Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population

Kumamoto, Kensuke; Ishida, Hideyuki; Suzuki, Okihide; Tajima, Yusuke; Chika, Noriyasu; Kuwabara, Kouki; Ishibashi, Keiichiro; Saito, Katsuharu; Nagata, Koji; Eguchi, Hidetaka; Tamaru, Jun‐ichi; Iwama, Takeo

doi:10.1007/s00595-015-1232-1

Cited by 12 publications

(19 citation statements)

References 41 publications

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“…In patients with synchronous CRCs, the tumor that showed the greater depth of invasion on histologic examination than the other(s) or whose diameter was larger than that of the other(s) was considered as the representative tumor. Our previous study (20) was conducted in 138 CRC patients younger than 60 years old who had undergone surgery between January 2005 and August 2010, and data from these patients were included in the analyses in this study.…”

Section: Patient Selectionmentioning

confidence: 99%

“…We previously reported, based on our analysis of 138 CRC patients younger than 60 years by both IHC for MMR proteins and MSI testing, that the prevalence of LS among Japanese CRC patients might be lower than those reported from Western countries (20). This study was undertaken as an extension of this previous study to determine the prevalence of LS and LLS in a Japanese hospital-based population, which seems to show a high level of ethnic homogeneity, by using the universal screening approach, wherein specimens from all newly diagnosed CRC patients were examined by IHC for MMR proteins, followed by somatic BRAF mutation testing and somatic MLH1 promoter methylation analysis.…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population

Chika

Eguchi

Kumamoto

et al. 2016

Japanese Journal of Clinical Oncology

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Objective: We investigated the prevalence of Lynch syndrome and Lynch-like syndrome among Japanese colorectal cancer patients, as there have been no credible data from Japan. Methods: Immunohistochemical analyses for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were carried out in surgically resected, formalin-fixed paraffin-embedded specimens obtained from 1,234 newly diagnosed colorectal cancer patients between March 2005 and April 2014. The presence/absence of the BRAF V600E mutation and hypermethylation of the MLH1 promoter was analyzed where necessary. Genetic testing was finally undertaken in patients suspected as having Lynch syndrome. Results: By the universal screening approach with immunohistochemical analysis for mismatch repair proteins followed by analyses for the BRAF V600E mutation and MLH1 promoter methylation status, 11 (0.9%) of the 1,234 patients were identified as candidates for genetic testing. Out of the 11 patients, 9 (0.7%) were finally diagnosed as having Lynch syndrome; the responsible genes included MLH1 (n = 1), MSH2 (n = 4), EPCAM (n = 1) and MSH6 (n = 3). The remaining two patients (0.2%) were regarded as having Lynch-like syndrome, since biallelic somatic deletion of the relevant mismatch repair genes was detected in the absence of germline mismatch repair alterations. None of the cases was identified as having germline MLH1 epimutation. Conclusions: The prevalence of Lynch syndrome among all newly diagnosed cases of colorectal cancer in Japan is in the same range as that recently reported by studies in Western population. The prevalence of Lynch-like syndrome seems to be extremely low.

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Section: Patient Selectionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population

Chika

Eguchi

Kumamoto

et al. 2016

Japanese Journal of Clinical Oncology

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“…Data about hereditary CRC in Japan are limited . Our department has developed the surgical procedure of proctocolectomy with hand‐sewn ileal J‐pouch anal anastomosis, and reported effective pharmacological management of advanced desmoid tumor using dacarbazine and doxorubicin .…”

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“…(18) Familial adenomatous polyposis is a hereditary disease caused by mutations of APC. (4,5,10,18) All patients with FAP are considered to have had CRC at some point during their lifetime, unless they have received any treatment for adenomatous polyposis. (4,5,10,18) Therefore, follow-up by colonoscopy from the teenage years onwards and preventive proctocolectomy are recommended to patients and relatives with FAP.…”

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confidence: 99%

“…(4,5,10,18) All patients with FAP are considered to have had CRC at some point during their lifetime, unless they have received any treatment for adenomatous polyposis. (4,5,10,18) Therefore, follow-up by colonoscopy from the teenage years onwards and preventive proctocolectomy are recommended to patients and relatives with FAP. (4,5,11,19) The rare desmoid tumor is one of the common diseases that accompanies FAP.…”

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Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan

et al. 2017

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Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and are associated with other malignancies. There is some heterogeneity in management strategies in Japan. We undertook a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research. One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015. The DCCHs performed better with regard to usage of Japan Society of Colorectal Cancer Research guidelines, referring new CRC patients for LS screening, and having in‐house genetic counselors and knowledge of treatment for LS. There were 174 patients diagnosed with LS and 602 undergoing follow‐up in 2011–2015, which is fewer than the number expected from CRC operations in 2015. These numbers were not affected by whether the institution was a DCCH. Universal screening for LS was carried out in 8% of the departments. In contrast, 541 patients were diagnosed with FAP and 273 received preventive proctocolectomy/colectomy in 2011–2015. The DCCH departments undertook more surgery than non‐DCCH departments, although most of the management, including surgical procedures and use of non‐steroidal anti‐inflammatory drugs, was similar. Management of desmoid tumor in the abdominal cavity differed according to the number of patients treated. In conclusion, there was heterogeneity in management of LS but not FAP. Most patients with LS may be overlooked and universal screening for LS is not common in Japan.

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Hereditary gastrointestinal cancer

et al. 2015

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Gastrointestinal (GI) cancer, including gastric and colorectal cancer, is a major cause of death worldwide. A substantial proportion of patients with GI cancer have a familial history, and several causative genes have been identified. Gene carriers with these hereditary GI syndromes often harbor several kinds of cancer at an early age, and genetic testing and specific surveillance may save their lives through early detection. Gastroenterologists and GI surgeons should be familiar with these syndromes, even though they are not always associated with a high penetrance of GI cancer. In this review, we provide an overview and discuss the diagnosis, genetic testing, and management of four major hereditary GI cancers: familial adenomatous polyposis, Lynch syndrome, hereditary diffuse gastric cancer, and Li-Fraumeni syndrome.

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Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population

Abstract: The prevalence of Lynch syndrome among hospital-based diagnosed cancer patients may therefore be lower than expected in Japan compared with Western populations.

Cited by 12 publications

References 41 publications

Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population

Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population

Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan

Hereditary gastrointestinal cancer

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