance, prophylactic mastectomy and/or oophorectomy, and chemoprevention. We consider high-risk women to be those with known BRCA mutations or a strong family history characterized by multiple relatives with breast cancer, early age at diagnosis, and in some families, ovarian cancer. We present existing data regarding prophylactic surgery for these women. Essentially, a woman at high risk for breast cancer may choose to undergo bilateral prophylactic mastectomy, with or without reconstruction. For patients who have a known breast cancer, contralateral mastectomy is also an option. Finally, for women in families with a strong incidence of ovarian cancer, prophylactic oophorectomy can be considered.

Age of Onset↗

One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery).

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation (BRCA1/BRCA2), and if so, to opt for frequent surveillance and/or prophylactic surgery (bilateral mastectomy and/or oophorectomy). Here, a follow-up is described for 63 healthy women at 50% risk of being a BRCA1/BRCA2 mutation carrier who underwent genetic testing. The course of distress and problems regarding body image and sexuality up to 1 year after disclosure of the test-outcome were described separately for mutation carriers undergoing mastectomy (n = 14), for mutation carriers opting for surveillance (n = 12) and for non-mutation carriers (n = 37). Furthermore, we analyzed whether women opting for prophylactic mastectomy differed from those opting for close surveillance with respect to biographical characteristics, experiences with cancer in relatives and personality. Women opting for prophylactic mastectomy had significantly higher distress levels than mutation carriers who opted for surveillance, and the non-mutation carriers. This difference in levels of distress was highest at pre- and post-test and had almost disappeared at 1-year follow-up. Besides, mutation carriers opting for prophylactic mastectomy were more often in their thirties, more often had young children and had a longer awareness of the genetic nature of cancer in the family than those opting for regular surveillance. Adverse effects were observed in women who underwent prophylactic mastectomy (mostly in combination with immediate breast reconstruction) regarding the perception of how their breast region looked like and felt, the intimate relationship and physical wellbeing whereas women opting for prophylactic mastectomy reported more distress than the other women in the study, their distress levels had significantly decreased 6 months or longer after surgery, possibly due to the significant risk reduction of developing breast cancer. This might explain, why most women who underwent prophylactic mastectomy were satisfied with this decision, despite a perceived negative impact on body image, the intimate relationship and physical wellbeing.

Adult↗

Attitudes to prophylactic surgery and chemoprevention in Australian women at increased risk for breast cancer.

BACKGROUND: Because of the uncertain efficacy of breast cancer screening in women at increased risk of developing breast cancer, bilateral prophylactic oophorectomy and mastectomy are considered management options for high-risk women. Data on the attitudes to prophylactic strategies of high-risk women who have not attended specialist clinics are needed to ascertain the need for patient education and provide the basis for planning of support services. METHODS: Three hundred seventy-one women unaffected by cancer and with unknown mutation status from families with a dominantly inherited susceptibility to breast cancer, recruited through a large Australian population-based, epidemiological study, were assessed using a mailed self-administered questionnaire with validated measures of psychological outcome. RESULTS: Sixteen percent of women reported considering prophylactic mastectomy, and 1% had already had the procedure. Among women with a family history of breast/ovarian cancer, 33% had considered and 5% had already had a prophylactic oophorectomy. Twenty-three percent of women reported considering taking tamoxifen if it were shown to prevent breast cancer. Consideration of prophylactic oophorectomy (OR = 1.51 for a 10% change in perceived risk, 95% CI 1.14-1.99, p = 0.0045) and tamoxifen (OR = 1.14 for a 10% change in perceived risk, 95% CI 1.002-1.30, p = 0.047) were positively associated with perceived cancer risk. CONCLUSIONS: Attitudes to prophylactic surgery and psychological distress levels in high-risk women participating in an epidemiological study appear to be comparable to those of women attending familial cancer clinics and indicate that women attending high-risk clinics may be representative of the larger population of women at increased risk.

Adult↗

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group.

The intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were given the appropriate questionnaires. Prophylactic mastectomy (PM) was considered by 21% of the Austrian mutation carriers (29% affected and 8% non-affected carriers). The majority of affected and non-affected carriers expected PM to impair the quality of their life. Fifty per cent would undergo prophylactic oophorectomy (53% affected and 46% non-affected carriers). The self-rating depression scale indicated that following mutation result disclosure the depression scores of carriers decreased (40 baseline vs 38 after result disclosure, P = 0.3), whereas, for non-carriers, scores increased (36 baseline vs 40 after result disclosure, P = 0.05). We conclude that information about carrier status is not associated with increased depression symptoms in mutation carriers. In non-carriers, depression scores increased slightly, probably reflecting survivor guilt. The option of having PM was associated with a negative impact on the quality of life and was declined by the majority of Austrian mutation carriers.

Adult↗

Current status of prophylactic surgery for hereditary breast and gynecologic cancers.

Given the limitations regarding the impact of screening and the uncertainties concerning chemoprevention for women with significant genetic susceptibilities to breast, endometrial and ovarian cancers, recent research and publications on prophylactic surgery for cancer prevention and improved long-term survival for women at hereditary risk have increasing importance.

Breast Neoplasms↗

What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination.

PURPOSE: To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC). METHODS: Questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer. RESULTS: Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eighty-five percent predicted that if they had a 50% risk of carrying a BRCA1/BRCA2 mutation, they would pursue genetic testing. If they tested positive for a mutation at age 35, 25% predicted they would pursue prophylactic bilateral mastectomies and 68%, prophylactic oophorectomy. Ninety-one percent of respondents believe they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%, prophylactic hysterectomy; and 52%, prophylactic oophorectomy if they tested positive for a mutation. The majority (68%) would not bill their insurance companies for genetic testing because of fear of discrimination, and 26% would use an alias when undergoing testing. Fifty-seven percent of counselors would seek professional psychologic support to help them cope with the results of testing. CONCLUSION: A large percentage of cancer genetic counseling providers predicted they would opt for prophylactic surgery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychologic assistance when undergoing testing. More than half of respondents would not bill their insurance companies for genetic testing, largely because of fear of genetic discrimination. The vast majority of those providers most familiar with cancer genetic testing and its associated medical, psychologic, and legal implications would still pursue genetic testing.

Adult↗

Prophylactic surgery to reduce breast cancer risk: a brief literature review.

Prophylactic mastectomy reduces the likelihood of developing breast cancer among women at heightened risk for breast cancer, but at significant personal cost. Women at increased breast cancer risk on the basis of hormonal history, family history and/or genetic mutation carrier status may consider bilateral prophylactic mastectomy with or without reconstruction to reduce their cancer risk and/or decrease their chances of cancer mortality. Women having received mastectomy as treatment for breast cancer may request contralateral mastectomy to decrease the chances of developing a second breast primary. The potential oncologic value of these procedures must be weighed carefully on a case-by-case basis against the operation's physical and psychological morbidity. The purpose of this literature review is to provide a practice-oriented summary of recent clinical studies attempting to address the relative risks and benefits of preventive surgery for breast cancer. Data are included regarding the psychological factors surrounding patient selection and quality of life outcomes, which become the cornerstone of patient satisfaction and acceptance. Taken together, these data support the Society of Surgical Oncology position statement regarding the proper application of prophylactic surgery for breast cancer.

Breast Neoplasms↗

[Prophylactic surgery of mammary and ovarian carcinoma].

New insights into the genetic basis of carcinogenesis have been obtained by modern molecular biological techniques. Several susceptibility genes are known. The hereditary breast and ovarian cancer syndrome (germline mutations in BRCA1 and BRCA2) and endometrial cancer in the context of the hereditary non-polyposis colorectal cancer syndrome (HNPCC), germline mutations in mismatch-repair genes, are the most frequent hereditary cancer syndromes in gynaecology. Mutations in TP53 (Li-Fraumeni syndrome) and PTEN (Cowden's disease), associated with increased risk of breast cancer, are responsible for a smaller portion of familial breast cancer. The risk of inheritance and disease can be identified and defined by investigating family history, risk calculation programs, and genetic testing. Afterwards, options of primary, secondary, and tertiary prevention can be formulated. Presently, prophylactic surgery is the only option proven by clinical trials that can reduce the mortality of hereditary breast and ovarian cancer.

Adult↗

Spontaneous untwisting in sigmoid volvulus--the case for 'prophylactic' surgery. A report of 3 cases.

Sigmoid volvulus may present in different ways, ranging from a dramatic acute onset to recurrent minor episodes, with symptoms varying in degree of severity in between. In elderly patients and those who already have gangrene of the colon at presentation, the operative morbidity and mortality are high. It has been suggested that perhaps half the patients presenting with acute sigmoid volvulus have a history of previous mild recurrent attacks that have reduced spontaneously. It should be possible to recognise these episodes of subclinical volvulus and to institute treatment before the development of obstruction or possible gangrene. In the 3 cases presented here, features suggestive of subclinical volvulus, viz. abdominal pains, distension, constipation and dramatic passage of flatus are highlighted. Redundant sigmoid colon on barium enema, plus the clinical features mentioned, are virtually diagnostic, and prophylactic surgery is justified to avoid the mortality and morbidity associated with established cases of sigmoid volvulus.

Abdominal Pain↗

Results after 24 years of prophylactic surgery for rheumatoid atlantoaxial subluxation.

We evaluated the use of surgical stabilisation for atlantoaxial subluxation after a follow-up of 24 years in 50 rheumatoid patients who had some degree of pain but no major neurological deficit. The mortality of patients treated by atlantoaxial fusion was significantly lower than for those who received conservative treatment. The deaths resulted from infection or comorbid conditions. The significantly high relative risks of mortality from conservative treatment compared with surgical treatment were mutilating disease and susceptible factors on both of the HLA-DRB1 alleles. Relief from pain and neurological and functional recovery were better, and the radiological degree of atlantoaxial translocation was less in those who were surgically treated compared with those who were not. Two patients had superficial local infections after surgery. We conclude that prophylactic atlantoaxial fusion is better than conservative treatment in these patients.

Arthritis, Rheumatoid↗

New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.

BACKGROUND: The surgical management of patients with multiple endocrine neoplasia-2A (MEN-2A) continues to evolve with specific genotype-phenotype correlations allowing for a more tailored approach. In this study, we report the surgical management of one of the largest MEN-2A families with a rearranged during transfection (RET) codon 804 mutation. METHOD: This is a cohort study comprising all at-risk kindred within a single known MEN-2A family. Prophylactic total thyroidectomy with lymph node dissection was recommended to all mutation carriers aged 5 years and older. RESULTS: There were a total of 48 at-risk individuals in the MEN-2A kindred, with 22 patients undergoing thyroidectomy after appropriate preoperative evaluation. A total of 9 patients had medullary thyroid cancer including 5 with a normal preoperative calcitonin level. A total of 11 patients had C-cell hyperplasia and 7 showed histological evidence of parathyroid disease. Only the index case had a phaeochromocytoma. CONCLUSIONS: Genetic testing for germline mutations in the RET proto-oncogene has allowed precise identification of affected RET carriers and provided the opportunity for prophylactic or 'preclinical' surgery to treat and in fact to prevent medullary thyroid cancer. This concept of prophylactic surgery based on a genetic test is likely to be applied more widely as the tools of molecular biology advance.

Adolescent↗

Prophylactic surgery in non-cirrhotic portal fibrosis:is it worthwhile?

BACKGROUND: In cirrhotic patients with portal hypertension prophylactic portasystemic shunts have been found to be ineffective as deaths from post-shunt liver failure exceed those from bleeding. However, in patients with non-cirrhotic portal hypertension, variceal bleeding rather than liver failure is the common cause of death. In developing countries shortage of tertiary health-care facilities and blood banks further increases mortality due to variceal bleed. AIM: To study the results of prophylactic operations to prevent variceal bleeding in patients with portal hypertension due to non-cirrhotic portal fibrosis (NCPF). METHODS: Between 1976 and 2001, we performed 45 prophylactic operations in patients with NCPF, if the patients had high-risk esophagogastric varices or symptomatic splenomegaly and hypersplenism. Proximal lienorenal shunt was done in 41 patients and the remaining underwent splenectomy with (2 patients) or without (2 patients) devascularization. RESULTS: There was no operative mortality. Thirty-eight patients were followed up for a mean 49 (range, 12-236) months. Three patients bled - one was variceal and two due to duodenal ulcers; none died of bleeding. There were 2 late deaths (6 weeks and 10 years after surgery), one from an unknown cause and one due to chronic renal failure. The delayed morbidity was 47%. This included 7 patients who developed portasystemic encephalopathy, 4 glomerulonephritis, 2 pulmonary arteriovenous fistulae and 5 ascites requiring treatment with diuretics. Thus only 20 (53%) patients were symptom-free on follow up. CONCLUSIONS: Prophylactic surgery is safe and effective in preventing variceal bleeding in NCPF but at the cost of high delayed morbidity.

Adolescent↗

Incidence of transient bacteremia following dental surgery--prophylactic use of cefuroxime, ceftriaxone or clindamycin.

The incidence of transient bacteremia after dental surgery as examined in 15 ml of venous blood has been previously found to amount to 69%. In this study, cefuroxime (1.5g), ceftriaxone (1.0g) or clindamycin (0.6g) was used for chemoprophylaxis to investigate the rate of transient bacteremia after dental surgery. The concentrations of these antimicrobial agents in peripheral blood and an effusion from the tooth extraction wound were measured. The incidence of transient bacteremia was limited to 4.2% by cefuroxime, 0% by ceftriaxone and 5.9% by clindamycin.

Adult↗