RESUMO
BACKGROUND: Attenuated familial adenomatous polyposis is characterised by low number (≤100) and delayed development of colorectal adenomas. Various definitions have been used, and genotype-phenotype correlations have been suggested. OBJECTIVE: We aimed to evaluate phenotypic and genotypic correlation in patients with presumed attenuated familial adenomatous polyposis and assess familial variability. DESIGN: This is a retrospective study. SETTINGS: This study was conducted at a tertiary polyposis registry. PATIENTS: Individuals with attenuated familial adenomatous polyposis were identified. Phenotypic group was defined as 100 or fewer adenomas at age 25 years and genotypic group was defined as a variant in the adenomatous polyposis coli region associated with attenuated familial adenomatous polyposis. Pathology polyp count was used for patients who had undergone surgery and endoscopic polyp count for those with intact colon. MAIN OUTCOME MEASURES: We evaluated phenotypic and genotypic correlation in patients with presumed attenuated familial adenomatous polyposis and familial variability. RESULTS: A total of 69 patients were identified in the phenotypic group, of whom 54 (78%) had a pathogenic variant in the attenuated regions of the adenomatous polyposis coli gene. Forty-eight (70%) had intact colon (median age at last colonoscopy 43 [25-73] years; median endoscopic polyp count 20 [0-100]) and 21 (30%) had undergone colectomy (median age at surgery 45 [25-54] years; median pathology polyp count 43 [3-100]). Eighty-three patients were identified in the genotypic group of which 54 (65%) had attenuated phenotype. Inter- and intrafamilial variability were observed. LIMITATIONS: This study was limited by its retrospective nature and single-center experience. CONCLUSION: Phenotype in familial adenomatous polyposis lies on a spectrum and is determined in part by genotype and age at adenoma count. Diagnosis of attenuated familial adenomatous polyposis should be based on phenotype; genotype is not a reliable indicator. Management should be personalized according to the phenotype of each individual. See Video Abstract at http://links.lww.com/DCR/B775. POLIPOSIS ADENOMATOSA FAMILIAR ATENUADA UN DIAGNSTICO FENOTPICO PERO TRMINO OBSOLETO: ANTECEDENTES:La poliposis adenomatosa familiar atenuada se caracteriza por un número bajo (≤100) y desarrollo retardado de adenomas colorrectales. Se han utilizado varias definiciones y se han sugerido correlaciones genotipo-fenotipo.OBJETIVO:Nuestro objetivo es evaluar la correlación fenotípica y genotípica en pacientes con presunta poliposis adenomatosa familiar atenuada y evaluar la variabilidad familiar.DISEÑO:Este es un estudio retrospectivo.AJUSTE:Este estudio se realizó en un registro terciario de poliposis.PACIENTES:Se identificaron individuos con poliposis adenomatosa familiar atenuada. El grupo fenotípico se definió como ≤100 adenomas a la edad de 25 años y el grupo genotípico se definió como una variante en la región de poliposis coli adenomatosa asociada con poliposis adenomatosa familiar atenuada. Se utilizó el recuento de pólipos en patología para los pacientes que se habían sometido a cirugía y el recuento de pólipos endoscópico para los que tenían el colon intacto.PRINCIPALES MEDIDAS DE RESULTADO:Evaluamos la correlación fenotípica y genotípica en pacientes con presunta poliposis adenomatosa familiar atenuada y variabilidad familiar.RESULTADOS:Un total de 69 pacientes se identificaron en el grupo fenotípico de los cuales 54 (78%) tenían una variante patogénica en las regiones atenuadas del gen de la poliposis coli adenomatosa. Cuarenta y ocho (70%) tenían colon intacto (edad media en la última colonoscopia 43 [25-73] años; mediana del recuento de pólipos endoscópicos 20 [0-100]) y 21 (30%) se habían sometido a colectomía (edad edia en el momento de la cirugía 45 [25-54] años; mediana del recuento de pólipos patológicos 43 [3-100]). Se identificaron 83 pacientes en el grupo genotípico de los cuales 54 (65%) tenían fenotipo atenuado. Se observó variabilidad inter e intrafamiliar.LIMITACIONES:Este estudio estuvo limitado por su naturaleza retrospectiva y la experiencia de un solo centro.CONCLUSIÓNES:El fenotipo en la poliposis adenomatosa familiar se encuentra en un espectro, determinado en parte por el genotipo y la edad en el momento del recuento de adenomas. El diagnóstico de poliposis adenomatosa familiar atenuada debe basarse en el fenotipo; el genotipo no es un indicador confiable. El manejo debe personalizarse según el fenotipo de cada individuo. Consulte Video Resumen en http://links.lww.com/DCR/B775.
Assuntos
Adenoma , Polipose Adenomatosa do Colo , Neoplasias Colorretais , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/cirurgia , Neoplasias Colorretais/patologia , Humanos , Fenótipo , Estudos RetrospectivosRESUMO
AIM: Percutaneous endoscopic colostomy (PEC) represents an important intervention in specific patients. Limited data currently exist. We present the largest recorded study of patients undergoing PEC. METHODS: Retrospective analysis of consultant logbooks highlighted all patients from 1997 to 2020. Two independent reviewers assessed records. Parameters measured were age, sex, indication, number of sites, complications, mortality and survival. Three subgroups were identified: recurrent sigmoid volvulus (RSV), pseudo-obstruction and neurogenic. ANOVA, chi-squared and Fischer's exact tests were utilized; Kaplan-Meier curves estimated survival and the log-rank test was applied. A p value of <0.05 was considered statistically significant. RESULTS: Ninety-six PEC insertions were done on 91 patients (five reinsertions). There were 66 men (69%) and the mean age was 73.1 years (interquartile range 23). The indications were RSV n = 72, pseudo-obstruction n = 13, neurogenic n = 11. The 30-day complication rate was overall n = 27 (28%), RSV n = 23, pseudo-obstruction n = 4. Nine patients leaked (9.9%) (eight RSV, one pseudo-obstruction), of whom five died. 90-day mortality was 14.6% (14 patients), 18.5% (13/72) for RSV, 7.7% (1/13) for pseudo-obstruction. Overall recurrence following PEC was 10.4%. The median follow-up was 25 months (interquartile range 4.6-62.2 months). At 3, 5 and 10 years survival was 46%, 34% and 26% for RSV, 70%, 55% and 15% for pseudo-obstruction and 91%, 91% and 81% for neurogenic respectively. CONCLUSION: Recurrent sigmoid volvulus and pseudo-obstruction patients undergoing PEC compared to neurogenic patients have poorer outcomes with higher complication rates and shorter life expectancy. We advocate that high volume specialist units undertake PEC. The significant associated risks of PEC require careful consideration when determining patient suitability. Utilizing risk stratification scores may help guide shared decision making between patients, relatives and clinicians.
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Volvo Intestinal , Doenças do Colo Sigmoide , Masculino , Humanos , Idoso , Colostomia , Volvo Intestinal/cirurgia , Doenças do Colo Sigmoide/cirurgia , Estudos Retrospectivos , EndoscopiaRESUMO
AIM: Total colectomy with ileorectal anastomosis (TC-IRA) is a surgical option for patients with familial adenomatous polyposis (FAP). Regular endoscopic surveillance of the rectum is recommended to prevent rectal cancer. We aimed to document polyp progression in the rectum following TC-IRA and evaluate the role of polypectomy during surveillance. METHOD: Patients with FAP who underwent TC-IRA between 1990 and 2017 were identified. Demographic, endoscopic and genetic data were retrieved. Cumulative rectal adenoma (polyp) counts were obtained, whilst accounting for any polypectomies during the study period. The rate of polyp progression and factors influencing secondary proctectomy were evaluated. RESULTS: One hundred and ninety-nine patients fulfilled our inclusion criteria, of which 44% were male. The median age at colectomy was 19 (range 11-70) years and median preoperative rectal polyp count was 7 (range 0-50). All patients had an APC pathogenic variant, of which 151 (79%) were 5' of the mutation cluster region (MCR), 19 (10%) in the MCR, six (3%) were 3' of the MCR and 15 (8%) had a gross deletion. After a median follow-up of 8.6 (range1-27) years and a median of 11 (range 2-37) flexible sigmoidoscopies per patient, the median rate of polyp progression was 5.5 polyps/year (range 0-70.2). There was no evidence of polyp regression. Eight (4%) patients underwent secondary proctectomy for neoplasia, of which one (0.5%) had rectal adenocarcinoma. A total of 13,527 polyps were removed, a median of 35 polyps/patient (range 0-829). The rate of polyp progression was not significantly associated with genotypic or phenotypic factors. CONCLUSION: Progression of rectal adenoma burden following TC-IRA appears to be slow and dependent on the length of follow-up. In the modern era of stringent endoscopic surveillance and therapeutic procedures such as cold snare polypectomy, the rate of secondary proctectomy and the risk of rectal cancer after TC-IRA are very low. These findings are important when counselling patients with regard to the choice of surgery for FAP and implementing endoscopic surveillance.
Assuntos
Adenoma , Polipose Adenomatosa do Colo , Pólipos do Colo , Neoplasias Retais , Adenoma/cirurgia , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/cirurgia , Adolescente , Adulto , Idoso , Anastomose Cirúrgica , Criança , Colectomia , Pólipos do Colo/cirurgia , Colonoscopia , Humanos , Íleo/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/cirurgia , Reto/cirurgia , Adulto JovemRESUMO
BACKGROUND: Patients with familial adenomatous polyposis (FAP) are at increased risk of developing gastric adenomas. There is limited understanding of their clinical course and no consensus on management. We reviewed the management of gastric adenomas in patients with FAP from two centers. METHODS: Patients with FAP and histologically confirmed gastric adenomas were identified between 1997 and 2018. Patient demographics, adenoma characteristics, and management/surveillance outcomes were collected. RESULTS: Of 726 patients with FAP, 104 (14â%; 49 female) were diagnosed with gastric adenomas at a median age of 47 years (range 19â-â80). The median size of gastric adenomas was 6âmm (range 1.5â-â50); 64 (62â%) patients had adenomas located distally to the incisura. Five patients (5â%) had gastric adenomas demonstrating high-grade dysplasia (HGD) on initial diagnosis, distributed equally within the stomach. The risk of HGD was associated with adenoma size (Pâ=â0.04). Of adenomasâ>â20âmm, 33â% contained HGD. Two patients had gastric cancer at initial gastric adenoma diagnosis. A total of 63 patients (61â%) underwent endoscopic therapy for gastric adenomas. Complications occurred in three patients (5â%) and two (3â%) had recurrence, all following piecemeal resection of large (30â-â50âmm) lesions. Three patients were diagnosed with gastric cancer at median follow-up of 66 months (range 66â-â115) after initial diagnosis. CONCLUSIONS: We observed gastric adenomas in 14â% of patients with FAP. Of these, 5â% contained HGD; risk of HGD correlated with adenoma size. Endoscopic resection was feasible, with few complications and low recurrence rates, but did not completely eliminate the cancer risk.
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Adenoma , Polipose Adenomatosa do Colo , Neoplasias Gástricas , Adenoma/cirurgia , Polipose Adenomatosa do Colo/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Neoplasias Gástricas/cirurgia , Adulto JovemRESUMO
OBJECTIVES: Prophylactic colectomy at a premalignant stage is the cornerstone of management of familial adenomatous polyposis (FAP). Before surgery, colonoscopy surveillance is recommended in children with FAP. This study aimed to examine the natural history of FAP in children by evaluating adenoma progression and factors influencing timing of colectomy. METHOD: Patients with FAP younger than 18 years at first surveillance colonoscopy and who had undergone more than 1 colonoscopy were identified. Demographic, endoscopic, genetic, and surgical data were retrieved. Cumulative adenoma (polyp) counts were obtained while accounting for any polypectomies during the study period. The rate of polyp progression and factors influencing the timing of colectomy were evaluated. RESULTS: Eighty-four patients (50% boys; mean age at first colonoscopy 13 years [standard deviation 1.97]) were identified, of which 83 had a family history of FAP. At first colonoscopy, 67 (79%) had <100 adenomas and 29 (35%) had colonic polyps identified despite rectal sparing. The median rate of polyp progression per patient was 12.5âpolyps/year (range 0-145). Of the 45 (54%) patients who had undergone surgery, 41 (91%) underwent colectomy with ileorectal or ileodistal sigmoid anastomosis. Polyp progression did not alter the choice of surgical intervention in any patient. CONCLUSION: Our results suggest that adenoma number remains relatively stable in the majority of children under surveillance. Tailored surveillance intervals according to phenotype are a more appropriate strategy as recommended by recently published guidelines.
Assuntos
Polipose Adenomatosa do Colo , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/cirurgia , Anastomose Cirúrgica , Criança , Colectomia , Colonoscopia , Feminino , Humanos , Masculino , RetoRESUMO
OBJECTIVES: To determine whether modified transperineal template prostate-mapping (TTPM) biopsy protocols, altering the template or the biopsy density, have sensitivity and negative predictive value (NPV) equal to full 5-mm TTPM. PATIENTS AND METHODS: Retrospective analysis of an institutional registry including treatment-naïve men undergoing 5-mm TTPM biopsy analysed in a 20-zone fashion. The value of three modified strategies was assessed by comparing the information provided by selected zones against full 5-mm TTPM. Strategy 1, did not consider the findings of anterior areas; strategies 2 and 3 simulated a reduced biopsy density by excluding intervening zones. A bootstrapping technique was used to calculate reliable estimates of sensitivity and NPV of these three strategies for the detection of clinically significant disease (maximum cancer core length ≥4 mm and/or Gleason score ≥3 + 4). RESULTS: In all, 391 men with a median (interquartile range, IQR) age of 62 (58-67) years were included. The median (IQR) PSA level and PSA density were 6.9 (4.8-10) ng/mL and 0.17 (IQR 0.12-0.25) ng/mL/mL, respectively. A median (IQR) of 6 (2-9) cores out of 48 (33-63) taken per man were positive for prostate cancer. No cancer was detected in 67 men (17%), whilst low-, intermediate- and high-risk disease was identified in 78 (20%), 80 (21%), and 166 (42%), respectively. Strategy 1, 2 and 3 had sensitivities of 78% [95% confidence interval (CI) 73-84%], 85% (95% CI 80-90%) and 84% (95% CI 79-89%), respectively. The NPVs of the three strategies were 73% (95% CI 67-80%), 80% (95% CI 74-86%) and 79% (95% CI 72-84%), respectively. CONCLUSION: Altering the template or decreasing sampling density has a substantial negative impact on the ability of TTPM biopsy to exclude clinically significant disease. This should be considered when modified TTPM biopsy strategies are used to select men for tissue-preserving approaches, and when modified TTPM are used to validate new diagnostic tests.
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Próstata/patologia , Neoplasias da Próstata/patologia , Idoso , Biópsia/métodos , Protocolos Clínicos , Humanos , Masculino , Pessoa de Meia-Idade , Períneo , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
PURPOSE: The natural history of prostate cancer might be driven by the index lesion. We determined the percent of men in whom the index lesion could be defined using transperineal template prostate mapping biopsies. MATERIALS AND METHODS: Included in study were consecutive men undergoing transperineal template prostate mapping biopsies with biopsies grouped into 20 zones. Men with clinically significant disease in only 1 prostate area were considered to have an identifiable index lesion. We evaluated the impact of using 2 definitions of clinically significant disease (Gleason grade pattern 4 and/or lesion volume 0.5 cc or greater) and 2 clustering rules (stringent and tolerant) to define the index lesion. RESULTS: Included in study were 391 men with a median age of 62 years (IQR 58-67) and a median prostate specific antigen of 6.9 ng/ml (IQR 4.8-10.0). Of the men 269 (69%) were previously diagnosed with prostate cancer. By deploying a median of 1.2 cores per ml (IQR 0.9-1.7) cancer was diagnosed in 82.9% of the men (324 of 391) with a median of 6 positive cores (IQR 2-9), a median maximum cancer core length of 5 mm (IQR 3-8) and a total cancer core length per zone of 7 mm (IQR 3-13). Insignificant disease was found in 26.3% to 42.9% of cases. When a stringent spatial relationship was used to define individual lesions, 44.4% to 54.6% of patients had 1 index lesion and 12.7% to 19.1% had more than 1 area with clinically significant disease. These proportions changed to 46.6% to 59.2% and 10.5% to 14.5%, respectively, when less stringent spatial clustering was applied. CONCLUSIONS: Transperineal template prostate mapping biopsies enable the index lesion to be localized in most men with clinically significant disease. This information may be important to select appropriate candidates for targeted therapy and to plan a tailored treatment strategy in men undergoing radical therapy.
Assuntos
Próstata/patologia , Neoplasias da Próstata/patologia , Idoso , Biópsia/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos UrológicosRESUMO
Locally advanced colorectal tumors constitute to about 5-22% of all colorectal cancers at the time of presentation. Multi-visceral resection is usually required for such cases in order to achieve curative resection (R0). We aim to present our experience of right and transverse colonic en bloc resections and their outcomes. Retrospective review of a prospective database between February 2008 and December 2014. Case notes, operative findings, histopathology results, and follow-up records were analyzed. A total of 23 patients underwent en bloc multi-visceral resections for locally advanced right-sided or transverse colonic cancers. There were 11 males and 12 females. The mean age was 75 years. Fifteen patients were operated electively and eight were done as emergency. Median follow-up was 36 months. Eleven out of 23 (47%) had more than one organ resected. 78.3% had R0 resections, 17.4% were R1, and 4.3% were indeterminate. The average lymph node yield was 22 [range 5-45]. Senior trainees under supervision did 65% of procedures. Twelve-month disease-free survival was 90% and the 5-year survival was 65%. Right-sided and transverse colonic tumors have a propensity to become locally advanced making curative resections challenging. This is especially relevant when these patients present as an emergency or if the surgeon is less experienced and may opt for a palliative procedure, thus leading to suboptimal outcomes. Multi-visceral resections for locally advanced tumors can be feasible in the district general hospital setting with acceptable outcomes. Multi-disciplinary meeting (MDM) process, adequate training, and experience are vital.
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Optimal management of patients with an entercocutaneous fistula (ECF) requires utilization of the sepsis, nutrition, anatomy, and surgical procedure (SNAP) protocol. The protocol includes early detection and treatment of sepsis, optimizing patient nutrition through oral and parenteral routes, identifying the fistula anatomy, optimal fistula management, and proceeding to corrective surgery when appropriate. The protocol requires multidisciplinary team (MDT) coordination among surgeons, nurses, dietitians, stoma nurses, and physiotherapists. This case study describes a 70-year-old man who developed an ECF subsequent to a laparotomy for a small bowel obstruction. Following a period of ileus, 16 days post laparotomy the patient developed a high-output (2,000 mL per day) fistula. The patient also became pyrexial with raised inflammatory markers, requiring antibiotic treatment. Following development of his ECF, he was managed using the SNAP protocol for the duration of his admission; however, in implementing this protocol with this patient, clinicians noted fluid charts were inadequate to allow effective management of the variables. Thus, a new pro-forma was created that encompassed fluid balance, nutritional status, and pertinent blood test results, as well as perifistular skin condition, medication, and documentation of management plans from the MDT team. The pro-forma was recorded daily in the patient notes. Following implementation of the pro-forma and the SNAP protocol, the patient recovered well clinically over a period of 4 weeks with a decrease in his fistula output to 300-500 mL per day, and he was discharged with plans for further corrective surgery to resect the fistula and for bowel re-anastomoses. Although fluid charts are readily available, they do not include all pertinent variables for optimal management of patients with an ECF. Further research is needed to validate the pro-forma and evaluate its effect on patient outcomes.
Assuntos
Guias como Assunto , Fístula Intestinal/terapia , Equipe de Assistência ao Paciente/tendências , Idoso , Humanos , MasculinoRESUMO
A 67-year-old woman with non-insulin dependent diabetes mellitus with a history consistent with a right axillary abscess, presented to her general practitioner (GP). A diagnosis of folliculitis was made and the GP started a course of flucloxacillin. Despite antibiotics, the patient's symptoms worsened and the abscess increased in size. This prompted her GP to perform an incision and drainage procedure of the abscess. The practice nurse subsequently oversaw the follow-up care of the wound. Two months after the incision and drainage, and after regular wound dressing, the patient was referred to the acute surgical team with a complicated, non-healing right axillary abscess cavity and associated generalised right breast cellulitis. There was no history of breast symptoms prior to the onset of the axillary abscess. The patient underwent wound debridement, washout and application of negative pressure vacuum therapy. Biopsies revealed primary breast lymphoma (B-cell). She underwent radical chemotherapy and is currently in remission.
Assuntos
Abscesso/diagnóstico , Axila/patologia , Neoplasias da Mama/diagnóstico , Mama/patologia , Linfoma de Células B/diagnóstico , Abscesso/etiologia , Abscesso/terapia , Idoso , Linfócitos B , Neoplasias da Mama/complicações , Neoplasias da Mama/patologia , Celulite (Flegmão)/diagnóstico , Celulite (Flegmão)/etiologia , Celulite (Flegmão)/terapia , Desbridamento , Drenagem , Empiema Pleural/diagnóstico , Empiema Pleural/etiologia , Empiema Pleural/terapia , Feminino , Foliculite/diagnóstico , Humanos , Linfoma de Células B/complicações , Linfoma de Células B/patologia , CicatrizaçãoRESUMO
BACKGROUND: Focal therapy is being offered as a viable alternative for men with localised prostate cancer (PCa), but it is unclear which men may be suitable. OBJECTIVE: To determine the proportion of men with localised PCa who are potentially suitable for focal therapy. DESIGN, SETTING, AND PARTICIPANTS: Our institutional transperineal template prostate-mapping (TTPM) biopsy registry of 377 men from 2006 to 2010 identified 291 consecutive men with no prior treatment. INTERVENTION: TTPM biopsies using a 5-mm sampling frame. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Suitability for focal therapy required the cancer to be (1) unifocal, (2) unilateral, (3) bilateral/bifocal with at least one neurovascular bundle avoided, or (4) bilateral/multifocal with one dominant index lesion and secondary lesions with Gleason ≤3 + 3 and cancer core involvement ≤3 mm. Binary logistic regression modelling was used to determine variables predictive for focal therapy suitability. RESULTS AND LIMITATIONS: The median age was 61 yr, and the median prostate-specific antigen was 6.8 ng/ml. The median total was 29 cores, with a median of 8 positive cores. Of 239 of 291 men with cancer, 29% (70 men), 60% (144 men), and 8% (20 men) had low-, intermediate-, and high-risk PCa, respectively. Ninety-two percent (220 men) were suitable for one form of focal therapy: hemiablation (22%, 53 men), unifocal ablation (31%, 73 men), bilateral/bifocal ablation (14%, 33 men), and index lesion ablation (26%, 61 men). Binary logistic regression modelling incorporating transrectal biopsy parameters showed no statistically significant predictive variable. When incorporating TTPM parameters, only T stage was a significant negative predictor for suitability (p=0.001) (odds ratio: 0.001 [95% confidence interval, 0.000-0.048]). Limitations of the study include potential selection bias caused by tertiary referral practise and lack of long-term results on focal therapy efficacy. CONCLUSIONS: Focal therapy requires an accurate tool to localise individual cancer lesions. When such a test, TTPM biopsy, was applied to men with low- and intermediate-risk PCa, most of the men were suitable for a tissue preservation strategy.