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1.
Colorectal Dis ; 22(8): 885-893, 2020 08.
Article in English | MEDLINE | ID: mdl-31976608

ABSTRACT

AIM: To compare the functional results and quality of life after delayed colo-anal anastomosis (DCAA) or immediate colo-anal anastomosis (ICAA) following redo rectal surgery. METHOD: Twenty-six patients with DCAA between 2014 and 2018 were studied retrospectively (group A). Two control groups were used: 26 ICAA after redo surgery (group B) and 52 colo-anal anastomosis (CAA) after anterior resection (group C). Control groups were matched for age, sex, pelvic radiotherapy and time to surgery. Low Anterior Resection Syndrome (LARS) and Gastrointestinal Quality of Life Index (GIQLI) scores were used to assess function and quality of life. RESULTS: The indications for surgery were comparable for groups A and B: anastomotic failure with chronic sepsis (38% vs 50%, P = 0.40), vaginal fistula (42% vs 42%, P = 1) and urinary fistula (20% vs 8%, P = 0.22) as well as the number of previous abdominal operations (1.3 ± 0.9 vs 1.1 ± 0.6, P = 0.19). The median LARS score in the first 2 years was 30 [interquartile range (IQR) 14-41] for group A, 23 (IQR 0-41) for group B and 22 (IQR 11-37) for group C. After 2 years, the median LARS score improved in each group [A, 21 (IQR 11-35); B, 18 (IQR 5-26); C, 13 (IQR 9-20)], but was still high in group A. There was a tendency toward more major LARS in group A than in group B (46% vs 27%; P = 0.149). There was no difference in the mean GIQLI score between groups A and B (120 ± 16 vs 117 ± 19; P = 0.53) at the end of the follow-up period. Time after stoma closure (< 2 years) and previous radiotherapy were risk factors for major LARS in all populations. CONCLUSION: ICAA should be the procedure of choice where possible in redo surgery as it has better functional outcomes.


Subject(s)
Quality of Life , Rectal Neoplasms , Anal Canal/surgery , Anastomosis, Surgical/adverse effects , Colon/surgery , Female , Humans , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Rectum/surgery , Retrospective Studies , Syndrome , Treatment Outcome
2.
Colorectal Dis ; 21(1): 15-22, 2019 01.
Article in English | MEDLINE | ID: mdl-30300969

ABSTRACT

AIM: Local excision is recommended for early rectal cancer (pT1). Complementary total mesorectal excision (cTME) is warranted when bad pathological features are present. The impact of a prior local resection on the outcome remains unclear. The aim of this study was to assess if prior local excision increases the morbidity of a subsequent cTME compared with primary TME. METHODS: From 2001 to 2016 all patients who underwent TME after local excision for rectal adenocarcinoma were studied. All were matched (1:1) with patients who underwent primary TME, without neoadjuvant radiochemotherapy. The matching factors included age, sex, body mass index, American Society of Anesthesiologists score and type of surgery. Short-term morbidity and pathological examination of the resected specimen were compared. RESULTS: Forty-one patients were included (14 women, 34%, mean age 65 ± 11 years), comprising classic transanal excision (66%) and transanal endoscopic microsurgery (34%), and were matched to 41 patients who had primary TME. cTME was significantly longer (315 min ± 87 vs 275 min ± 58, P = 0.03). The overall morbidity was 48.8% in the local excision group vs 31.7% in the control group (P = 0.18). Surgical morbidity was 31.7% vs 26.8% (P = 0.8). Anastomotic related morbidity was similar (local excision 17% vs TME 14.6%, P = 0.84) and the mean length of stay was similar (14 days) in both groups. There was a tendency to a worse quality of mesorectal excision in the cTME group (17% vs 5%, P = 0.15). CONCLUSION: Local excision prior to TME for early rectal cancer tends to increase overall morbidity and may worsen the quality of the mesorectal plane but should be considered as a surgical approach in select cases.


Subject(s)
Adenocarcinoma/surgery , Mesentery/surgery , Postoperative Complications/epidemiology , Proctectomy/methods , Rectal Neoplasms/surgery , Transanal Endoscopic Microsurgery/methods , Abdominal Abscess/epidemiology , Adenocarcinoma/pathology , Aged , Anastomotic Leak/epidemiology , Case-Control Studies , Female , Humans , Length of Stay/statistics & numerical data , Male , Middle Aged , Rectal Neoplasms/pathology , Reoperation , Retrospective Studies , Surgical Wound Infection/epidemiology , Transanal Endoscopic Surgery/methods
3.
Colorectal Dis ; 20(6): 509-519, 2018 06.
Article in English | MEDLINE | ID: mdl-29352518

ABSTRACT

AIM: The abdominal incision for specimen extraction could trigger postoperative pain after laparoscopic colorectal resections (LCRs). Continuous wound infusion (CWI) of ropivacaine may be a valuable option for postoperative analgesia. This study was undertaken to evaluate the potential benefits of ropivacaine CWI on pain relief, metabolic stress reaction, prevention of wound hyperalgesia and residual incisional pain after LCR. A subgroup with intravenous lidocaine infusion (IVL) was added to discriminate between the peripheral and systemic effects of local anaesthetic infusions. METHOD: Patients were randomly allocated to three subgroups: CWI (0.2% ropivacaine 10 ml/h for 48 h); IVL (lidocaine 1.5% at 4 ml/h for 48 h); control group. RESULTS: In all, 95 patients were randomized (86 patients analysed). Postoperative pain intensity did not differ significantly between groups. Within the first 24 h after surgery, morphine requirement was significantly lower in the CWI group compared with the IVL group, but there was no significant difference compared with the control group (P = 0.02 and P = 0.15, respectively). The area of hyperalgesia did not differ significantly between subgroups, nor did the hyperalgesia ratio which was 1.2 cm (0.0-6.7) vs 1.9 cm (0.4-4.0) vs 2.0 cm (0.5-7.0) in the CWI, IVL and control groups respectively (P = 0.35). The number of patients reporting residual incisional pain after 3 months (3/26 vs 4/23 vs 4/23 in the CWI, IVL and control groups respectively) did not differ significantly between the groups, nor did their metabolic stress reactions. CONCLUSION: Ropivacaine CWI at the site of the abdominal incision did not provide any significant benefit either on analgesia or on the prevention of wound hyperalgesia after LCR.


Subject(s)
Anesthetics, Local/administration & dosage , Colectomy/methods , Hyperalgesia/prevention & control , Laparoscopy/methods , Lidocaine/administration & dosage , Pain, Postoperative/drug therapy , Ropivacaine/administration & dosage , Surgical Wound , Adult , Aged , Analgesics, Opioid/therapeutic use , Double-Blind Method , Female , Humans , Infusions, Intralesional , Infusions, Intravenous , Male , Middle Aged , Morphine/therapeutic use , Stress, Physiological
4.
Colorectal Dis ; 20(9): O248-O255, 2018 09.
Article in English | MEDLINE | ID: mdl-29894583

ABSTRACT

AIM: The presence of tumour deposits (TDs) in colorectal cancer (CRC) is associated with poor prognosis. The seventh edition of TNM subclassified a new nodal stage, N1c, characterized by the presence of TDs without any concurrent positive lymph node (LN). It is not clear if the N1c category is or is not equal to LN metastasis. We aimed to examine the prevalence, characteristics and prognostic significance of this new subcategory. METHOD: Consecutive patients who underwent surgery for CRC in two centres (2011-2014) were analysed. N1 cM0 patients were matched against non-N1 cM0 (N0, N1a and N1b) patients for 3-year overall survival (OS) and disease-free survival (DFS). RESULTS: We identified 1122 patients with 648 (57.8%) colonic cancers. In 57 patients (5.1%), N1c status was associated with rectal cancers [rectum = 33/57 (57.9%) vs colon = 24/57 (42.1%); P = 0.029], a higher pathological tumour stage [pT3-T4 N1c = 55/843 (6.5% vspT3-T4 non-N1c = 2/279 (0.7%); P < 0.0001] and vascular emboli [n = 35 (61.4%) vs n = 552 (51.8%); P = 0.0305]. Synchronous metastasis was observed in 23 cases (40%). After a mean follow-up of 31 months, 3-year OS for M0 patients, was 89.4%, 89.1%, 86.6% and 81.8% for N0, N1a, N1b and N1c tumours, respectively. DFS was significantly worse for N1c than for N0 (P = 0.0169), with N1c status having a significant effect on DFS in colonic cancers (P = 0.014). The presence of more than one TD was associated with a significantly worse DFS (P = 0.021). CONCLUSION: Our results indicate that N1c CRC patients should be included among high-risk patients for whom it is widely accepted that adjuvant chemotherapy should be considered.


Subject(s)
Chemoradiotherapy, Adjuvant/methods , Colectomy/methods , Colorectal Neoplasms/mortality , Colorectal Neoplasms/pathology , Neoadjuvant Therapy/methods , Adult , Aged , Biopsy, Needle , Cohort Studies , Colectomy/adverse effects , Colectomy/mortality , Colorectal Neoplasms/therapy , Combined Modality Therapy , Disease-Free Survival , Female , Humans , Immunohistochemistry , Kaplan-Meier Estimate , Logistic Models , Male , Middle Aged , Neoplasm Grading , Neoplasm Invasiveness/pathology , Postoperative Complications/mortality , Postoperative Complications/physiopathology , Prognosis , Retrospective Studies , Risk Assessment , Statistics, Nonparametric , Survival Analysis , Time Factors
5.
Colorectal Dis ; 19(1): 27-37, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27253882

ABSTRACT

AIM: The only studies on the prognosis of T1 tumours are old and investigate colic and rectal cancers. Very few studies use Kikuchi's classification (of dividing submucosa into three strata) to evaluate the depth of the submucosal invasion. This study aimed to assess the pathological risk factors for lymph node metastasis (LNM), and the pathological and oncological results of patients with early rectal cancer (ERC, pT1 tumour). METHOD: Between 2000 and 2014, 91 consecutive patients undergoing surgery [primary total mesorectal excision (TME) or local excision (LE) alone, or LE followed by TME] for ERC were included. RESULTS: Eighteen patients underwent LE, 22 underwent LE followed by TME and 51 underwent primary total TME. After TME (n = 73), 16 (23%) patients had LNM. The LNM rate was 15% for Sm1 tumours, 14% for Sm2 tumours and 30% for Sm3 tumours. In multivariate analysis, lymphovascular invasion (P = 0.027) and high tumour budding (P = 0.037) were the only independent factors predictive of LNM. The depth of submucosal invasion was not associated with an increased risk of LNM. After a mean follow up of 56 ± 46 months, 5-year overall survival, specific survival and disease-free survival were, respectively, 82%, 93% and 75%. No significant difference of survival was found according to the depth of submucosal invasion or to the surgical management. CONCLUSION: Histological features seem to be stronger risk factors for LNM than depth of submucosal invasion. Considering the LNM rate, TME should be discussed after LE in terms of one of these pathological criteria.


Subject(s)
Early Detection of Cancer/statistics & numerical data , Intestinal Mucosa/pathology , Lymph Nodes/pathology , Rectal Neoplasms/diagnosis , Aged , Disease-Free Survival , Early Detection of Cancer/methods , Endoscopic Mucosal Resection/methods , Female , Follow-Up Studies , Humans , Intestinal Mucosa/surgery , Lymph Nodes/surgery , Lymphatic Metastasis , Male , Middle Aged , Multivariate Analysis , Neoplasm Invasiveness/diagnosis , Neoplasm Invasiveness/pathology , Neoplasm Staging , Rectal Neoplasms/pathology , Rectal Neoplasms/surgery , Risk Factors , Transanal Endoscopic Surgery/methods
6.
Colorectal Dis ; 18(2): 205-13, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26299627

ABSTRACT

AIM: Correlation between outcome and hospital volume regarding colorectal resection (CRR) has been described, but it suggests that provider variability may have an impact. Our aim was to analyse the influence of institutional characteristics and the impact of volume [high volume (HV) or low volume (LV)] on mortality and morbidity after CRR at a national level. METHOD: Data from 2009-2012, including patient demographics, diagnosis, procedure, mode of admission and discharge and hospital type, were obtained. Each hospital admission was classified as one of four levels of severity. RESULTS: Of 176,444 patients included, 5408 (3.06%) died and 41,240 (23.37%) had a complication. Multivariate analysis showed that factors influencing morbidity were age over 80 years, severity level, pathology other than diverticular disease, male gender, demanding surgery, open surgery and surgery in an HV institution. Factors influencing mortality were the same except for the impact of volume. In HV centres, surgery was significantly more demanding (54.66% vs 47.17%, P < 0.0001), morbidity more frequent (26.59% vs 22.07%, P < 0.0001), but mortality was lower (2.17% vs 3.43%, P < 0.0001). In total, 6038 (3.4%) patients were transferred after surgery. Transfer rate and mortality after transfer were significantly higher in LV institutions (respectively: 4.3% vs 2.5%, P < 0.0001; and 12% vs 10.3%, P < 0.0001). CONCLUSION: High volume centres have higher morbidity, but lower mortality. Six per cent of patients in LV centres required transfer. A national mortality rate after CRR of 3.5% can be expected. Transfer rate and mortality after transfer should be included in the evaluation of institutional mortality. Volume of institution, regardless of type, influences mortality after CRR.


Subject(s)
Colectomy/adverse effects , Colectomy/mortality , Hospital Mortality , Hospitals, High-Volume/statistics & numerical data , Hospitals, Low-Volume/statistics & numerical data , Adult , Age Factors , Aged , Aged, 80 and over , Databases, Factual , Female , France/epidemiology , Humans , Male , Middle Aged , Morbidity , Patient Transfer/statistics & numerical data , Risk Factors , Sex Factors
8.
Colorectal Dis ; 17(10): 922-8, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25808350

ABSTRACT

AIM: The best form of prophylactic management of a decompressed sigmoid volvulus (SV) is controversial especially in the elderly. We have studied our experience with this condition to assess the short- and long-term results of SV management. METHOD: All patients treated for SV in our department between 2003 and 2013 were retrospectively included. Emergency decompression was attempted in all patients in whom there was no sign of peritonitis. Planned surgical resection was the procedure of choice in young patients. Percutaneous endoscopic colopexy (PEC) was used in high surgical risk patients. RESULTS: There were 65 patients (45 males) of median age 71.5 (24-99) years. Non-surgical reduction was performed in 62 with a success rate of 95% (59/62). Recurrence after initial decompression was 67% at a median follow-up of 5 (1-14) years. A prophylactic surgical resection was performed with primary anastomosis in 33 patients. There were no deaths and the major morbidity rate was 6%. At a mean follow-up of 62 months, only 1 (3%) patient had had a recurrence (at 130 months). PEC was performed in six patients of median age 90 (84-99) years and with a median American Society of Anesthesiologists score of 4. Complications included local site infection (n = 2), pain (n = 1) and abdominal wall bleeding (n = 1). After a median follow-up of 2 (1-4) years, three patients died from medical causes and one recurrence occurred 13 months after removal of the PEC tube. CONCLUSION: Prophylactic treatment after initial decompression of SV results in a low rate of recurrence. Planned sigmoid resection is safe and effective. In frail elderly patients, PEC is satisfactory.


Subject(s)
Colectomy/methods , Colon, Sigmoid/surgery , Decompression, Surgical/methods , Intestinal Volvulus/surgery , Acute Disease , Adult , Age Factors , Aged , Aged, 80 and over , Anastomosis, Surgical , Cohort Studies , Colon, Sigmoid/physiopathology , Colonoscopy/methods , Emergency Treatment , Female , Follow-Up Studies , Humans , Intestinal Volvulus/diagnosis , Intestinal Volvulus/mortality , Male , Middle Aged , Minimally Invasive Surgical Procedures/methods , Retrospective Studies , Risk Assessment , Sex Factors , Statistics, Nonparametric , Treatment Outcome , Young Adult
9.
Colorectal Dis ; 16(8): O288-96, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24428330

ABSTRACT

AIM: Total/subtotal colectomy with ileorectal (IRA) or ileosigmoid (ISA) anastomosis is associated with various reported rates of morbidity, function and quality of life. Our object was to determine these end-points in a series of patients undergoing these operations in our institution. METHOD: All patients who underwent IRA or ISA between 1994 and 2009 were retrospectively reviewed. RESULTS: A total of 320 patients (female 49%) with a median age of 54.2 (16.8-90.6) years underwent 338 IRA or ISA (in 18 patients the anastomosis was done twice) for inflammatory bowel disease (n = 96), polyposis (n = 95) and colorectal cancer (n = 97). Mortality and morbidity rates were 1.2% (n = 4) and 19.5% (n = 66) and 47 surgical complications (13.9%) occurred, including 26 (7.7%) cases of anastomotic leakage, leading to 23 re-operations. After a median follow-up of 49 (0-196) months, 262 patients still had a functioning anastomosis; 45 patients had died and 13 had a proctectomy. Information on function was obtained in 51.4% (133/259) of the cohort after a median follow-up of 77 (10-196) months. The mean (± standard deviation) rates of 24 h and nocturnal defaecation were 3.6 ± 2.4 and 0.5 ± 0.9. A disturbance of faecal or flatus continence occurred in 20% and 21% of patients. There was no case of faecal incontinence to solid stool. The mean SF-36 Physical and Mental Health Summary Scales were 46.3 ± 9.3 and 51.9 ± 9.3. Multivariate analysis showed that IRA and inflammatory bowel disease were both independently associated with poorer long-term function. CONCLUSION: Colectomy with IRA or ISA is safe with low postoperative morbidity and mortality. The employment of IRA and inflammatory bowel disease appear to be independent negative factors on function in multivariate analysis.


Subject(s)
Colectomy/adverse effects , Colectomy/methods , Colon, Sigmoid/surgery , Ileum/surgery , Postoperative Complications/epidemiology , Quality of Life , Rectum/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Anastomosis, Surgical/adverse effects , Anastomosis, Surgical/methods , Anastomotic Leak/epidemiology , Colorectal Neoplasms/surgery , Fecal Incontinence/epidemiology , Female , Follow-Up Studies , Humans , Inflammatory Bowel Diseases/surgery , Intestinal Polyposis/surgery , Male , Middle Aged , Multivariate Analysis , Postoperative Complications/mortality , Postoperative Complications/psychology , Reoperation , Retrospective Studies , Treatment Outcome , Young Adult
10.
ESMO Open ; 9(8): 103678, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39146669

ABSTRACT

BACKGROUND: Neoadjuvant immunotherapy emerges as a promising strategy for patients with localized colon cancer (CC) harboring microsatellite instability/mismatch repair deficiency (MSI/dMMR). The aim of this study is to evaluate the concordance between clinical cTN stage assessed by preoperative computed tomography (CT) scan and pTN stage of MSI/dMMR CC. PATIENTS AND METHODS: Consecutive patients diagnosed for localized MSI/dMMR CC and treated with upfront surgery between 2013 and 2022 in two French centers were eligible. Two independent radiologists, blinded to pathological findings, reviewed all preoperative CT scans and assessed cTN stage, with a third radiologist reviewing discordant cases. Radiological predictive diagnostic accuracy for pT4 and pN+ (N+ = N1 or N2) were calculated. RESULTS: One hundred and thirteen patients were included (right CCs = 79%). CT scan diagnostic performances for pT4 were sensitivity (Se) = 33.3%; specificity (Sp) = 94.0%; positive predictive value (PPV) = 66.7%; and negative predictive value (NPV) = 79.6% and for pN+ were Se = 70.3%; Sp = 59.2%; PPV = 45.6%; and NPV = 80.4%. When pT-pN were combined, 37.5% of tumors identified as cT4 and/or cN+ were actually pT1-3 and pN0, and 23.1% of the pT4 and pN+ population was not identified as such radiologically. CONCLUSION: The ability of preoperative CT scan to predict pT and pN stages is limited for localized MSI/dMMR CCs. Reassessing neoadjuvant strategies' benefit-risk balance in this population is needed.


Subject(s)
Colonic Neoplasms , Microsatellite Instability , Neoplasm Staging , Tomography, X-Ray Computed , Humans , Female , Male , Colonic Neoplasms/diagnostic imaging , Colonic Neoplasms/pathology , Tomography, X-Ray Computed/methods , Middle Aged , Aged , Retrospective Studies , Predictive Value of Tests , DNA Mismatch Repair , Neoadjuvant Therapy/methods , Preoperative Care/methods , Adult
11.
Colorectal Dis ; 15(8): e476-82, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23601092

ABSTRACT

AIM: Retrorectal tumours (RT) are uncommon, and diagnosis and management remain difficult. The aim of this study was to evaluate the results of the surgical management of RT in our institution. METHOD: Medical notes of all patients operated on for RT were reviewed. Clinical, radiological, surgical, histological data as well as morbidity and long-term results were noted. RESULTS: Forty-seven patients [34 women (72%), mean age 45.8 (range 17-85) years] underwent surgery for RT between 1997 and 2011. The commonest symptoms were pain (n = 31) and suppuration (n = 10). Thirty-nine (83%) patients underwent preoperative magnetic resonance imaging (MRI). Malignant lesions exhibited typical characteristics on MRI including heterogeneity (n = 5, 83%), solid appearance (n = 4, 67%), a low-T1 signal and high-T2 intensity (n = 5, 83%), enhancement after gadolinium injection (n = 5, 83%), irregular margin (n = 4, 67%) and extension above S3 (i = 5, 83%). A Kraske approach was used in 42 (89%) patients with resection of the coccyx in 25 (60%) and an abdominal or combined approach for the remaining five. Four patients developed complications (two haematoma, two abscess), but only one (haematoma) required reoperation. Histological examination showed 38 (80.9%) benign lesions. After a median follow-up of 71 (2-168) months, 5-year disease-free survival was 75% for malignant lesions and 93.1% for benign lesions (P = 0.023). Four (4/42; 9.5%) patients had moderate perineal pain after a Kraske approach, while no anal dysfunction was seen. CONCLUSION: Magnetic resonance imaging was the most helpful investigation for retrorectal tumours. The posterior trans-sacrococcygeal approach is the procedure of choice for complete resection for most, especially for benign and cystic lesions without extension above S2.


Subject(s)
Digestive System Surgical Procedures/methods , Rectal Neoplasms/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Female , Follow-Up Studies , Humans , Kaplan-Meier Estimate , Magnetic Resonance Imaging , Male , Middle Aged , Rectal Neoplasms/mortality , Rectal Neoplasms/pathology , Retrospective Studies , Treatment Outcome
12.
Colorectal Dis ; 15(11): e646-53, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23819886

ABSTRACT

AIM: The surgical management of obstructed left colorectal cancer (OLCC) is still a matter of debate, and current guidelines recommend Hartmann's procedure (HP). The study evaluated the results of the surgical management with a focus on a strategy of initial colostomy (IC) followed by elective resection. METHOD: All patients operated on for OLCC were reviewed. Clinical, surgical, histological, morbidity and long-term results were noted. RESULTS: From 2000-11, 83 patients (48 men) with a mean age of 70.3 ± 15.1 years underwent surgery for OLCC. Eleven (13.3%) had a subtotal colectomy owing to a laceration of the caecal wall. Eleven had a HP for tumour perforation (n = 6) or as palliation in a severely ill patient (n = 5). The remaining 61 (73.5%) patients had an IC, with the intention of performing an elective resection shortly after recovery. Postoperative complications occurred in six (9.8%) and there were two (3.3%) deaths. Fifty-nine operation survivors had a colonoscopy shortly afterwards which showed a synchronous cancer in two (3.4%). Twelve of the 59 patients had synchronous metastases. The subsequent elective resection including the colostomy site could be performed in 45 (74%) patients during the same admission at a median interval of 11 (7-17) days. The overall median length of hospital stay was 20 days and the 30-day mortality was 3/61 (5%). CONCLUSION: IC followed by surgical resection is a technically simple strategy, allowing initial abdominal exploration with a short period of having a colostomy, and permitting elective surgery with a low morbidity and full oncological lymphadenectomy.


Subject(s)
Colectomy , Colonic Neoplasms/surgery , Colostomy , Intestinal Obstruction/surgery , Aged , Aged, 80 and over , Colon, Descending/surgery , Colon, Sigmoid/surgery , Colonic Neoplasms/complications , Colonic Neoplasms/pathology , Female , Humans , Intestinal Obstruction/etiology , Kaplan-Meier Estimate , Length of Stay , Liver Neoplasms/secondary , Lung Neoplasms/secondary , Male , Middle Aged , Retrospective Studies , Time Factors
13.
Clin Genet ; 81(1): 38-46, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21476993

ABSTRACT

Two main colorectal polyposis syndromes have been described, familial adenomatous polyposis and MUTYH-associated polyposis syndromes. Some polyposis remains unexplained: 20% of adenomatous polyposis and serrated polyposis. The aim of this study was to evaluate in a cohort of patients with unexplained polyposis whether a genetic defect could be detected. Individuals presenting polyposis with more than 40 adenomas or more than 20 serrated polyps (hyperplastic, sessile serrated and mixed), without causative mutation identified, were included. Complementary explorations on APC or MUTYH were performed: search for APC mosaicism, splicing-affecting mutations, large genomic rearrangement of MUTYH. Four genes of Wnt pathway (AXIN2, PPP2R1B, WIF1, SFRP1) and two genes of transforming growth factor-ß (TGF-ß) pathway (SMAD4, BMPR1A) were screened for germline mutation. Twenty-five patients had an unexplained adenomatous polyposis (familial or sporadic). Five pathogenic mutations were found: four in APC gene (with one case of mosaicism) and one in BMPR1A gene. The exploration of APC mosaicism was better performed from adenoma DNA with high-resolution melting. The screening of the candidate genes did not find any causative mutation. Thirteen individuals had an unexplained serrated polyposis and a frameshift on SMAD4 gene was identified. All mutations were identified in familial cases of polyposis. After new pathological examination, both BMPR1A and SMAD4 cases were found to be associated with a juvenile polyposis while the polyposis was initially described as adenomatous or undetermined. In 17% (6/38) of the patients the causative mutation of the polyposis was identified. Genetic causes were heterogeneous. Sporadic polyposis patients must be considered as potential APC mosaicism. The histological classification of polyposis is strongly important in direct genetic exploration.


Subject(s)
Adenomatous Polyposis Coli/diagnosis , Adenomatous Polyposis Coli/genetics , Adenomatous Polyposis Coli/pathology , Adenomatous Polyposis Coli Protein/genetics , Adult , Aged , Bone Morphogenetic Protein Receptors, Type I/genetics , Cohort Studies , DNA Glycosylases/genetics , DNA Mutational Analysis , Frameshift Mutation , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/genetics , Gastrointestinal Diseases/pathology , Genetic Testing , Germ-Line Mutation , Humans , Intercellular Signaling Peptides and Proteins/genetics , Male , Membrane Proteins/genetics , Middle Aged , Mosaicism , Nucleic Acid Denaturation , Point Mutation , Smad4 Protein/genetics , Wnt Signaling Pathway/genetics
14.
Colorectal Dis ; 14(7): 854-60, 2012 Jul.
Article in English | MEDLINE | ID: mdl-21899713

ABSTRACT

AIM: Duodenal adenomas occur in about 90% of patients with familial adenomatous polyposis (FAP) and are the second cause of death of patients who have had a prophylactic proctocolectomy. Studies suggest that biliary acids have a role in the development of duodenal adenomas. The aim of this study was to evaluate the impact of ursodesoxycholic acid (UDCA) on duodenal adenoma formation in patients with FAP. METHOD: A randomized, double-blinded, placebo-controlled study was carried out of 71 patients (20-65 years) who already had a restorative proctocolectomy. Subjects received either 10 mg/kg of UDCA orally per day or a placebo tablet for 24 months. The Spigelman severity score was determined after duodenal axial and lateral view endoscopy at 12 and 24 months. RESULTS: At 2 years 55 patients had completed the entire period of treatment. At the end of the follow-up period, nine (25%) patients in the UDCA group and seven (20%) in the placebo group had a decrease in the Spigelman score (P = 0.6142). Patients receiving UDCA had no side-effects (0%) compared with four (14%) in the placebo group (P = 0.0392). CONCLUSION: UDCA had no effect on the development of duodenal adenomas in FAP patients (NCT: 00134758).


Subject(s)
Adenoma/prevention & control , Adenomatous Polyposis Coli/complications , Cholagogues and Choleretics/therapeutic use , Duodenal Neoplasms/prevention & control , Ursodeoxycholic Acid/therapeutic use , Adenoma/complications , Adenoma/pathology , Adult , Aged , Analysis of Variance , Chi-Square Distribution , Cholagogues and Choleretics/adverse effects , Double-Blind Method , Duodenal Neoplasms/complications , Duodenal Neoplasms/pathology , Female , Humans , Male , Middle Aged , Proctocolectomy, Restorative , Severity of Illness Index , Statistics, Nonparametric , Treatment Failure , Ursodeoxycholic Acid/adverse effects , Young Adult
15.
Clin Genet ; 80(4): 389-93, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21443744

ABSTRACT

MUTYH-associated polyposis (MAP) has been characterized as an autosomal recessive disease predisposing to a variable number of colorectal adenomas with a high risk of cancer. Numerous studies have indicated that two missense mutations (Y179C and G396D) account for about 80% of MUTYH allelic variants in Europeans. Ethnic and geographic differences in the mutation spectrum have been observed. The aim of this study was to report mutations in patients from North Africa, determine the incidence of the c.1227_1228dup mutation in our cohort of MUTYH patients and to evaluate the existence of a founder effect. Within a group of 36 families with MAP, 11 were shown to have a homozygous c.1227_1228dup mutation. These families came from Algeria (n = 5), Tunisia (n = 4), Morocco (n = 1) and Portugal (n = 1). Probands belonging to families of North African origin showed a significantly higher frequency of c.1227_1228dup (78.6% vs 4.5%, p < 0.0001). Haplotype analyses were performed using 10 microsatellite markers surrounding the MUTYH gene spanning a region of 4.4 cM. We identified a common haplotype of at least 1.3 cM in all families suggesting a founder effect for this mutation.


Subject(s)
Adenomatous Polyposis Coli/genetics , DNA Glycosylases/genetics , Mutation , Africa, Northern/ethnology , Ethnicity/genetics , Founder Effect , Genetic Association Studies , Haplotypes , Humans , Microsatellite Repeats
16.
Br J Surg ; 98(4): 480-4, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21656714

ABSTRACT

BACKGROUND: Duodenal adenomas develop in patients with familial adenomatous polyposis, incurring a risk of carcinoma. When this risk is high, surgery is indicated. The choice of surgical treatment can be difficult as evidence-based data are lacking. METHODS: This is a systematic review of the literature on the non-medical management of duodenal lesions arising in the setting of familial adenomatous polyposis. Studies were identified through searching MEDLINE. Studies published between January 1965 and October 2009 were included. Data regarding number of subjects, complications, length of follow-up, recurrence rate and outcome were extracted. RESULTS: Transduodenal resection does not differ from an endoscopic approach in terms of recurrence. Ampullectomy has limited application as only papillary lesions are amenable to treatment in this manner. Duodenectomy with pancreas preservation is preferable to pancreaticoduodenectomy unless malignancy is present, or cannot be excluded. CONCLUSION: Surgery should be reserved for advanced or malignant polyps.


Subject(s)
Adenoma/surgery , Duodenal Neoplasms/surgery , Duodenoscopy/methods , Duodenum/surgery , Adenomatous Polyposis Coli/surgery , Humans , Neoplasm Recurrence, Local/etiology , Pancreatectomy/methods , Postoperative Complications/etiology , Randomized Controlled Trials as Topic , Risk Factors , Treatment Outcome
17.
Colorectal Dis ; 13(7): 774-8, 2011 Jul.
Article in English | MEDLINE | ID: mdl-20402742

ABSTRACT

AIM: Abdominoperineal resection (APR) is the only curative treatment for recurrent or persisting squamous cell carcinoma of the anus after radiochemotherapy. A vertical rectus abdominis myocutaneous (VRAM) flap reduces perineal morbidity. The sexual life (SL) of women after APR is unknown. Aims of this study were to evaluate SF of women after APR. METHOD: 47 women alive after APR performed between 1996 and 2007 were included. SL was evaluated using the female sexual function index (FSFI) score. RESULTS: 29 (62%) women answered the questionnaire: 15 (52%) had a VRAM and 16 (55%) a colpectomy. Among the 21 patients with SL before surgery, 16 (76%) still had intercourse with a mean FSFI score of 19.5 ± 10.9 [4.8-36]. Main difficulties reported were troubles of lubrication, orgasm, and dyspareunia. Confection of a VRAM did not influence the recovery of SL (P = 0.717). Colpectomy reduced return of SL (P = 0.026). CONCLUSION: Among women who had SL before APR, 76% still had sexual intercourse after. Colpectomy seems to reduce SL.


Subject(s)
Anus Neoplasms/surgery , Carcinoma, Squamous Cell/surgery , Gynecologic Surgical Procedures/adverse effects , Sexual Dysfunctions, Psychological/etiology , Surgical Flaps/adverse effects , Vagina/surgery , Adult , Aged , Aged, 80 and over , Anus Neoplasms/radiotherapy , Body Image , Carcinoma, Squamous Cell/radiotherapy , Coitus/physiology , Coitus/psychology , Dyspareunia/etiology , Female , Humans , Middle Aged , Neoadjuvant Therapy , Orgasm , Perineum/surgery , Rectus Abdominis/surgery , Sensation , Sexual Dysfunctions, Psychological/physiopathology , Sexuality/physiology , Sexuality/psychology , Vagina/physiopathology
18.
Colorectal Dis ; 13(6): e112-5, 2011 Jun.
Article in English | MEDLINE | ID: mdl-21564462

ABSTRACT

AIM: Many surgical approaches have been described for the treatment of low rectovaginal fistulae (LRVF); however, all are associated with a high recurrence rate and a poor function. The Martius flap technique was first described in 1928 and has since been modified for the treatment of LRVF. The aims of this study were to evaluate the short- and long-term results of the Martius flap procedure. METHOD: Twenty patients who underwent the Martius flap procedure between 2000 and 2010 were retrospectively included. Operative results and morbidity were evaluated. Quality of life (SF-12 score), quality of sexual life [Female Sexual Function Index (FSFI) score] and anal continence (Wexner score) were determined. RESULTS: Crohn's disease was the predominant aetiology (n = 8, 40%). The Martius flap was mostly harvested from the left side (n = 14, 66.7%). The morbidity rate was 15% (n = 3), and the mean hospital stay was 7.7 ± 3.7 days. At a mean follow up of 35 months, the success rate was 65%. Seven patients still had an LRVF: in patients with Crohn's disease the success rate was 50% (4/8). Fifteen patients (75%) answered the three questionnaires. Quality of life score was in the normal range: physical component summary score (PCS: 46.7 ± 9) and mental component summary score (MCS: 44.7 ± 11.3). The median (range) FSFI score was 5 (2-31.7). Eight patients (53%) deemed cured suffered no incontinence. The Wexner score was significantly higher in the presence of a persisting LRVF (2.6 ± 5.5 vs 13.4 ± 3.78) (P = 0.0018). Use of a right-sided flap was associated with a higher success rate (P = 0.0442). CONCLUSION: The Martius flap procedure for LRVF, had a success rate of about 60% and a low morbidity.


Subject(s)
Rectovaginal Fistula/surgery , Surgical Flaps , Adult , Crohn Disease/complications , Female , Humans , Middle Aged , Quality of Life , Rectovaginal Fistula/complications , Rectovaginal Fistula/pathology , Recurrence , Retrospective Studies , Time Factors , Treatment Outcome
19.
Colorectal Dis ; 13(8): e238-42, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21689331

ABSTRACT

AIM: Faecal incontinence is a significant source of distress, and a permanent stoma is frequently offered to these patients. The antegrade colonic enema (ACE) procedure is an alternative approach to treat faecal incontinence. The long-term outcome remains unknown in adults with faecal incontinence. The aim of this study was to evaluate the long-term results of the ACE procedure for incontinence in adults and its impact upon quality of life. METHOD: All patients who underwent an ACE procedure between 1999 and 2009 were included. Clinical and demographic data and postoperative course were obtained from a review of medical records and databases. Each patient underwent a telephone interview. Quality of life was assessed using the GIQLI and SF36 scores, and faecal incontinence was evaluated using the Wexner score. RESULTS: Seventy-five patients (54 females; 72%) were included. An ileal neoappendicostomy was performed in 68 patients (90%). The mean hospital stay was 9 days (range 6-24 days). Early complications occurred in four patients and late surgical complications (after 3 months) were observed in 12 (16%) patients. At a median follow up of 48 months, 64 (91%) were still performing enemas, and treatment was judged to be successful in 55 (86%) of 64 patients. The Wexner score was 3.4 ± 2.4, showing a significant reduction when compared with the preoperative value (P < 0.0001). Quality of life scores were in the range of a control population. CONCLUSION: The ACE procedure is an effective long-term strategy in the treatment of faecal incontinence, with low and acceptable morbidity, and should be preferred before definitive colostomy.


Subject(s)
Enema/methods , Fecal Incontinence/therapy , Quality of Life , Adolescent , Adult , Aged , Aged, 80 and over , Appendix/surgery , Female , Humans , Ileostomy/methods , Male , Middle Aged , Retrospective Studies , Surgical Stomas , Surveys and Questionnaires , Young Adult
20.
Gut ; 59(7): 975-86, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20581245

ABSTRACT

Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.


Subject(s)
Peutz-Jeghers Syndrome/diagnosis , Adult , Aged , Breast Neoplasms/diagnosis , Child , Child, Preschool , Endoscopy, Gastrointestinal , Evidence-Based Medicine/methods , Female , Gastrointestinal Neoplasms/diagnosis , Genital Neoplasms, Female/diagnosis , Genotype , Humans , Long-Term Care/methods , Male , Mass Screening/methods , Middle Aged , Peutz-Jeghers Syndrome/genetics , Peutz-Jeghers Syndrome/therapy , Phenotype , Population Surveillance/methods , Young Adult
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