Clinical Journal of Gastroenterology最新文献

Rapid development of diffuse hepatic calcification in a patient with congenital hepatic fibrosis and secondary hyperparathyroidism. 先天性肝纤维化伴继发性甲状旁腺功能亢进患者弥漫性肝钙化的快速发展。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-06-05 DOI: 10.1007/s12328-025-02154-7

Fumitaka Mizuno, Norihiro Imai, Kazuki Sahara, Shinya Yokoyama, Yoji Ishizu, Takashi Honda, Nobuhiko Kurata, Yasuhiro Fujimoto, Yasuhiro Ogura, Hiroki Kawashima

{"title":"Rapid development of diffuse hepatic calcification in a patient with congenital hepatic fibrosis and secondary hyperparathyroidism.","authors":"Fumitaka Mizuno, Norihiro Imai, Kazuki Sahara, Shinya Yokoyama, Yoji Ishizu, Takashi Honda, Nobuhiko Kurata, Yasuhiro Fujimoto, Yasuhiro Ogura, Hiroki Kawashima","doi":"10.1007/s12328-025-02154-7","DOIUrl":"10.1007/s12328-025-02154-7","url":null,"abstract":"A man in his 20 s with congenital hepatic fibrosis and polycystic kidney disease (PKD) presented with symptoms of anemia. Upper gastrointestinal endoscopy revealed mild exudative hemorrhage due to gastric antral vascular ectasia, which was treated with argon plasma coagulation. Computed tomography (CT) at admission revealed diffuse hepatic calcification and ectopic calcifications in the left buttock and bilateral inguinal regions. CT performed five months earlier showed no hepatic calcification, indicating rapid progression. The patient had been receiving maintenance hemodialysis for four months because of end-stage chronic kidney disease due to PKD. Laboratory tests revealed hypercalcemia (10.9 mg/dL), hyperphosphatemia (8.3 mg/dL), markedly elevated intact parathyroid hormone (1,640 pg/mL), and low 1,25-dihydroxy vitamin D (17.6 pg/mL), consistent with secondary hyperparathyroidism. Treatment with evocalcet and dialysis regimen adjustments led to improvements in laboratory parameters. However, following discharge, the patient experienced recurrent hospitalization due to gastrointestinal bleeding, hepatic encephalopathy, and biliary tract infections. Progressive hepatic calcification ultimately led to a decline in liver function, necessitating simultaneous brain-dead donor liver and kidney transplantation 17 months after the initial admission. This case highlights the complex interplay between congenital hepatic fibrosis, mineral metabolism disturbances associated with dialysis, and the rare occurrence of rapidly progressing hepatic calcification.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"734-738"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224567","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}

引用次数: 0

A successfully resected case of giant hepatic hemangioma with symptomatic massive pleural effusion: a case report. 巨大肝血管瘤伴大量胸膜积液成功切除1例。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-04-24 DOI: 10.1007/s12328-025-02134-x

Yasuto Futagawa, Koichiro Haruki, Masashi Tsunematsu, Shinji Onda, Norimitsu Okui, Kenei Furukawa, Michinori Matsumoto, Tadashi Uwagawa, Kyohei Abe, Toru Ikegami

{"title":"A successfully resected case of giant hepatic hemangioma with symptomatic massive pleural effusion: a case report.","authors":"Yasuto Futagawa, Koichiro Haruki, Masashi Tsunematsu, Shinji Onda, Norimitsu Okui, Kenei Furukawa, Michinori Matsumoto, Tadashi Uwagawa, Kyohei Abe, Toru Ikegami","doi":"10.1007/s12328-025-02134-x","DOIUrl":"10.1007/s12328-025-02134-x","url":null,"abstract":"Giant hepatic hemangiomas can be symptomatic and develop complications, therefore, surgical interventions are considered for such cases. However, hepatic hemangioma presenting pleural effusion is extremely rare. The patient was a 68-year-old female presenting dyspnea, and was referred to our hospital for evaluation of giant hepatic hemangioma of 20 cm with right pleural effusion. Contrast-enhanced computed tomography showed a giant hepatic hemangioma, which stretched umbilical portion, right Glissonean pedicle, and middle hepatic vein and compressed inferior vena cava. The right diaphragm was cranially elevated. Massive pleural effusion was observed. We diagnosed as symptomatic giant hepatic hemangioma. Three days before surgery, right hepatic artery embolization was performed to reduce the tumor volume at the timing of surgery. Intraoperative findings revealed the tumor was severely adherent to the diaphragm and there were feeding arteries from there. Extended right hemihepatectomy with thoracic drainage were performed. The pathologic evaluation confirmed cavernous hemangioma. Postoperative courses were uneventful and the chest tube was removed on postoperative day 4. The patient was discharged on postoperative day 8. One month after the operation, she remained well without recurrence of pleural effusion. We herein report a successfully treated case of giant hepatic hemangioma with symptomatic massive pleural effusion.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"684-688"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976560","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}

引用次数: 0

Intrapancreatic cholangiocarcinoma associated with pancreaticobiliary maljunction without bile duct dilatation 27 years after cholecystectomy. 胆囊切除术后27年胰内胆管癌合并胰胆管畸形无胆管扩张。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-04-15 DOI: 10.1007/s12328-025-02131-0

Hirotaka Kashima, Akihisa Fukuda, Taro Ueo, Ryuki Minami, Masaya Ohana, Hiroshi Seno

{"title":"Intrapancreatic cholangiocarcinoma associated with pancreaticobiliary maljunction without bile duct dilatation 27 years after cholecystectomy.","authors":"Hirotaka Kashima, Akihisa Fukuda, Taro Ueo, Ryuki Minami, Masaya Ohana, Hiroshi Seno","doi":"10.1007/s12328-025-02131-0","DOIUrl":"10.1007/s12328-025-02131-0","url":null,"abstract":"A 77-year-old woman was referred to our hospital because of dilatation of the common bile duct. She had undertaken cholecystectomy for abdominal pain and abnormality of gallbladder 27 years before. Computed tomography (CT) and endoscopic ultrasonography (EUS) showed a tumor in the intrapancreatic bile duct and dilatation of the extrahepatic and intrahepatic bile ducts. Endoscopic retrograde cholangiopancreatography (ERCP) revealed a tumor in the intrapancreatic bile duct and pancreaticobiliary maljunction (PBM). Previous CT did not show dilatation of the bile duct, indicating that she had PBM without biliary dilatation. Biopsy of the tumor revealed adenocarcinoma, and she was diagnosed with distal cholangiocarcinoma. She undertook pancreatoduodenectomy. Pancreatography of the surgically resected specimen confirmed the connection between the main pancreatic duct and common bile duct. The final pathological diagnosis of the tumor was intrapancreatic papillary adenocarcinoma, pT2N0M0, stage IB. Recurrence has not been observed for 6 years after surgery. For PBM without bile duct dilatation, prophylactic cholecystectomy is recommended to prevent gallbladder carcinoma; however, biliary diversion surgery is controversial and is not generally recommended. Our case underscores that PBM without bile duct dilatation has a risk of extrahepatic biliary cancer and that careful follow-up is important after prophylactic cholecystectomy for a long period.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"660-666"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983271","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}

引用次数: 0

A rare case of hereditary angioedema with exclusive gastrointestinal symptoms and no cutaneous involvement. 罕见的遗传性血管性水肿病例，仅伴有胃肠道症状，无皮肤受累。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-05-16 DOI: 10.1007/s12328-025-02147-6

Xuan Wu, Tengfei Yin, Yanbo Yu

引用次数: 0

A case of non-HIV pneumocystis pneumonia in a patient with cirrhosis-associated immune dysfunction. 肝硬化相关免疫功能障碍患者的非hiv肺囊虫性肺炎1例。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-06-03 DOI: 10.1007/s12328-025-02149-4

Kai Miyamoto, Yoshihito Uchida, Shohei Tsuji, Mie Inao, Kayoko Sugawara, Masamitsu Nakao, Nobuaki Nakayama, Yukinori Imai, Suguru Mizuno, Satoshi Mochida

{"title":"A case of non-HIV pneumocystis pneumonia in a patient with cirrhosis-associated immune dysfunction.","authors":"Kai Miyamoto, Yoshihito Uchida, Shohei Tsuji, Mie Inao, Kayoko Sugawara, Masamitsu Nakao, Nobuaki Nakayama, Yukinori Imai, Suguru Mizuno, Satoshi Mochida","doi":"10.1007/s12328-025-02149-4","DOIUrl":"10.1007/s12328-025-02149-4","url":null,"abstract":"A 55-year-old man with a 13-year history of alcohol-related cirrhosis was admitted for the management of refractory ascites. On day 4 of hospitalization, he developed dyspnea, and chest computed tomography (CT) revealed ground-glass opacities and reticular shadows in both lungs, predominantly in the left upper lobe. Aspiration pneumonia was initially suspected, and cefmetazole was administered. However, by day 11, his respiratory status deteriorated, with SpO₂ dropping to 90%. A follow-up chest CT showed progression of bilateral ground-glass opacities. Further testing revealed an elevated β-D-glucan level of 142.5 pg/mL and KL-6 level of 1.770 U/mL, along with a positive sputum PCR for Pneumocystis jirovecii, confirming a diagnosis of pneumocystis pneumonia (PCP). As human immunodeficiency virus (HIV) testing was negative, he was diagnosed with non-HIV PCP. Despite treatment with trimethoprim-sulfamethoxazole and hydrocortisone, he died on day 17. Notably, his peripheral lymphocyte count was below 500/μL before admission, suggesting that cirrhosis-associated immune dysfunction (CAID) contributed to his susceptibility to non-HIV PCP. This case highlights the importance of monitoring peripheral lymphocyte counts in patients with advanced liver cirrhosis, as CAID may increase the risk of life-threatening infections such as non-HIV PCP.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"714-720"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207841","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}

引用次数: 0

Laparoscopic distal pancreatectomy for multiple pancreatic solid pseudopapillary neoplasms with marked calcification in a middle-aged female. 腹腔镜胰腺远端切除术治疗1例中年女性多发胰腺实性假乳头状肿瘤伴明显钙化。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-05-26 DOI: 10.1007/s12328-025-02152-9

Yuzuru Sakamoto, Eriko Aimono, Yunosuke Takishin, Tetsuhito Muranaka, Tomoya Kurose, Takaya Ishikawa, Hirotaka Shoji, Hiroki Nakamoto, Takahiro Oshima, Akinobu Taketomi

{"title":"Laparoscopic distal pancreatectomy for multiple pancreatic solid pseudopapillary neoplasms with marked calcification in a middle-aged female.","authors":"Yuzuru Sakamoto, Eriko Aimono, Yunosuke Takishin, Tetsuhito Muranaka, Tomoya Kurose, Takaya Ishikawa, Hirotaka Shoji, Hiroki Nakamoto, Takahiro Oshima, Akinobu Taketomi","doi":"10.1007/s12328-025-02152-9","DOIUrl":"10.1007/s12328-025-02152-9","url":null,"abstract":"Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare, low-grade malignant tumor that primarily affects young females. Multiple SPNs, particularly in older females, are extremely rare. While these tumors generally have a good prognosis, some may progress to malignancy. A 66-year-old female presented with back pain, and CT revealed two calcified masses in the pancreas. The tumor marker levels were normal, and contrast-enhanced CT, ultrasound, and MRI findings suggested multiple SPNs. Owing to significant calcification, preoperative biopsy was not feasible, so laparoscopic distal pancreatectomy (LDP) was performed for diagnosis and treatment. Histopathological examination revealed tumor cells with a round morphology, which were arranged in nested formations, along with areas of calcification on H&E staining. Immunohistochemical analysis revealed positive staining for CD56, vimentin, and β-catenin, whereas bcl-10 was negative, supporting the definitive diagnosis of multiple SPNs. Although SPNs generally have a good prognosis, recurrence is possible, emphasizing the need for complete resection and long-term follow-ups. Even when preoperative biopsy is difficult due to calcification, aggressive surgical resection is crucial for long-term successful prognoses. Furthermore, LDP offers advantages over traditional open surgery, such as reduced blood loss and faster recovery, and may be considered for diagnosis and treatment in such cases.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"727-733"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141594","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}

引用次数: 0

Rare rapid progression of intra-ampullary papillary-tubular neoplasm with low-grade dysplasia. 罕见的壶腹内乳头-管状肿瘤伴低级别不典型增生的快速进展。

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Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-06-25 DOI: 10.1007/s12328-025-02159-2

Karen Kimura, Kazuya Koizumi, Sakue Masuda, Makomo Makazu, Jun Kubota, Toshiyasu Kawahara, Hiroki Yamaue, Shinichi Teshima

{"title":"Rare rapid progression of intra-ampullary papillary-tubular neoplasm with low-grade dysplasia.","authors":"Karen Kimura, Kazuya Koizumi, Sakue Masuda, Makomo Makazu, Jun Kubota, Toshiyasu Kawahara, Hiroki Yamaue, Shinichi Teshima","doi":"10.1007/s12328-025-02159-2","DOIUrl":"10.1007/s12328-025-02159-2","url":null,"abstract":"A 78-year-old woman presented with epigastric pain and underwent contrast-enhanced abdominal computed tomography (CT), which revealed a mass in the ampullary region. Endoscopic ultrasonography (EUS) and retrograde cholangiopancreatography (ERCP) confirmed a papillary lesion with a contrast defect in the bile duct. An initial biopsy suggested an adenoma. Owing to the extent of the lesion, surgery was recommended; however, the patient opted for follow-up. After five months, CT and EUS revealed significant tumor growth, raising the suspicion of malignancy. Consequently, subtotal stomach-preserving pancreatoduodenectomy was performed, and postoperative pathology confirmed an intra-ampullary papillary tubular neoplasm (IAPN) with low-grade dysplasia. IAPN is noninvasive and consists of the growth of the ductal epithelium, which is equivalent to adenoma or low-grade adenocarcinoma. Although it is generally characterized by slow growth owing to its noninvasive nature, this case was unique in that it showed rapid progression. Despite being a low-grade IAPN, this case represents a rare instance of rapid enlargement within five months. This case underscores the importance of vigilant monitoring of low-grade IAPN, given its potential for accelerated growth.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"753-759"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144483408","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}

引用次数: 0

Conversion surgery following severe cytokine release syndrome induced by immune checkpoint inhibitors doublet in advanced hepatocellular carcinoma. 晚期肝癌患者免疫检查点抑制剂双靶诱导的严重细胞因子释放综合征后的转化手术。

IF 0.9

Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-06-11 DOI: 10.1007/s12328-025-02155-6

Haruki Mori, Hiromitsu Maehira, Nobuhito Nitta, Hajime Ishikawa, Toru Miyake, Sachiko Kaida, Katsushi Takebayashi, Masatsugu Kojima, Yusuke Nishina, Masaji Tani

{"title":"Conversion surgery following severe cytokine release syndrome induced by immune checkpoint inhibitors doublet in advanced hepatocellular carcinoma.","authors":"Haruki Mori, Hiromitsu Maehira, Nobuhito Nitta, Hajime Ishikawa, Toru Miyake, Sachiko Kaida, Katsushi Takebayashi, Masatsugu Kojima, Yusuke Nishina, Masaji Tani","doi":"10.1007/s12328-025-02155-6","DOIUrl":"10.1007/s12328-025-02155-6","url":null,"abstract":"Background: Combination immunotherapy, particularly the STRIDE regimen (durvalumab plus tremelimumab), is recommended as first-line treatment for advanced hepatocellular carcinoma (HCC). Cytokine release syndrome (CRS), while rare, can be a life-threatening adverse event associated with immune checkpoint inhibitors (ICIs). The relationship between CRS and antitumor activity remains unclear; however, some studies suggest that the occurrence of immune-related adverse events (irAEs) may be indicative of enhanced immune activation. We report a case in which severe CRS following ICI therapy led to marked tumor shrinkage and enabled conversion surgery.Case presentation: An 85-year-old woman presented with a 100 mm HCC in the right hepatic lobe with intrahepatic metastases, initially deemed unresectable. She received the STRIDE regimen and developed Grade 3 CRS with fever, hypotension, and multi-organ dysfunction. Corticosteroid therapy led to rapid clinical improvement. Three months post-treatment, imaging revealed tumor regression (from 100 mm to 60 mm) and significant decline in tumor markers (AFP 1550-110 ng/mL; PIVKA-2 32,600 to 79 AU/mL). Extended anterior sectionectomy was performed, with histopathology showing 90% tumor necrosis. The postoperative course was uneventful, and the patient was discharged on postoperative day 16.Conclusion: CRS is a potentially severe irAE that may also signal favorable immune activation. Early recognition and appropriate management of CRS are essential, and in select cases, ICI-induced CRS may facilitate curative conversion surgery in advanced HCC.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"739-745"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274307","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}

引用次数: 0

Primary malignant melanoma of the esophagus arising from melanocytosis: a case report and literature review. 由黑色素细胞增多症引起的食道原发性恶性黑色素瘤1例报告并文献复习。

IF 0.9

Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-05-16 DOI: 10.1007/s12328-025-02129-8

Makoto Ando, Naoki Enomoto, Kyoko Nohara, Shusuke Yagi, Daiki Kato, Hanako Koda, Kazuhiko Yamada, Norihiro Kokudo

{"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":"10.1007/s12328-025-02129-8","url":null,"abstract":"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.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"545-551"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","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}

引用次数: 0

A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype. 伴有SMAD4嵌合变异的胃局限性青少年息肉病综合征1例，表现为缓慢进展的表型。

IF 0.9

Clinical Journal of Gastroenterology Pub Date : 2025-08-01 Epub Date: 2025-05-15 DOI: 10.1007/s12328-025-02146-7

Hiroki Fukuya, Taisuke Sasaki, Eikichi Ihara, Daisuke Yoshimura, Ryota Okitsu, Akito Ohkubo, Yuki Matsushita, Hirofumi Hasuda, Yoshihisa Sakaguchi, Naohiko Harada

{"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":"10.1007/s12328-025-02146-7","url":null,"abstract":"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.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"601-609"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","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}

引用次数: 0