{"title":"A rare case of hereditary angioedema with exclusive gastrointestinal symptoms and no cutaneous involvement.","authors":"Xuan Wu, Tengfei Yin, Yanbo Yu","doi":"10.1007/s12328-025-02147-6","DOIUrl":"https://doi.org/10.1007/s12328-025-02147-6","url":null,"abstract":"<p><p>We report a case of hereditary angioedema presenting solely with gastrointestinal symptoms, including abdominal pain and bloating. The patient experienced recurrent abdominal pain for 4 years, without any evident clinical features such as skin or mucosal edema. Almost every episode occurred more than 10 days after the conclusion of menstruation. Ultimately, the diagnosis was confirmed through whole-exome sequencing and the evaluation of relevant indicators.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Primary malignant melanoma of the esophagus arising from melanocytosis: a case report and literature review.","authors":"Makoto Ando, Naoki Enomoto, Kyoko Nohara, Shusuke Yagi, Daiki Kato, Hanako Koda, Kazuhiko Yamada, Norihiro Kokudo","doi":"10.1007/s12328-025-02129-8","DOIUrl":"https://doi.org/10.1007/s12328-025-02129-8","url":null,"abstract":"<p><p>Primary malignant melanoma of the esophagus (PMME), a rare histologic type of esophageal cancer, accounts for 0.1-0.8% of all primary esophageal tumors. Esophagectomy is the main treatment in the absence of distant metastasis. Black lesions in esophageal mucosa (melanosis) and presence of melanocytes in biopsy specimen (melanocytosis) may be precancerous but have rarely been demonstrated to be associated with PMME so far. Here, we present a case of PMME arising from melanocytosis during follow-up, and conduct a literature review of cases in which PMME developed during the follow-up of melanosis. A 79-year-old woman underwent esophagogastroduodenoscopy, which revealed a black pigmented lesion in the esophagus. Biopsy results revealed melanocytes without atypia, indicating melanocytosis. One-year follow-up revealed that the lesion had enlarged, and she was referred to our hospital. Further evaluation confirmed the diagnosis of malignant melanoma without metastasis. Thoracoscopic esophagectomy was performed, and retrosternal reconstruction was made with a gastric conduit. The histopathologic evaluation confirmed PMME. The patient experienced minor postoperative anastomotic leakage but recovered with conservative treatment. No recurrence was detected at last follow-up 2 years after surgery.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Intraduodenal wall recurrence 11 years after distal pancreatectomy for pancreatic ductal adenocarcinoma.","authors":"Mikkaichi Ko, Junichi Kaneko, Rika Fujino, Hisamichi Yoshii, Hideki Izumi, Tomoko Sugiyama, Takuma Tajiri, Tomoko Hanashi, Masaya Mukai, Hiroyasu Makuuchi","doi":"10.1007/s12328-025-02141-y","DOIUrl":"https://doi.org/10.1007/s12328-025-02141-y","url":null,"abstract":"<p><p>Although late recurrence of pancreatic ductal adenocarcinoma (PDAC) is rare, it has been observed in local or regional lymph nodes, as well as in the liver, lung, or peritoneum. We report the first case of intraduodenal wall recurrence 11 years after distal pancreatectomy for PDAC.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.","authors":"Hiroki Fukuya, Taisuke Sasaki, Eikichi Ihara, Daisuke Yoshimura, Ryota Okitsu, Akito Ohkubo, Yuki Matsushita, Hirofumi Hasuda, Yoshihisa Sakaguchi, Naohiko Harada","doi":"10.1007/s12328-025-02146-7","DOIUrl":"https://doi.org/10.1007/s12328-025-02146-7","url":null,"abstract":"<p><p>Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder caused by pathogenic variants in the mothers against decapentaplegic homolog 4 (SMAD4) and bone morphogenetic protein receptor type 1A (BMPR1A) genes. It is characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. We report a case of a 73-year-old Japanese male with sporadic, gastric-localized JPS harboring a SMAD4 mosaic variant who presented with slowly progressive endoscopic lesions. Endoscopy at the age of 55 revealed erythematous and edematous mucosa in the gastric fundus. During the following 18 years, the patient developed progressive gastric polyposis, leading to refractory anemia and hypoalbuminemia. Genetic testing identified a SMAD4 frameshift mosaic variant (c.1245_1248del (p.Asp415Glufs)) with an allele frequency of 23%. A total gastrectomy with D1 lymphadenectomy was performed, confirming the JPS diagnosis and the identification of a localized gastric adenocarcinoma without lymph node metastasis. This case highlights the unique natural history of JPS with a SMAD4 mosaic variant, which potentially contributes to a slowly progressive phenotype.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ascending colon cancer with spontaneous regression of the primary tumor despite persistent isolated regional lymph node metastasis.","authors":"Yu Watahiki, Kazumasa Kawashima, Michio Onizawa, Daiki Nemoto, Takuro Matsumoto, Wataru Sakamoto, Rei Sekine, Yuko Hashimoto, Takuto Hikichi, Hiromasa Ohira","doi":"10.1007/s12328-025-02143-w","DOIUrl":"https://doi.org/10.1007/s12328-025-02143-w","url":null,"abstract":"<p><p>Spontaneous regression of cancer, particularly that of colorectal cancer, is rare. We encountered a rare case of spontaneous regression of ascending colon cancer with regional lymph node metastasis. A 70-year-old woman was referred for colonoscopy after a fecal immunochemical test yielded positive results. A colonoscopy revealed a 15-mm depressed lesion that was confirmed as adenocarcinoma. Regression of the primary tumor was observed over the course of multiple endoscopic examinations. Subsequently, robot-assisted laparoscopic right hemicolectomy and D3 lymph node dissection were performed. A histopathological examination revealed complete regression of the primary tumor. However, metastasis to a regional lymph node was observed. Immunohistochemistry indicated colon cancer with high microsatellite instability, infiltration of CD4-positive T cells, and predominant infiltration of CD8-positive T cells at the primary site and metastatic lymph node. Immunological studies of the regressed primary tumor and remaining lymph node metastasis instigated a discussion regarding spontaneous regression mechanisms. This case emphasizes the necessity for vigilant clinical management of similar cases because the potential for lymph node metastasis persists even when the spontaneous regression of the primary tumor is observed.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pimitespib therapy for a patient with PDGFRA D842V-mutant gastrointestinal stromal tumor.","authors":"Tatsuo Kanda, Masafumi Ishikawa, Kae Techigawara, Toshiyuki Saginoya, Koichi Hamada, Motonobu Saito, Noriyuki Uesugi, Yasushi Teranishi","doi":"10.1007/s12328-025-02144-9","DOIUrl":"https://doi.org/10.1007/s12328-025-02144-9","url":null,"abstract":"<p><p>Gastrointestinal stromal tumors (GISTs) with platelet-derived growth factor receptor alpha (PDGFRA) mutations are resistant to tyrosine kinase inhibitors. Pimitespib, a novel heat shock protein 90 inhibitor, was recently approved as a fourth-line treatment for advanced GISTs; however, data on its efficacy against PDGFRA-mutant GISTs remain scarce. We report a case of a 67-year-old male with a gastric GIST harboring a PDGFRA exon 18 Asp842Val mutation. The patient presented with a large peritoneal metastasis at the hepatic hilum and underwent proton beam therapy, achieving 8 months of disease control. However, the tumor progressed thereafter. Regorafenib was introduced but failed immediately owing to tumor penetration. The treatment was switched to pimitespib (160 mg daily, 5 days on, 2 days off, per 21-day cycle), and the patient completed four cycles of the therapy. Post-treatment <sup>18</sup>F-fluorodeoxyglucose (FDG)-positron emission tomography showed a significant reduction in FDG uptake by the metastatic lesion. Pimitespib therapy was eventually discontinued because of duodenal bleeding, with a time to treatment failure of 13 weeks. Although based on a single case, this report demonstrates a significant metabolic response to pimitespib in PDGFRA-mutant GIST. More cases are required to fully elucidate the efficacy of this therapy against such rare tumors.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of anastomotic recurrence 12 years after intersphincteric resection for anorectal malignant melanoma.","authors":"Sato Nishida, Tatsuya Shonaka, Tomohiro Takeda, Masahide Otani, Mizuho Ohara, Chikayoshi Tani, Manami Hayashi, Tomoe Nakagawa, Kimiharu Hasegawa, Hideki Yokoo","doi":"10.1007/s12328-025-02140-z","DOIUrl":"https://doi.org/10.1007/s12328-025-02140-z","url":null,"abstract":"<p><p>Anorectal malignant melanoma (AMM) is a rare disease with a poor prognosis, accounting for < 1.0% of all malignant melanomas and a 5-year survival rate of 19.2%. The treatment is mainly surgical, and lymph-node dissection is often performed. Cases of recurrence after a prolonged period (> 10 years), as in the present case, are rare. The patient was an 80-year-old woman who underwent laparoscopic intersphincteric resection with bilateral lateral lymph-node dissection for the diagnosis of primary AMM of the lower rectum at X - 12 years. The pathology was pStage III and the resection margins were negative. Twelve years after the initial surgery, in year X, the patient visited our hospital with the chief complaint of discomfort due to a tumor in the anorectal region. Biopsy revealed a recurrence, and laparoscopic abdominoperineal resection was performed. Based on the pathological findings, the patient was diagnosed with local recurrence of the anastomotic anal canal. Both the first and second specimens were negative for BRAF V600E/K mutation. Four months have passed since the surgery, and the patient continued to receive nivolumab without recurrence. Long-term local follow-up is necessary when the anal canal is preserved during AMM surgery.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143956218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Olmesartan-associated gastroduodenitis that was detected on endoscopic follow-up.","authors":"Yusuke Oki, Takayoshi Yamada, Mai Tatsuno, Mitsuko Iguchi, Hideyuki Miyachi, Kazushige Uchida","doi":"10.1007/s12328-025-02137-8","DOIUrl":"https://doi.org/10.1007/s12328-025-02137-8","url":null,"abstract":"<p><p>We present a rare case of olmesartan-associated gastroduodenitis in a 65-year-old female with predominant upper gastrointestinal symptoms and significant changes in endoscopic findings over a short period. The patient presented with epigastralgia and nausea but no diarrhea. Esophagogastroduodenoscopy (EGD) performed 26 months earlier showed a duodenal ulcer and partial mucosal atrophy in the lower gastric body. EGD conducted at our hospital revealed diffuse atrophic mucosa throughout the stomach and fragile mucosa from the middle gastric body to the antrum, with white purulent adhesions. Diffuse inflammatory changes were also observed in the duodenal bulb and descending part. Mucosal biopsy showed atrophic changes, inflammatory cell infiltrations, and epithelial detachments in both the stomach and duodenum. Colonoscopy findings were normal. After discontinuing olmesartan, the patient's symptoms improved immediately. A follow-up EGD conducted 4 months after discontinuation revealed marked improvement in the stomach and duodenum. At 16 months post-discontinuation, the patient remained asymptomatic, with minimal inflammation and residual gastric atrophy observed on EGD. This case underscores the importance of considering olmesartan as a potential cause of gastroduodenitis, particularly when symptoms and endoscopic findings improve after discontinuation of the medication.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Long-term survival with complete remission after irinotecan plus cisplatin therapy for metachronous liver metastasis from a gastric mixed neuroendocrine-non-neuroendocrine neoplasm: a case report.","authors":"Kazuhiro Yasuda, Shoichi Inokuchi, Satoshi Tsutsumi, Hiroomi Takayama, Masahiko Ikebe, Toshio Bandou, Tohru Utsunomiya, Shogo Urabe","doi":"10.1007/s12328-025-02139-6","DOIUrl":"https://doi.org/10.1007/s12328-025-02139-6","url":null,"abstract":"<p><p>Gastric mixed neuroendocrine-non-neuroendocrine neoplasm, which consists of both exocrine and endocrine components, is rare and exhibits aggressive biological behavior and poor prognosis. A 64-year-old man underwent investigation for abdominal pain. An endoscopic examination revealed a 30-mm protruded lesion in the gastric antrum for which distal gastrectomy with lymph node dissection was performed. Histopathological examination showed two distinct components, an adenocarcinoma component and neuroendocrine carcinoma component, with immunohistochemical staining positive for CD56, chromogranin A, and synaptophysin. The final diagnosis was mixed neuroendocrine-non-neuroendocrine neoplasm, pT2, pN3, M0, stage IIIA. Multiple liver metastases were detected 3 months after surgery. The patient received irinotecan plus cisplatin therapy, which was effective, and the liver metastases disappeared. The patient remains alive, without any recurrence, more than 10 years after surgery. We present a rare case of gastric mixed neuroendocrine-non-neuroendocrine neoplasm and review the literature to contribute to improving our understanding of this kind of tumor.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of ulcerative colitis in a patient undergoing surgery due to exacerbation resulting in toxic megacolon after SARS-CoV-2 vaccination.","authors":"Ryota Ogihara, Minoru Matsuura, Takuya Ishida, Hiromu Morikubo, Tatsuya Mitsui, Daisuke Saito, Jun Miyoshi, Junji Shibahara, Eiji Sunami, Tadakazu Hisamatsu","doi":"10.1007/s12328-025-02136-9","DOIUrl":"https://doi.org/10.1007/s12328-025-02136-9","url":null,"abstract":"<p><p>We herein report a case involving a patient with quiescent ulcerative colitis (UC) in long-term clinical remission whose condition rapidly worsened after receiving a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination, leading to colectomy due to toxic megacolon. The patient received the fifth dose of the Spikevax (mRNA-1273) vaccine and experienced a severe flare-up of UC 6 days later. Pathologic findings of the surgical specimens were consistent with severe active UC concomitant with cytomegalovirus infection. Because mRNA vaccines stimulate both humoral and cellular immunogenicity, it is important to note that they can be a triggering factor for the relapse of UC.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}