Equivalent Helicobacter pylori infection rates in Lynch syndrome mutation carriers with and without a first-degree relative with gastric cancer

Soer, Eline C.; Leicher, Laura W.; Langers, Alexandra M. J.; Meeberg, Paul C. van de; Wouden, Egbert-Jan van der; Koornstra, Jan J.; Bigirwamungu-Bargeman, Marloes; Vasen, Hans F. A.; Cappel, Wouter H. de Vos tot Nederveen

doi:10.1007/s00384-016-2524-7

Cited by 22 publications

(22 citation statements)

References 18 publications

(20 reference statements)

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“…In our series, HP infection was observed in all intestinal-type GCs and the diagnosis of cancer was made by upper GI endoscopy in a work up for symptoms. HP infection has been reported in about 20% of GCs in LS [ 2 , 6 , 21 ]. No differences in the frequency of HP infection were observed between LS carriers and the general population [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis

Fornasarig

Magris

et al. 2018

IJMS

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Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of different tumors, including gastric cancers (GCs). Since the clinical characteristics of GCs associated with LS and FAP are not well known, we investigated clinical and molecular features of GCs occurring in patients with LS and FAP attending our Institution. The Hereditary Tumor Registry was established in 1994 at the Department of Oncologic Gastroenterology, CRO Aviano National Cancer Institute, Italy. It includes 139 patients with LS and 86 patients with FAP. Patients were recruited locally for prospective surveillance. Out of 139 LS patients, 4 developed GC—3 in the presence of helicobacter pylori infection and 1 on the background of autoimmune diseases. All GCs displayed a high microsatellite instability (MSI-H) and loss of related mismatch repair (MMR) protein. One of the FAP patients developed a flat adenoma, displaying low-grade dysplasia at the gastric body, and another poorly differentiated adenocarcinoma with signet ring cells like Krukenberg without HP infection. LS carriers displayed a risk of GC. The recognition of HP infection and autoimmune diseases would indicate those at higher risk for an endoscopic surveillance. Regarding FAP, the data suggested the need of suitable endoscopic surveillance in long survivals with diffuse fundic gland polyps.

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Section: Discussionmentioning

confidence: 99%

Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis

Fornasarig

Magris

et al. 2018

IJMS

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“…This value resembles the results of a Dutch retrospective observational cohort study, considering the prevalence of H. pylori in LS patients. In their study, Soer et al (13) reported that 46% of LS patients from 5 Dutch hospitals had undergone screening for H. pylori (mainly by serology), and of those screened, 20% were found to be infected. However, this proportion was not higher in individuals with a family history of GC (13).…”

Section: Discussionmentioning

confidence: 99%

“…In their study, Soer et al (13) reported that 46% of LS patients from 5 Dutch hospitals had undergone screening for H. pylori (mainly by serology), and of those screened, 20% were found to be infected. However, this proportion was not higher in individuals with a family history of GC (13). In their study, Renkonen-Sinisalo et al (11) also found similar occurrence rates of H. pylori infection among mutation-positive and mutation-negative family members.…”

Section: Discussionmentioning

confidence: 99%

“…Thus, it remains unclear whether screening patients, even non-invasively, for H. pylori infection is a worthwhile endeavor in LS, despite being recommended by the Mallorca group (9). While we do not advocate universal non-invasive screening of H. pylori in LS patients, if one does chose to test individuals non-invasively, we recommend a 13 C or 14 C urea breath test (UBT) over serology due to sensitivity of 96% and specificity of 93% for UBT versus 58%-100% and 59%-97%, respectively, for serology (14 It is reasonable to expect that the yield of screening gastroscopies would be low in LS, where the lifetime GC incidence is estimated at 1%-8% (4-6), based on the fact that gastroscopy is a poor screening tool in other hereditary syndromes, such as Hereditary Diffuse Gastric Cancer (HDGC), which confer a much higher GC risk. In HDGC, a syndrome caused by truncating mutations in the E-cadherin (CDH1) gene, the cumulative risk of GC by the age of 80 years is 67% for men and 83% for women (15).…”

Section: Discussionmentioning

confidence: 99%

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Low yield of gastroscopy in patients with Lynch syndrome

Galiatsatos¹,

Labos²,

Jeanjean³

et al. 2017

Turk J Gastroenterol

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Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, accounting for 1%-4% of all CRCs and 10% of CRCs under the age of 50 years (1). It is an autosomal dominant condition caused by germline mutations in one of four DNA mismatchrepair (MMR) genes, namely MLH1, MSH2, MSH6, and PMS2, as well as mutations in the EPCAM gene, which inactivates MSH2 via promoter hypermethylation. Besides a lifetime risk of CRC averaging 70%-80%, there is also an increased risk of extracolonic tumors, including carcinoma of the endometrium (40%-60% lifetime risk), ovary, stomach, small bowel, pancreas, hepatobiliary tree, brain, and urinary tract (2). The Amsterdam II criteria are a clinical tool used to help identify LS mutation carriers (Figure 1).The utility of routine surveillance gastroscopy in LS has been a topic of debate for several years. While gastric cancer (GC) was a predominant feature of LS a century ago, it is much less common now, indicating the significant decline in GC incidence in the Western world over the last few decades (3). Until recently, screening gastroscopies were periodically performed for LS patients followed in the Genetics clinic or Hereditary Gastrointestinal Cancer Clinic (GENGI) of our institution. 2017; 28: 434-8 ABSTRACT Background/Aims: Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in mismatch-repair genes. Besides a lifetime risk of colorectal cancer averaging 70%-80%, there is an increased risk of extracolonic tumors including gastric cancer. The utility of screening gastroscopy in Lynch syndrome has long been debated. This study aimed to determine the proportion of abnormal gastroscopies among patients screened, including the incidence of gastric cancer and prevalence of precursor lesions. Materials and Methods: Charts of patients with mutation-proven Lynch syndrome between January 1, 2004, and December 31, 2014, from the Genetics clinic and Hereditary Gastrointestinal Cancer Clinic of our institution were retrospectively reviewed. Turk J GastroenterolResults: A total of 66 Lynch syndrome patients were identified. Thirty-two gastroscopies were performed in 21 (32%) of them. No gastric cancers were found. The prevalence of precursor lesions (Helicobacter pylori gastritis, atrophic gastritis, and gastric intestinal metaplasia) was 19.05%. A family history of gastric cancer was associated with a non-significant increased risk of abnormal gastroscopy, while sex and specific gene involved did not affect the abnormality rate. Conclusion: Gastric screening in asymptomatic individuals with Lynch syndrome is probably best reserved for high-risk individuals, based on the family history and perhaps ethnicity as suggested by several governing bodies. Larger studies are required to achieve the statistical power necessary to address this controversial issue.

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“…The standardized incidence ratios for developing gastric cancer have been reported to be 2.9 and 6.1 for MLH1 and MSH2 mutations, respectively (24). The risk of Lynch syndromeassociated gastric cancer may be increased in countries with higher incidences of sporadic gastric cancer or high incidences of H pylori infection (60,61).…”

Section: Associated Urothelial (Upper Tract and Bladder) Cancersmentioning

confidence: 99%

Lynch Syndrome: Genomics Update and Imaging Review

et al. 2018

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Lynch syndrome is the most common hereditary cancer syndrome, the most common cause of heritable colorectal cancer, and the only known heritable cause of endometrial cancer. Other cancers associated with Lynch syndrome include cancers of the ovary, stomach, urothelial tract, and small bowel, and less frequently, cancers of the brain, biliary tract, pancreas, and prostate. The oncogenic tendency of Lynch syndrome stems from a set of genomic alterations of mismatch repair proteins. Defunct mismatch repair proteins cause unusually high instability of regions of the genome called microsatellites. Over time, the accumulation of mutations in microsatellites and elsewhere in the genome can affect the production of important cellular proteins, spurring tumorigenesis. Universal testing of colorectal tumors for microsatellite instability (MSI) is now recommended to (a) prevent cases of Lynch syndrome being missed owing to the use of clinical criteria alone, (b) reduce morbidity and mortality among the relatives of affected individuals, and (c) guide management decisions. Organ-specific cancer risks and associated screening paradigms vary according to the sex of the affected individual and the type of germline DNA alteration causing the MSI. Furthermore, Lynch syndrome-associated cancers have different pathologic, radiologic, and clinical features compared with their sporadic counterparts. Most notably, Lynch syndrome-associated tumors tend to be more indolent than non-Lynch syndrome-associated neoplasms and thus may respond differently to traditional chemotherapy regimens. The high MSI in cases of colorectal cancer reflects a difference in the biologic features of the tumor, possibly with a unique susceptibility to immunotherapy. RSNA, 2018.

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Equivalent Helicobacter pylori infection rates in Lynch syndrome mutation carriers with and without a first-degree relative with gastric cancer

Abstract: The recommendation to screen for H. pylori is increasingly followed. The prevalence of infection in this patient group does not differ from the general population. Patients who had a first-degree family member with gastric cancer did not have a higher infection rate.

Cited by 22 publications

References 18 publications

Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis

Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis

Low yield of gastroscopy in patients with Lynch syndrome

Lynch Syndrome: Genomics Update and Imaging Review

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