Cancer risk and genotype–phenotype correlation in Japanese patients with Cowden syndrome

Teramae, Satoshi; Muguruma, Naoki; Okamoto, Koichi; Oseto, Kumiko; Nishikawa, Ryutaro; Tanoue, Takayuki; Hirata, Keiji; Yanai, Shunichi; Matsumoto, Takayuki; Shimizu, Seiji; Miwa, Jun; Sasaki, Yu; Yashima, Kazuo; Ohnuma, Hiroyuki; Sato, Yasushi; Kitayama, Yoshitaka; Ohda, Yoshio; Yamauchi, Atsushi; Sanomura, Yoji; Tanaka, Kumiko; Kubo, Yoshiaki; Ishikawa, Hideki; Bando, Yoshimi; Sonoda, Tomoko; Takayama, Tetsuji

doi:10.1007/s10147-022-02116-w

Cited by 4 publications

(4 citation statements)

References 25 publications

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“…The histological type varies: hyperplastic, inflammatory, hamartomatous, and adenomatous. In CS patients, the risk of CRC related to hamartomatous or mixed-type gastrointestinal polyps may be increased [1, 2, 4]. Since CS has a high risk of complications with cancer, it is important to conduct appropriate surveillance and detect it at a curable stage.…”

Section: Discussionmentioning

confidence: 99%

“…Elevated standardized incidence ratios and estimated lifetime risks of malignant tumors, such as breast cancer, thyroid cancer, endometrial cancer, renal cancer, and colorectal cancer (CRC), in patients with CS are reportedly 25.4 and 85.2%, 51.1 and 35.2%, 42.9 and 28.2%, 30.6 and 33.6%, and 10.3 and 9.0%, respectively [2]. Concerning CRC, the incidence is significantly higher than that in healthy adults [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

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A Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy

Takehara

Ishizaki

Nagakari

et al. 2023

Case Rep Gastroenterol

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Cowden syndrome is characterized by several clinical features related to tumorous lesions primarily consisting of systemic hamartomas. The mutation of a tumor suppressor gene, the <i>PTEN</i> gene, is etiologically involved. As gastrointestinal lesions, polyps of all digestive tracts involving the esophagus to rectum develop. In patients with Cowden syndrome, the risk of colorectal cancer may increase. However, the characteristics of colorectal cancer in these patients remain to be clarified and sufficient findings regarding chemotherapy have not been obtained. A 39-year-old man was treated with a colonic stent for colitis obstructive due to circumferential transverse colon carcinoma. After decompression, elective extended laparoscopic right hemicolectomy was performed. Preoperative systemic detailed examination revealed characteristic dermal/mucosal findings, polyposis of the upper digestive tract, and a thyroid tumor. On <i>PTEN</i> gene sequencing, a mutation was detected at codon 130 of exon 5, leading to a diagnosis of Cowden syndrome. Postoperative adjuvant chemotherapy was performed for 6 months, but recurrent peritoneal dissemination was observed 1 month after its completion. FOLFOXIRI + bevacizumab therapy was started. Transiently, a partial response was achieved in peritoneally disseminated nodes according to the RECIST. There was no increase in the volume of cancerous ascites. However, an increase in the volume of ascites and local relapse were noted at the completion of the tenth course. The regimen was switched to FOLFIRI + panitumumab, but peritoneal dissemination exacerbated and the patient died 18 months after surgery.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy

Takehara

Ishizaki

Nagakari

et al. 2023

Case Rep Gastroenterol

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“…The result was like the evidence shown by Stanich et al, who diagnosed colorectal cancer in 16% of CS patients ( 20 ). However, cases of duodenal carcinoma with CS are rarely reported, let alone in Asian patients ( 21 ). So, it is difficult to make a rapid diagnosis when the very first symptom is gastrointestinal bleeding.…”

Section: Discussionmentioning

confidence: 99%

“…According to the Japanese nationwide multicenter study of CS, the incidence rate of duodenal polyps is 70.2%, which is lower than those of esophageal polyps (85.1%), gastric polyps (91.7%), jejunal/ileal polyps (94.7%), and colorectal polyps (97.7%) ( 21 ). They found the incidence is high of colon cancer (6.1% 3 in 49) afflicted with this syndrome.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

et al. 2022

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IntroductionCowden syndrome is a rare autosomal dominant genetic disease associated with PTEN mutation and is mainly shown as systemic multisystem lesions. The incidence of adenocarcinoma of the duodenum with Cowden syndrome in Asian males is rare. We hereby describe the diagnosis, treatment, and prognosis of a patient with duodenal carcinoma and Cowden syndrome.Case DescriptionA 40-year-old Chinese man was hospitalized because of gastrointestinal hemorrhage and anemia due to infiltrating adenocarcinoma of the descending part of the duodenum. He also had typical signs of Cowden syndrome, such as multiple polyps of the gastrointestinal tract, macrocephaly, papilloma of the tongue, soles hyperkeratosis, and melanosis spots. After the pancreaticoduodenectomy (classic Whipple), the lesions revealed the presence of hamartomatoid polyps, and some of them mutated into non-mucinous adenocarcinoma (80%) and mucinous adenocarcinoma (20%). Further investigation showed a lack of PTEN protein expression in the duodenal neoplasm, and genetic analysis showed the mutation of p.E242fs in PTEN. The patient was followed up for 1 year. There was no appearance of recurrence or distant metastasis.ConclusionIt is suggested that we should pay more attention to the differential diagnosis of duodenal carcinoma combined with gastrointestinal polyps. If multiple gastrointestinal polyps with gastrointestinal bleeding are encountered, Cowden syndrome should be considered, and timely diagnosis and treatment should be implemented.

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Prevalence and Incidence of Peutz–Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022

Matsubara,

Nakamura,

Nakayama

et al. 2024

J of Gastro and Hepatol

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Background and AimPeutz–Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS) are autosomal dominant diseases associated with high cancer risk. In Japan, knowledge about the prevalence and incidence of PJS and JPS is lacking despite being crucial for providing appropriate medical support. We aimed to determine the prevalence and incidence of these diseases.MethodsIn 2022, a nationwide questionnaire survey was conducted to determine the number of patients with PJS or JPS by sex and the number of newly confirmed cases from 2019 to 2021. The target facilities included gastroenterology, pediatrics, and pediatric surgery departments, which were stratified into seven classes on the basis of the total number of beds. We randomly selected target facilities using different extraction rates in each class, resulting in 1748/2912 facilities (extraction rate: 60%) as the final sample. We calculated the estimated number of patients using the response and extraction rates.ResultsA total of 1077 facilities responded to the survey. The estimated numbers of patients with PJS and JPS were 701 (95% confidence interval [CI]: 581–820) and 188 (95% CI: 147–230), respectively. The 3‐year period prevalences of PJS and JPS were 0.6/100000 and 0.15/100000, whereas the incidences in 2021 were 0.07/100000 and 0.02/100000, respectively. Male patients constituted 53.5% and 59.6% in the PJS and JPS groups, respectively.ConclusionsWe determined the prevalence and incidence of PJS and JPS in Japan for the first time. Further research is needed to obtain more detailed information, including the clinical differences and outcomes in Japan.

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Cancer risk and genotype–phenotype correlation in Japanese patients with Cowden syndrome

Cited by 4 publications

References 25 publications

A Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy

A Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

Prevalence and Incidence of Peutz–Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022

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