Value of upper <scp>gastrointestinal</scp> endoscopy for gastric cancer surveillance in patients with Lynch syndrome

Ladigan‐Badura, Swetlana; Vangala, Deepak B.; Engel, Christoph; Bucksch, Karolin; Hueneburg, Robert; Perne, Claudia; Nattermann, Jacob; Steinke‐Lange, Verena; Rahner, Nils; Schackert, Hans K.; Weitz, Jürgen; Kloor, Matthias; Kuhlkamp, Judith; Nguyen, Huu Phuc; Möeslein, Gabriela; Strassburg, Christian P.; Morak, Monika; Holinski‐Feder, Elke; Buettner, Reinhard; Aretz, Stefan; Loeffler, Markus; Schmiegel, Wolff; Pox, Christian; Schulmann, Karsten

doi:10.1002/ijc.33294

Cited by 31 publications

(45 citation statements)

References 42 publications

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“…The total number of EGDs in this work presents an update to our recently published data on the surveillance of gastric cancer. 22 Assuming, that our early stage detection rate of 77% by EGD was true for the entire cohort of 47 patients among 1149 patients undergoing surveillance EGDs, 60 LS patients would have to be screened in order to detect one early-stage DC. Adding this to the data from our previously published gastric cancer cohort, this number would be around 25 (Table S7).…”

Section: Follow-up Datamentioning

confidence: 99%

“…The numbers for EGDs are slightly higher than previously reported by us. 22 The reason for this is the addition of patients formerly characterized as VUS to now pathogenic variants and some updated information in follow-up. In the DC "surveillance" group, patients were followed for a total of 139 person-years and received 147 colonoscopies (11.3/patient) and 105 EGDs (8.1/patient), respectively (Table S6).…”

Section: Follow-up Datamentioning

confidence: 99%

“…Thus, the influx of data in a registry as ours is highly dependent on the willingness of patients and practicing physicians to regularly submit surveillance reports as has been discussed previously. 22 In our registry endoscopic (colonoscopic and EGD) followup information is available for two-thirds of patients. This number was considerably higher in the "surveillance" group and approximately the same range for the "nonsurveillance" group and other SBC patients as for the entire study cohort.…”

Section: Follow-up Datamentioning

confidence: 99%

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Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

Vangala

Ladigan‐Badura

Engel

et al. 2021

Intl Journal of Cancer

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Small bowel cancer (SBC) is the malignancy with the highest standardized incidence ratio in Lynch syndrome (LS) patients. Of all SBCs, about 50% are duodenal cancers (DCs), therefore being accessible by esophago-gastro-duodenoscopy (EGD) for surveillance. We asked whether early detection of DC is possible for LS patients undergoing surveillance by EGD and if surveillance should be limited to specific subgroups.Data for LS patients with DC were retrieved from the registry of the German Consortium for Familial Intestinal Cancer. Patients undergoing active surveillance by EGDs (surveillance group) were compared to those who did not (nonsurveillance group) regarding tumor stage at diagnosis. Union for International Cancer Control stages I-IIA were defined as early stage disease and IIB-IV as advanced stage disease. Statistical analysis was performed using Fisher's exact test. Among 2015 patients with pathogenic variants in any mismatch-repair-gene, 47 patients with 49 DCs were identified. In 10% of cases, patients were under 35 years at diagnosis; family and personal tumor history did not correlate with DC diagnosis. Pathogenic germline variants in MSH6, PMS2 or EPCAM were present in 10% of patients. Statistical analysis could be performed on 13 DC patients in the surveillance group

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Section: Follow-up Datamentioning

confidence: 99%

Section: Follow-up Datamentioning

confidence: 99%

Section: Follow-up Datamentioning

confidence: 99%

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Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

Vangala

Ladigan‐Badura

Engel

et al. 2021

Intl Journal of Cancer

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“…The risk of developing these cancers in individuals with LS is very low. For those with gastric-duodenal cancers, especially individuals with a family history of gastric cancer or those of Asian ancestry [ 66 , 67 ], upper gastrointestinal endoscopy is recommended every 3–5 years beginning at the age of 30–35. The presence of Helicobacter pylori infection should be evaluated from approximately age 25 so that patients could undergo treatment as needed [ 68 , 69 ].…”

Section: Surveillancementioning

confidence: 99%

Recent advances in Lynch syndrome

Liu

2021

Exp Hematol Oncol

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Lynch syndrome is one of the most common hereditary cancer syndromes and is characterized by the development of many cancers, such as colorectal cancer (CRC), endometrial cancer, ovarian cancer, stomach cancer and many other cancers. Lynch syndrome is caused by pathogenic germline variants in one of four DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) or by an EPCAM deletion. The MLH1 variant is correlated with the highest risk of CRC, while the MSH2 variant is correlated with the highest risk of other cancers. CRC is the most common cancer type that develops in individuals with Lynch syndrome, followed by endometrial cancer. Recent advances have been made to help us further understand the molecular pathogenesis of this disease and help improve diagnostic testing efficiency and surveillance strategies. Moreover, recent advances in immunotherapy provided by clinical trials also provide clinicians with more chances to better treat Lynch syndrome. This study aims to review many advances in the molecular genetics, clinical features, diagnosis, surveillance and treatment of Lynch syndrome.

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“…There is less agreement about the utility of surveillance for extra-colonic cancers in LS. Although recent reports show upper gastrointestinal cancer surveillance could detect gastric and duodenal cancers in LS[ 9 , 10 ], differences remain in recommended upper gastrointestinal cancer surveillance[ 5 , 11 ]. There is a paucity of evidence supporting efficacy of other types of extra-colonic cancer surveillance in LS, including small intestinal cancer (SIC) and urinary tract cancer (UTC) surveillance, as well as a lack of data addressing provider recommendation and patient uptake of SIC and UTC surveillance.…”

Section: Introductionmentioning

confidence: 99%

Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome

DeJesse¹,

Vajravelu²,

Dudzik³

et al. 2021

WJCO

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BACKGROUND Lynch syndrome (LS) is a hereditary cancer predisposition syndrome associated with increased risk of multiple cancers. While colorectal cancer surveillance decreases mortality in LS and is recommended by guidelines, there is lack of evidence for the efficacy of surveillance for extra-colonic cancers associated with LS, including small intestinal cancer (SIC) and urinary tract cancer (UTC). Given the limited evidence, guidelines do not consistently recommend surveillance for SIC and UTC, and it remains unclear how often individuals will choose to undergo and follow through with extra-colonic surveillance recommendations. AIM To study factors associated with SIC and UTC surveillance uptake and outcomes in LS. METHODS This is an IRB-approved retrospective analysis of individuals with LS seen at a tertiary care referral center. Included individuals had a pathogenic or likely pathogenic variant in MLH1 , MSH2 , MSH6 , PMS2 , or EPCAM , or were a confirmed obligate carrier, and had at least one documented visit to our center. Information regarding SIC and UTC surveillance was captured for each individual, and detailed personal and family history was obtained for individuals who had an initial LS management visit in our center’s dedicated high-risk LS clinic between January 1, 2017 and October 29, 2020. During these initial management visits, all patients had in-depth discussions of SIC and UTC surveillance with 1 of 3 providers experienced in LS management to promote informed decision-making about whether to pursue SIC and/or UTC surveillance. Statistical analysis using Pearson’s chi-squared test and Wilcoxon rank-sum test was completed to understand the factors associated with pursuit and completion of SIC and UTC surveillance, and a P value below 0.05 was deemed statistically significant. RESULTS Of 317 individuals with LS, 86 (27%) underwent a total of 105 SIC surveillance examinations, with 5 leading to additional work-up and no SICs diagnosed. Additionally, 99 (31%) patients underwent a total of 303 UTC surveillance examinations, with 19 requiring further evaluation and 1 UTC identified. Of 155 individuals who had an initial LS management visit between January 1, 2017 and October 29, 2020, 63 (41%) chose to undergo SIC surveillance and 58 (37%) chose to undergo UTC surveillance. However, only 26 (41%) and 32 (55%) of those who initially chose to undergo SIC or UTC surveillance, respectively, successfully completed their surveillance examinations. Individuals with a pathogenic variant in MSH2 or EPCAM were more likely to initially choose to undergo SIC surveillance ( P = 0.034), and older individuals were more likely to complete SIC surveillance ( P...

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Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome

Cited by 31 publications

References 42 publications

Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

Recent advances in Lynch syndrome

Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome

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