Malignant potential of colorectal neoplasms in Lynch syndrome: an analysis of 325 lesions endoscopically treated at a single institute

Author(s):  
Hiroyuki Hatamori ◽  
Akiko Chino ◽  
Masami Arai ◽  
Daisuke Ide ◽  
Shoichi Saito ◽  
...  

Abstract Background Patients with Lynch syndrome are at an increased risk of developing colorectal cancer, and the adenoma-carcinoma sequence is accelerated in these patients. However, the clinicopathological characteristics of colorectal neoplasms in Lynch syndrome patients are not well-known. Methods A total of 325 consecutive colorectal neoplasms were endoscopically removed from 68 patients with Lynch syndrome between June 2005 and May 2018 and retrospectively reviewed. Results Of the 325 lesions, 94 (29%), 220 (68%) and 11 (3%) were from patients with MLH1, MSH2 and MSH6 mutations, respectively. The median lesion size was 5 mm (range 2–40 mm), with 229 (71%) lesions having a non-polypoid morphology. The frequencies of advanced neoplasms, including high-grade adenomas, intramucosal carcinomas and submucosal invasive carcinomas were 14, 34, 97 and 93% for lesions with diameters of <5, ≥5 and <10, ≥10 and <20, and ≥20 mm, respectively. The frequencies of advanced neoplasms in the proximal colon, distal colon and rectum did not significantly differ (36, 35 and 41%, respectively). Conclusions Our results suggest that the malignant transformation interval from low-grade adenomas to advanced neoplasms is similar in all parts of the colon. Furthermore, since one-third of neoplastic lesions with diameters of ≥5 and <10 mm and most of those ≥10 mm were advanced neoplasms, we recommend that in Lynch syndrome patients, careful colonoscopic surveillance should be performed throughout the colon, and all neoplastic lesions, regardless of the size, should be subjected to detailed endoscopic examination, complete resection and detailed pathological examination.

2016 ◽  
Vol 43 (3) ◽  
pp. 178-184
Author(s):  
ARTUR ADOLFO PARADA ◽  
CARMEN AUSTRALIA PAREDE MARCONDES RIBAS ◽  
FILADELFIO EUCLYDES VENCO ◽  
JOSÉ CELSO ARDENGH ◽  
MARIANA AMARAL REIS ◽  
...  

ABSTRACT Objective: to compare endoscopic and histopathologic features of superficial, elevated lesions with one or more centimeters in diameter, diagnosed by videocolonoscopy on the distal and proximal colon, and subjected to mucosal resection. Methods: we conducted a retrospective, cross-sectional, observational study involving 8,075 videocolonoscopies. From this total, we evaluated 166 mucosectomies in 145 patients with superficial, elevated lesions with a diameter equal to or greater than 1cm. Results: the lesion prevalence was lower in G1 than in G2 (34.9% vs. 65%). The mean age, gender distribution and size (1.9cm in G1 versus 2.0cm in G2, p=0.921) were similar. There was no difference of mucosal surfaces in relation to the location (p=0.575). Considering Intraepithelial neoplasias, both the low grade, high grade (including carcinomas) and hyperplasic ones showedd no difference (p=0.527), nor did the neoplastic lesions when divided into serrated and non-serrated (p=0.124). Excluding 13 hyperplastic lesions and two carcinomas, 124 (82.1%) were non-serrated and 27 (17.9%), serrated. Conclusion: were found no significant differences between endoscopic and histopathological aspects of superficial, elevated lesions of 1cm or more in diameter in distal colon compared with the proximal, when resected by mucosectomy. Although not significant, there was a tendency of association between the location of the lesion and the presence of serrated features.


2003 ◽  
Vol 17 (2) ◽  
pp. 119-121 ◽  
Author(s):  
Bret A Lashner

Patients with ulcerative colitis (UC) are at increased risk for colorectal cancer (CRC), especially those with longstanding disease, pancolitis or primary sclerosing cholangitis. The incidence of colitis- associated cancer is increasing, and the mortality rates from CRC are higher in UC patients than in the general population. Case control studies have demonstrated that surveillance colonoscopy reduces the risk of dying from CRC. A well conducted decision analysis found that surveillance colonoscopy decreases cancer-related mortality and increases life expectancy. The results with surveillance programs were almost as good as with prophylactic colectomy. A subsequent cost effectiveness analysis using the same model found that, compared with a policy of no surveillance, colonoscopic surveillance was more effective at preventing death from CRC and was less costly. The best strategy appears to be to perform colonoscopies every three years. The analysis also showed that colectomy should be recommended in patients with low-grade dysplasia. Patients at very high risk for CRC should undergo yearly colonoscopy, and patients who are concerned about the limitations of this technique should be offered prophylactic colectomy.


2013 ◽  
Vol 305 (5) ◽  
pp. G357-G363 ◽  
Author(s):  
Jessica M. Holmén Larsson ◽  
Kristina A. Thomsson ◽  
Ana M. Rodríguez-Piñeiro ◽  
Hasse Karlsson ◽  
Gunnar C. Hansson

The mouse intestinal mucus is mainly made up by the gel-forming Muc2 mucin and the stomach surface mucus Muc5ac, both extensively O-glycosylated. The oligosaccharide diversity provides a vast library of potential recognition sites for both commensal and pathogenic organisms. The mucin glycans are thus likely very important for the selection and maintenance of a stable intestinal flora. Here we have explored the O-glycan patterns of the mouse gastrointestinal tract mucins. The mucins from the mucus of the distal and proximal colon, ileum, jejunum, duodenum, and stomach of conventionally raised wild-type (C57BL/6) mice were separated by composite gel electrophoresis. The O-linked glycans were released by reductive elimination and structurally characterized by liquid chromatography-mass spectrometry. The mucins glycans were mostly core 2 type [Galβ1–3(GlcNAcβ1–6)GalNAcol], but also core 1 (Galβ1–3GalNAcol). In the stomach about half of the Muc5ac mucin O-glycans were neutral and many monosulfated, but with a low grade of sialylation and fucosylation. Mouse ileum, jejunum, and duodenum had similar glycan patterns dominated by sialylated and sulfated core 2 glycans, but few fucosylated. Colon was on the other hand dominated by highly charged fucosylated glycans. The distal colon is different from the proximal colon because different biosynthetic pathways are utilized, although sialylated and sulfated glycans were highly abundant in both parts. The sulfation was higher in the distal colon, whereas sialic acid was more common in the proximal colon. Many fucosylated glycans were found in both the proximal and distal colon. Thus the mucin O-glycans vary along the mouse gastrointestinal tract.


2012 ◽  
Vol 30 (4_suppl) ◽  
pp. 404-404
Author(s):  
Yunxia Lu ◽  
Rickard Ljung ◽  
Mats Lindblad ◽  
Jesper Lagergren

404 Background: Epidemiological studies imply an association between sex hormonal related factors and the risk of colorectal cancer. Methods: A prostate cancer cohort was initiated from the Swedish Cancer Register among patients diagnosed during 1961-2008. The prostate cancer patients were followed up until a diagnosis of colorectal adenocarcinoma, death, emigration or end of study (December, 31, 2008). The cohort was stratified into a group as “estrogen exposed” who were diagnosed with prostate cancer before 1980, and a group as “estrogen less exposed” who were diagnosed after 1980. The reason for this grouping was estrogen therapy was the predominant treatment strategy in Sweden before 1980 while other treatment became more common after 1980. Standardized incidence ratios (SIRs) and 95% confidence interval (CI) were estimated as the measure of relative risk compared to the general population of the corresponding age and calendar year. SIRs were estimated for total colorectal cancer and for cancer of the proximal colon, distal colon, and rectum separately. Results: Among a total of 190,485 of prostate cancer patients contributing 708,019 person-years at risk, we identified 1493 colorectal adenocarcinoma. For those diagnosed with prostate cancer before 1980 (estrogen exposed group),almost all age groups showed a decreased risk of colorectal cancer, except for cancer of the distal colon, compared to the general population. Increased risk of colorectal cancer was instead found in almost all age groups for those diagnosed after 1980 (estrogen less exposed group). SIRs of adenocarcinoma in the proximal colon and distal colon showed different patterns. After 1980, the SIR of adenocarcinoma in the distal colon among patients followed up for >10 years was 1.29, (95% CI 1.02-1.60). Conclusions: This study indicates that exposure to estrogens protect against colorectal cancer, while treatment after 1980 displayed a potential increased risk of colorectal adenocarcinoma, especially in the distal colon.


2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S074-S075
Author(s):  
A Cremer ◽  
P Demetter ◽  
M De Vos ◽  
J F Rahier ◽  
F Baert ◽  
...  

Abstract Background Patients with inflammatory bowel diseases (IBD) are at increased risk of dysplasia and colitis-associated cancer (CAC). The presentation of (pre)neoplastic lesions (low-grade dysplasia (LGD), high-grade dysplasia (HGD) or colorectal cancer (CRC) is reported to vary depending if the lesions are located inside disease area (IDA) or outside diseased area (ODA). The primary aim was to analyse the characteristics and prognostic of IDA compared with ODA neoplastic lesions in a large cohort of IBD patients. Methods We performed a multicentre retrospective pathological data collection from 7 tertiary referral regional or academic IBD centres in Belgium. Clinical, endoscopic and pathological data were retrieved through retrospective electronic chart review. From the IBD pathology databases, 1183 colorectal lesions were identified in 541 IBD patients: 415 developed dysplasia (77%) and 126 CRC (23%) during their follow-up. Biopsies and surgical specimen were centrally reviewed by an expert IBD pathologist to confirm the diagnosis of dysplasia and/or CRC. Results Demographic and clinical variables of the study population are summarised in Table 1. More patients with IDA lesions had HGD (9%) or CAC (27%) during their follow-up compared with the group of patients with ODA lesions (3% of HGD and 11% of CRC) (p < 0,0001). Mortality was higher in patients with IDA than in those with ODA lesions (p < 0.05). When comparing IBD patients with IDA lesions and CAC (=111) to those with ODA lesions and sporadic CRC (n = 15), median age at IBD diagnosis was lower (29 (IQR:22–49) vs. 41(IQR:28–54) years; p = 0.0001). Characteristics of the 1183 neoplastic lesions are summarised in Table 2. IDA lesions were more frequently non-visible, non-polypoid and ≥ 1 cm than ODA lesions (p < 0.0001). ODA sporadic CRC was more frequently located in the right colon compared with IDA CAC (5/16 (31%) vs. 21/133 (16%), p < 0.01). Conclusion Neoplastic lesions outside the diseased area were more likely to be visible, polypoid, < 1cm, in the right colon and diagnosed at endoscopy than inside disease area lesions. A lower prevalence of HGD and Cancer were reported with neoplastic lesions outside the diseased area.


2015 ◽  
Vol 139 (3) ◽  
pp. 388-393 ◽  
Author(s):  
Juliana F. Yang ◽  
Shou-Jiang Tang ◽  
Richard H. Lash ◽  
Ruonan Wu ◽  
Qinghua Yang

Context Sessile serrated adenomas/polyps (SSA/Ps) have been increasingly studied during the last 10 years. However, their detailed anatomic distribution pattern has not been studied, especially given newer (broader) criteria for the diagnosis. Objectives To characterize the anatomic distribution of SSA/P with and without cytologic dysplasia and to assess the demographics of these patients in a nationwide database. Design We retrospectively analyzed the database of Miraca Life Sciences Research Institute for a 1-year period. Patients with a diagnosis of SSA/P, SSA/P with low-grade cytologic dysplasia (SSA/P-LGD), SSA/P with high-grade cytologic dysplasia (SSA/P-HGD), or SSA/P with adenocarcinoma (SSA/P-ACA) were retrieved, and patients' age, sex, and specific anatomic location were analyzed. Results A total of 11 201 patients were identified, of which 10 646 (95.0%) had SSA/P, 514 (4.6%) had SSA/P-LGD, 39 (0.35%) had SSA/P-HGD, and 2 (0.018%) had SSA/P-ACA. All SSA/Ps and more advanced lesions were significantly more common in the proximal colon—SSA/P (61.2%), SSA/P-LGD (61.2%), SSA/P-HGD (80%), and SSA/P-ACA (100%)—than in either the transverse (18.8%, 17.8%, 10.0%, and 0%, respectively) or the distal (19.9%, 21.0%, 10.0%, and 0%, respectively) colon, P < .001. Sessile serrated adenoma/polyp with cytologic dysplasia was most commonly found in the ascending colon (LGD, 31.6%) and cecum (HGD, 37.5%). Advanced SSA/Ps were disproportionally more common among older women. Conclusions Sessile serrated adenomas/polyps with and without cytologic dysplasia and carcinoma are predominantly found in the cecum and ascending colon, whereas there is low prevalence in both the transverse and distal colon. Confirmation of previously published data regarding demographics of advanced lesions among a different cohort and including newer (broader) criteria suggests these criteria are valid.


2020 ◽  
Vol 38 (4_suppl) ◽  
pp. 64-64
Author(s):  
Oliver Peacock ◽  
Yun Yang ◽  
Selvi Thirumurthi ◽  
Sa Thi Nguyen Nguyen ◽  
Phillip Lum ◽  
...  

64 Background: Patients with sporadic young-onset colorectal cancer (CRC) are postulated to have a more biologically active colorectum prone to malignant transformation earlier in life. It is unknown whether there is elevated risk for metachronous colorectal pathology after the index cancer. We aimed to define this risk, to inform their post-resection endoscopic surveillance. Methods: Consecutive CRC patients (aged 18-50, n = 728) were prospectively followed after surgical resection between 2009 and 2017. Patients presenting with hereditary CRC, recurrent disease, or without endoscopy follow-up were excluded. All endoscopy records were subjected to natural language processing and further reviewed. Metachronous colorectal pathology of interest included: high-risk adenoma (≥1cm in size, > 3 in number, or tubulovillious/high-grade dysplasia histology), second CRC, and endoscopically detectable local recurrence. Results: During a 48-month (median) follow-up, 457 patients underwent 1,192 person-years of colonoscopic follow-up. The median age at CRC diagnosis was 44 years. Disease arose from the proximal colon in 9.4%, distal colon in 23.0% and rectum in 67.6%, and was stages I/II in 191 (41.8%), III in 185 (40.4%), and IV in 81 (17.7%). The majority (95.8%) underwent segmental resection, while the remainder had extended resections for synchronous pathology not amendable to preoperative endoscopic clearance. The overall incidence of metachronous pathology was 32 per 1000 person-years: 31 patients developed high-risk adenomas (6.8%), 1 had a second CRC (0.2%), and 7 had luminal recurrences (1.5%). The median time to metachronous pathology was 13.9 (IQR: 11.8-33.1) months, with 21 (53.8%) detected between 12 and 48 months post-resection. Conclusions: For young-onset CRC survivors, the incidence of metachronous colorectal pathology was 32 per 1000 person-years of follow-up. Given the time pattern of detection, adding an interval colonoscopy between the current recommended post-resection surveillance at 12 and 48 months may be beneficial. [Table: see text]


2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii377-iii377
Author(s):  
Rieko Taniguchi ◽  
Atsushi Natsume ◽  
Nozomu Kawashima ◽  
Shinji Tanioka ◽  
Hideki Muramatsu ◽  
...  

Abstract INTRODUCTION Infantile hemispheric gliomas with ROS1 fusion genes have been reported to have a relatively poor prognosis. Treatment using a ROS1 inhibitor is expected to generate less toxicity and effective for brain tumors with ROS1 fusion genes. CASE PRESENTATION: A one-month-old female presented with a seizure, and a large hypervascular mass in the right hemisphere was found on MRI. The tumor was not biopsied over concerns of an increased risk for bleeding. The mass was clinically diagnosed as an atypical teratoid rhabdoid tumor. She received neoadjuvant chemotherapy using the modified EU-RHAB protocol. The tumor gradually decreased to 70% of its original size with a reduction of vascularity. A near-total resection (> 95%) was performed at eight months of age. Pathological examination revealed the unusual histology with immunostaining positive for INI-1, GFAP, synaptophysin, neurofilament, and slightly positive for NeuN. MIB-1 labeling index was 6%. The pathological diagnosis was a glioneuronal tumor with desmoplastic infantile ganglioglioma-like features, suggestive of low grade. She received adjuvant chemotherapy with carboplatin and vincristine, which is the standard treatment for low-grade gliomas, and achieved a partial response. The GOPC-ROS1 fusion gene was detected in the tumor by FoundationOneⓇ CDx. CONCLUSION Chemotherapy may effectively reduce the size of an infant’s brain tumor which is initially considered to be inoperable. A gene profile should be performed as soon as possible in order to direct appropriate management.


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