Estudios primarios relacionados a este tópico

loading
161 Referencias (161 articles) Revertir Estudificar

Estudio primario

No clasificado

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

Revista Annals of surgery
Año 2017
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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

No clasificado

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

Revista American journal of surgery
Año 2017
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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

No clasificado

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
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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

No clasificado

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
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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

No clasificado

Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature.

Revista Annals of surgical oncology
Año 2015
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
BACKGROUND: There are few large-scale studies that have examined outcomes for BRCA1/2 carriers who have undergone nipple-sparing mastectomy (NSM). The objective of our study was to examine incidental cancers, operative complications, and locoregional recurrences in BRCA1/2 mutation carriers who underwent NSM for both risk reduction and cancer treatment. METHODS: This was a retrospective review of pathology results and outcomes of 201 BRCA1/2 carriers from two different institutions who underwent NSM from 2007 to 2014. RESULTS: NSM was performed in 397 breasts of 201 BRCA1/2 carriers. One hundred and twenty-five (62.2 %) patients had a BRCA1 mutation and 76 (37.8 %) had a BRCA2 mutation; 150 (74.6 %) patients underwent NSM for risk reduction and 51 (25.4 %) for cancer. Incidental cancers were found in four (2.7 %) of the 150 risk-reduction patients and two (3.9 %) of the 51 cancer patients. The nipple-areolar complex (NAC) was involved with cancer in three (5.8 %) patients. No prophylactic mastectomy had a positive NAC margin. There was loss of the NAC in seven breasts (1.8 %) and flap necrosis in ten (2.5 %) breasts. With a mean follow-up of 32.6 months (1-76 months), there have been four cancer events-three in cancer patients and one in a risk-reduction patient but none at the NAC. CONCLUSION: NSM in BRCA1/2 carriers is associated with a low rate of complications and locoregional recurrence but these patients require long-term follow-up in both the cancer and risk-reduction setting.

Estudio primario

No clasificado

Nipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance.

Revista The British journal of surgery
Año 2015
Enlaces Pubmed DOI PubMed Central

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
BACKGROUND: Nipple-sparing mastectomy (NSM) is associated with improved cosmesis and is being performed increasingly. Its role in BRCA mutation carriers has not been well described. This was a study of the indications for, and outcomes of, NSM in BRCA mutation carriers. METHODS: BRCA mutation carriers who underwent NSM were identified. Details of patient demographics, surgical procedures, complications, and relevant disease stage and follow-up were recorded. RESULTS: A total of 177 NSMs were performed in 89 BRCA mutation carriers between September 2005 and December 2013. Twenty-six patients of median age 41 years had NSM for early-stage breast cancer and a contralateral prophylactic mastectomy. Mean tumour size was 1·4 (range 0·1-3·5) cm. Sixty-three patients of median age 39 years had prophylactic NSM, eight of whom had an incidental diagnosis of ductal carcinoma in situ. There were no local or regional recurrences in the 26 patients with breast cancer at a median follow-up of 28 (i.q.r. 15-43) months. There were no newly diagnosed breast cancers in the 63 patients undergoing prophylactic NSM at a median follow-up of 26 (11-42) months. All patients had immediate breast reconstruction. Five patients (6 per cent) required subsequent excision of the nipple-areola complex for oncological or other reasons. Skin desquamation occurred in 68 (38·4 per cent) of the 177 breasts, and most resolved without intervention. Debridement was required in 13 (7·3 per cent) of the 177 breasts, and tissue-expander or implant removal was necessary in six instances (3·4 per cent). CONCLUSION: NSM is an acceptable choice for patients with BRCA mutations, with no evidence of compromise to oncological safety at short-term follow-up. Complication rates were acceptable, and subsequent excision of the nipple-areola complex was rarely required.

Estudio primario

No clasificado

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

Revista American journal of clinical oncology
Año 2015
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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

No clasificado

Gene expression alterations in ulcerative colitis patients after restorative proctocolectomy extend to the small bowel proximal to the pouch.

Revista Gut
Año 2015
Enlaces Pubmed DOI

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
OBJECTIVES: To evaluate molecular profiles in the small bowel (SB) mucosa proximal to the pouch in ulcerative colitis (UC) patients after pouch surgery. DESIGN: Patients were prospectively recruited and stratified according to disease behaviour: normal pouch (NP), chronic pouchitis (CP), and Crohn's-like disease of the pouch (CLDP). Biopsies obtained from the pouch and the normal-appearing proximal SB (40 cm proximal to the anal verge) were compared to ileal biopsies from normal controls (NC). A histopathological score based on the degree of polymorphonuclear and mononuclear infiltrates was used to assess inflammation in the pouch and the proximal SB. Gene expression analysis was performed using microarrays, and validated by real-time PCR. Gene ontology and clustering were evaluated by bioinformatics. RESULTS: Thirty-six subjects were recruited (age 18-71 years, 16 males). Histopathology scores demonstrated minimal differences in the normal-appearing proximal SB of all groups. Nonetheless, significant (fold change ≥2, corrected p [FDR] ≤ 0.05) molecular alterations in the proximal SB were detected in all groups (NP n=9; CP n=80; and CLDP n=230) compared with NC. The magnitude of DUOX2 alteration in the proximal SB was highest. An increase of 6.0, 9.8 and 21.7 folds in DUOX2 expression in NP, CP, CLDP, respectively was observed. This was followed by alterations in MMP1, SLC6A14 and PGC. Gene alterations in the proximal SB overlapped with alterations within the pouch (76% and 97% overlap in CP and CLDP, respectively). Gene ontology analysis in the proximal SB and pouch were comparable. CONCLUSIONS: Significant gene expression alterations exist in an apparently unaffected proximal SB. Alterations in the pouch and the proximal SB were comparable, suggesting that inflammation may not be limited to the pouch, but that it extends to the proximal SB.

Estudio primario

No clasificado

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

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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

No clasificado

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

Este artículo está incluido en 1 Revisión sistemática Revisiones sistemáticas (1 referencia)

Cargando información sobre las referencias
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.