Estudios primarios relacionados a este tópico

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Estudio primario

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Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients.

Revista Annals of surgery
Año 2017
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Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

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OBJECTIVE: The aim of this study was to describe postoperative outcomes of total gastrectomy at our institution for patients with hereditary diffuse gastric cancer (HDGC). BACKGROUND: HDGC, which is mainly caused by germline mutations in the E-cadherin gene (CDH1), renders a lifetime risk of gastric cancer of up to 70%, prompting a recommendation for prophylactic total gastrectomy. METHODS: A prospective gastric cancer database identified 41 patients with CDH1 mutation who underwent total gastrectomy during 2005 to 2015. Perioperative, histopathologic, and long-term data were collected. RESULTS: Of the 41 patients undergoing total gastrectomy, median age was 47 years (range 20 to 71). There were 14 men and 27 women, with 25 open operations and 16 minimally invasive operations. Median length of stay was 7 days (range 4 to 50). In total, 11 patients (27%) experienced a complication requiring intervention, and there was 1 peri-operative mortality (2.5%). Thirty-five patients (85%) demonstrated 1 or more foci of intramucosal signet ring cell gastric cancer in the examined specimen. At 16 months median follow-up, the median weight loss was 4.7 kg (15% of preoperative weight). By 6 to 12 months postoperatively, weight patterns stabilized. Overall outcome was reported to be "as expected" by 40% of patients and "better than expected" by 45%. Patient-reported outcomes were similar to those of other patients undergoing total gastrectomy. CONCLUSION: Total gastrectomy should be considered for all CDH1 mutation carriers because of the high risk of invasive diffuse-type gastric cancer and lack of reliable surveillance options. Although most patients have durable weight loss after total gastrectomy, weights stabilize at about 6 to 12 months postoperatively, and patients report outcomes as being good to better than their preoperative expectations. No patients have developed gastric cancer recurrence after resections.

Estudio primario

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Current status of prophylactic surgical treatment for familial adenomatous polyposis in Japan.

Revista Surgery today
Año 2017
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PURPOSE: We conducted this study to clarify the current clinical practice of prophylactic colectomy for patients with familial adenomatous polyposis (FAP) in Japan. METHODS: This retrospective multi-center cohort study involved 23 specialized institutions for colorectal disease in Japan. We analyzed the records of 147 patients who underwent prophylactic surgical treatment between 2000 and 2012. Patients were divided into Group 1 (2000-2006) and Group 2 (2007-2012) based on their date of surgery. RESULTS: Age at the time of prophylactic surgery was 27 and 31 years in Groups 1 and 2, respectively. The proportion of attenuated FAP was significantly lower in Group 2 than in Group 1 (1.0 vs. 13 %, respectively). Pathological examination revealed an increased incidence of malignant polyps in the resected specimens from Group 2 patients (10 vs. 23 %, respectively; P = 0.034). Laparoscopic surgery was more frequent in Group 2 than in Group 1 (61 vs. 40 %, respectively). There was no surgical mortality in either group. CONCLUSION: Prophylactic surgery for FAP results in good short-term surgical outcomes in Japan. The current surgical approach is characterized by limited surgical indications for patients with attenuated FAP, delayed timing of colectomy, and the increasing standardization of laparoscopic surgery.

Estudio primario

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Patient experience with breast reconstruction process following bilateral mastectomy in BRCA mutation carriers.

Revista American journal of surgery
Año 2017
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BACKGROUND: Many patients with BRCA mutations consider bilateral mastectomy for risk reduction (RRM) or when diagnosed with cancer (TM). Limited data exist to help inform patients about the reconstruction (recon) process. We sought to identify factors associated with unforeseen procedures following RRM or TM in BRCA positive patients. METHODS: We retrospectively evaluated records from 178 BRCA positive patients who had RRM or TM with recon from 1997 to 2013 in a single healthcare system. Univariate and multivariate logistic regression was used to assess factors associated with unexpected procedures. RESULTS: One hundred four patients had RRM, and 78 had TM. Median time to completion was 9.0 months (95% CI 7.2-10.8). Overall, 57.3% of patients had an unexpected procedure and 21.9% had a complication requiring surgery. Unexpected revisions were associated with increasing age and radiation (in TM). CONCLUSIONS: BRCA positive patients may have multiple revision surgeries. The likelihood of unexpected procedures increases with age. Future studies are needed to inform patients about the recon process.

Estudio primario

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Assessing the Risk of Occult Cancer and 30-day Morbidity in Women Undergoing Risk-reducing Surgery: A Prospective Experience.

Revista Journal of minimally invasive gynecology
Año 2017
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STUDY OBJECTIVE: To investigate the incidence and predictive factors of 30-day surgery-related morbidity and occult precancerous and cancerous conditions for women undergoing risk-reducing surgery. DESIGN: A prospective study (Canadian Task Force classification II-1). SETTING: A gynecologic oncology referral center. PATIENTS: Breast-related cancer antigen (BRCA) mutation carriers and BRCAX patients (those with a significant family history of breast and ovarian cancer). INTERVENTIONS: Minimally invasive risk-reduction surgery. MEASUREMENTS AND MAIN RESULTS: Overall, 85 women underwent risk-reducing surgery: 30 (35%) and 55 (65%) had hysterectomy plus bilateral salpingo-oophorectomy (BSO) and BSO alone, respectively. Overall, in 6 (7%) patients, the final pathology revealed unexpected cancer: 3 early-stage ovarian/fallopian tube cancers, 2 advanced-stage ovarian cancers (stage IIIA and IIIB), and 1 serous endometrial carcinoma. Additionally, 3 (3.6%) patients had incidental finding of serous tubal intraepithelial carcinoma. Four (4.7%) postoperative complications within 30 days from surgery were registered, including fever (n = 3) and postoperative ileus (n = 1); no severe (grade 3 or more) complications were observed. All complications were managed conservatively. The presence of occult cancer was the only factor predicting the development of postoperative complications (p = .02). CONCLUSION: Minimally invasive risk-reducing surgery is a safe and effective strategy to manage BRCA mutation carriers. Patients should benefit from an appropriate counseling about the high prevalence of undiagnosed cancers observed at the time of surgery.

Estudio primario

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Pouchitis Is a Common Complication in Patients With Familial Adenomatous Polyposis Following Ileal Pouch-Anal Anastomosis.

Revista Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Año 2016
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BACKGROUND & AIMS: Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgical procedure most commonly selected for patients with familial adenomatous polyposis (FAP) or ulcerative colitis that is refractive to medical treatment. Pouchitis is the most common complication in patients with ulcerative colitis after IPAA, but is thought to rarely occur in patients with FAP. We investigated the frequency of pouchitis and other pouch-related complications in patients with FAP after IPAA. METHODS: We performed a retrospective cohort study of all patients with FAP who underwent IPAA at a single tertiary institution from 1992 through 2015 (n = 113). Patients were identified using International Classification of Diseases-9 diagnostic and current procedural terminology codes. We obtained relevant demographic and clinical data from patients' electronic medical records. The frequencies of pouchitis and pouch-related complications were determined. RESULTS: Twenty-five patients (22.1%) developed pouchitis (mean time to pouchitis, 4.1 years) and 88 did not (77.9%). Patients with pouchitis showed a trend toward developing late (>90 days after IPAA) pouch-related complications (56.0% of patients with pouchitis developed late complications, compared with 36.4% without). In patients who developed pouchitis, the disease course was acute in 72.0% and chronic in 28.0%. Of those treated, 69.6% responded to antibiotics, 13.0% became dependent on antibiotics, and 13.0% developed antibiotic resistance. CONCLUSIONS: Pouchitis is more prevalent in patients with FAP than previously believed. Although pouchitis seems to occur later in patients with FAP than in patients with ulcerative colitis, and have a milder course, it should be considered a common complication among patients with FAP following IPAA.

Estudio primario

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Early, Prophylactic Thyroidectomy in Hereditary Medullary Thyroid Carcinoma: A 26-year Monoinstitutional Experience.

Revista American journal of clinical oncology
Año 2015
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PURPOSE: Prophylactic thyroidectomy has been encouraged for children with REarranged during Transfection (RET) germline mutations to prevent the onset, persistence, or recurrence of medullary thyroid carcinoma (MTC). The American Thyroid Association (ATA) recently published guidelines on the timing of prophylactic thyroidectomy. Our aim here was to seek information on the optimal timing of surgery for carriers of RET gene mutations with no clinical evidence of disease, bearing in mind the ATA recommendations. METHODS: From 1986 to 2012, total thyroidectomy was performed at our institute on 31 carriers of RET gene mutations, 28 of them found on family screening in the post-RET era, and the other 3 under 20 years of age and classified as "early cases" in the pre-RET era. The following parameters were studied: age at surgery, MTC risk, basal calcitonin (bCT) and pentagastrin-stimulated calcitonin (sCT), surgery outcomes, and persistence of disease. RESULTS: By family, the most prevalent mutation was codon 634 (30%) RET mutation. The youngest MTC patient was 5 years old. Overall, MTC was found in 68% of cases; 52% of the sample had a normal bCT and 25% had an sCT unresponsive to pentagastrin. The only factor predicting the risk of MTC at final histology was an ATA-RET risk level C. On receiver oparating curves analysis, a cutoff at age over 24 years predicted (P=0.06) a yield of MTC in the resected specimen. Interestingly, none of the patients with MTC had nodal involvement (0/21 patients with MTC). Yet, none of the patients had permanent nerve palsy, and only 1 patient had permanent hypocalcemia. bCT was normal postoperatively and during the follow-up in all but 3 patients. CONCLUSIONS: It is noteworthy that the yield of cancer in removed thyroid was 100% for codon 634 (9/9 patients, 5 families) and for codons 891 and 768 (2/2 patients in each of the 2 families with those codon mutations), followed by 67% for codon 609 (4/6 patients, 1 family), and 60% for codon 618 (3/5 patients in 4 families) RET mutation. In cases of ATA-RET levels B and C, waiting for an increase in bCT and/or sCT may not guarantee that prophylactic surgery is performed before MTC develops (which would assure patients a life free of diseases and a less-invasive surgical procedure, without any need for central lymph-node dissection).

Estudio primario

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Prophylactic Laparoscopic Total Gastrectomy with Jejunal Pouch Reconstruction in Patients Carrying a CDH1 Germline Mutation.

Revista Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
Año 2015
Enlaces Pubmed DOI PubMed Central

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BACKGROUND: For patients with an identified germline E-cadherin-1 (CDH1) mutation, prophylactic gastrectomy is the treatment of choice to eliminate the high risk of developing diffuse gastric cancer. Laparoscopic total gastrectomy with jejunal pouch reconstruction is a novel approach that may be especially suitable in these patients. METHODS: Patients with a germline CDH1 mutation who underwent prophylactic laparoscopic total gastrectomy with jejunal pouch were included in our prospective database. RESULTS: A total of 11 patients with a median age of 40 (22-61) years were included. The average operative time was 4:26 ± 0:49 h and the average blood loss was 219 ± 155 ml. Median length of hospital stay was 10 (7-27) days. In two patients, an esophagojejunal anastomotic leakage occurred (grade 4). The leakages were seen in patient numbers 2 and 3, which may be a result of a learning curve. The latter eight patients did not develop anastomotic leakage. Pulmonary complications occurred in one patient with atelectasis and in one patient with pneumonia (grade 2). The 60-day mortality rate was 0 %. Multiple foci of intramucosal diffuse gastric signet ring cell carcinoma were found in the resection specimen of 9/11 (82 %) patients. All 11/11 (100 %) resections were microscopically radical. CONCLUSIONS: Prophylactic laparoscopic total gastrectomy with jejunal pouch reconstruction in patients with a CDH1 germline mutation is feasible and safe. In 82 % of patients, foci of intramucosal diffuse gastric signet ring cell carcinoma in the resection specimen were found.

Estudio primario

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Outcomes and Cost Analysis in High-Risk Patients Undergoing Simultaneous Free Flap Breast Reconstruction and Gynecologic Procedures.

Revista Annals of plastic surgery
Año 2015
Enlaces Pubmed Health Technology Assessment (HTA) DOI crd.york.ac.uk

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BACKGROUND: For patients with BRCA mutations, a simultaneous procedure that combines risk-reducing operation of the ovaries with mastectomy and breast reconstruction is an attractive option. The purpose of this study was to assess the outcomes and associated cost of performing simultaneous mastectomy, free flap breast reconstruction (FFR), and gynecologic procedure. METHODS: A retrospective chart review was performed on patients who underwent bilateral FFR from 2005 to 2012. Four hundred twenty-two patients were identified who underwent bilateral breast reconstruction without a simultaneous gynecologic procedure. Forty-two patients were identified who underwent simultaneous FFR and gynecologic procedure. Clinical outcomes, medical and surgical complications, and hospital costs were analyzed and compared between the 2 groups. RESULTS: A total of 928 free flaps were performed on 464 patients. Forty-two patients had a simultaneous gynecologic procedure at the time of breast reconstruction. Twenty-three (54.8%) patients within the study group underwent simultaneous bilateral salpingo oophorectomy (BSO), whereas the other 19 (45.2%) underwent both total abdominal hysterectomy and BSO. Eighty-four free flaps were performed in this cohort (n = 48 muscle-sparing transverse rectus abdominis myocutaneous, n = 28 deep inferior epigastric perforator, n = 4 superficial inferior epigastric perforator, n = 4 transverse upper gracilis). Mean operative time was 573 minutes. Mean hospitalization was 5.3 days. Postoperatively, 4 patients experienced an anastomotic thrombosis; 2 patients had an arterial thrombosis and 2 patients had a venous thrombosis. There were 2 flap failures, 2 patients with mastectomy skin flap necrosis, 11 patients who developed breast wound healing complications, and 6 patients who developed abdominal wound healing complications. Surgical and medical complication rates did not differ significantly between those who had simultaneous procedures, and those who did not. There was a statistically significant difference in the average total cost when comparing the group of patients receiving prophylactic mastectomy/FFR/total abdominal hysterectomy and/or BSO versus the patients who did not have combined gynecologic procedures at the time of reconstruction ($22,994.52 vs $21,029.23, P = 0.0004). CONCLUSIONS: For the high-risk breast cancer patient, a combined mastectomy, free flap reconstruction, and gynecologic procedure represents an attractive and safe option.

Estudio primario

No clasificado

Total skin-sparing mastectomy in BRCA mutation carriers.

Revista Annals of surgical oncology
Año 2014
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BACKGROUND: Total skin-sparing mastectomy (TSSM) with preservation of the nipple-areolar complex skin has become increasingly accepted as an oncologically safe procedure. Oncologic outcomes after TSSM in BRCA mutation carriers have not been well-studied. METHODS: We identified 53 BRCA-positive patients who underwent bilateral TSSM for prophylactic (26 patients) or therapeutic indications (27 patients) from 2001 to 2011. Cases were age-matched (for prophylactic cases) or age- and stage-matched (for therapeutic cases) with non-BRCA-positive patients. Outcomes included tumor involvement of resected nipple tissue, the development of new breast cancers in patients who underwent risk-reducing TSSM, and local-regional recurrence in patients who underwent therapeutic TSSM. RESULTS: Outcomes from 212 TSSM procedures in 53 cases and 53 controls were analyzed. In patients undergoing TSSM for prophylactic indications, in situ cancer was found in one (1.9 %) nipple specimen in BRCA-positive patients versus two specimens (3.8 %) in the non-BRCA-positive cohort (p = 1). At a mean follow-up of 51 months, no new cancers developed in either cohort. In patients undergoing TSSM for therapeutic indications, in situ or invasive cancer was found in zero of the nipple specimens in BRCA-positive patients versus two specimens (3.7 %) in the non-BRCA-positive cohort (p = 0.49). At a mean follow-up of 37 months, there were no local-regional recurrences in the BRCA-positive cohort and 1 (3.7 %) in the non-BRCA-positive cohort. CONCLUSIONS: TSSM is an oncologically safe procedure in BRCA-positive patients. In patients undergoing TSSM as a risk-reducing strategy, 4-year follow-up demonstrates no increased risk of developing new breast cancers; longer-term follow-up is ongoing.

Estudio primario

No clasificado

Outcome after ileal pouch-anal anastomosis for familial adenomatous polyposis compared to mucosal ulcerative colitis in a Middle Eastern population.

Revista Annals of Saudi medicine
Año 2013
Enlaces Pubmed DOI PubMed Central

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BACKGROUND AND OBJECTIVES: To compare the complications and outcome after ileal pouch-anal anastomosis (IPAA) for mucosal ulcerative colitis (MUC) and familial adenomatous polyposis (FAP). DESIGN AND SETTINGS: This is a retrospective study. The study was conducted at a single tertiary referral center. METHODS: All patients who underwent restorative proctocolectomy with IPAA at a tertiary center in Saudi Arabia from 2001 till 2009 were retrieved. Data was obtained regarding preoperative status, postoperative complications, and functional outcome. RESULTS: A total of 40 patients underwent IPAA, of which 21 cases were of FAP and 19 cases of MUC. Median age at operation for FAP and MUC was 31 (range: 16-45) and 43 (range: 15-65) years, respectively (P < .05). Median length of stay was 10 days (range: 6-42) for FAP and 12 days (range: 9-27) for MUC (P=.1). Postoperative morbidity was noted in 4 cases of FAP and 6 cases of MUC (P=.36). Specifically, wound infection was noted in 2 cases of FAP compared to 3 cases of MUC (P=.55); 1 MUC case had an anastomotic leak (P=.29). One mortality was recorded among the FAP cases (P=.35). The time between the creation of IPAA and the closure of ileostomy was 4.5 and 5 months for FAP and MUC, respectively (P=.87). Median follow-up was 36 months. Median bowel frequency per 24 hours was 6 (range: 3-24) for FAP and 7 (range 3-17) for MUC (P=.54). Intestinal obstruction was reported in 3 cases of FAP and 5 cases of MUC (P=.38). One pouch was excised in a FAP patient. One case of MUC developed pouchitis. CONCLUSIONS: The outcome after IPAA was inferior for MUC compared to FAP, but it was not statistically significant due to the small sample size. The morbid status of the MUC cases and their older age contributed to the minor differences.