Clinical Journal of Gastroenterology最新文献

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A case of rectal mixed neuroendocrine-non-neuroendocrine neoplasm diagnosed only after radical surgery: implications of diagnostic timing for therapeutic decision-making. 直肠混合神经内分泌-非神经内分泌肿瘤一例根治性手术后诊断:诊断时间对治疗决策的意义。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-21 DOI: 10.1007/s12328-026-02422-0
Ryoma Yokoi, Keita Matsumoto, Ryuichi Asai, Jesse Yu Tajima, Masahiro Fukada, Yuta Sato, Itaru Yasufuku, Yoshihiro Tanaka, Tatsuhiko Miyazaki, Nobuhisa Matsuhashi
{"title":"A case of rectal mixed neuroendocrine-non-neuroendocrine neoplasm diagnosed only after radical surgery: implications of diagnostic timing for therapeutic decision-making.","authors":"Ryoma Yokoi, Keita Matsumoto, Ryuichi Asai, Jesse Yu Tajima, Masahiro Fukada, Yuta Sato, Itaru Yasufuku, Yoshihiro Tanaka, Tatsuhiko Miyazaki, Nobuhisa Matsuhashi","doi":"10.1007/s12328-026-02422-0","DOIUrl":"https://doi.org/10.1007/s12328-026-02422-0","url":null,"abstract":"<p><p>Colorectal mixed neuroendocrine-non-neuroendocrine neoplasms (MiNENs) are rare and aggressive tumors in which accurate preoperative diagnosis remains difficult because of marked intratumoral heterogeneity. A 75-year-old man presented with locally advanced rectal cancer with inguinal lymph node metastasis. Routine biopsy demonstrated moderately to poorly differentiated adenocarcinoma, while retrospective immunohistochemical analysis revealed focal neuroendocrine differentiation insufficient for a diagnosis of MiNEN. Initial systemic chemotherapy with FOLFOXIRI plus bevacizumab was administered for metastatic rectal adenocarcinoma, followed by chemoradiotherapy, and radical surgery was performed after a partial response. Histopathological examination of the resected specimen revealed composite-type MiNEN composed of poorly differentiated adenocarcinoma and large-cell neuroendocrine carcinoma (NEC). The NEC component showed marked lymphovascular invasion and a Ki-67 index exceeding 90%, indicating highly aggressive biological behavior. Multiple liver metastases developed one month after surgery, and postoperative chemotherapy with carboplatin plus etoposide was initiated targeting the NEC component. The patient died of disease 17 months after surgery. This case highlights the diagnostic challenges and therapeutic dilemmas associated with preoperative management of colorectal MiNEN, particularly in patients with locally advanced rectal cancer requiring multidisciplinary management. Comprehensive pathological assessment of the resected specimen remains essential for recognizing the biologically dominant component and optimizing subsequent therapeutic strategy.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789075","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
Autoimmune hepatitis with negative antinuclear antibody and normal early-phase IgG: diagnosis supported by histology, IgG dynamics, and steroid responsiveness. 抗核抗体阴性和早期IgG正常的自身免疫性肝炎:由组织学、IgG动力学和类固醇反应性支持的诊断。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-21 DOI: 10.1007/s12328-026-02428-8
Miyu Kawaguchi, Chihiro Tarumi, Akira Nishio, Tairyu Sato, Koki Yamada, Shogo Nagahama, Yuki Tokuda, Nobuyuki Tatsumi, Yasuyuki Yoshida, Akira Kaneko
{"title":"Autoimmune hepatitis with negative antinuclear antibody and normal early-phase IgG: diagnosis supported by histology, IgG dynamics, and steroid responsiveness.","authors":"Miyu Kawaguchi, Chihiro Tarumi, Akira Nishio, Tairyu Sato, Koki Yamada, Shogo Nagahama, Yuki Tokuda, Nobuyuki Tatsumi, Yasuyuki Yoshida, Akira Kaneko","doi":"10.1007/s12328-026-02428-8","DOIUrl":"https://doi.org/10.1007/s12328-026-02428-8","url":null,"abstract":"<p><p>Autoimmune hepatitis (AIH) with negative anti-nuclear antibody (ANA) has been reported to frequently exhibit acute clinical and histological features. We herein report a case of asymptomatic AIH with negative ANA, normal early-phase immunoglobulin G (IgG) levels, and chronic histological features. A 49-year-old asymptomatic female was found to have elevated liver enzymes during a routine health check. Liver biopsy demonstrated portal-predominant lymphoplasmacytic infiltrates with interface hepatitis, compatible with chronic AIH. Despite compatible histology, the simplified criteria yielded \"unlikely\" (score 3), and the revised International Autoimmune Hepatitis Group score \"probable\" (score 14) due to absent serology. However, the patient met the Japanese guidelines for \"atypical AIH\" based on histology and exclusion of other causes. Consequently, corticosteroid therapy was initiated. Notably, a rapid biochemical response and a delayed IgG elevation at treatment onset confirmed \"typical AIH\" by Japanese criteria, whereas the international scores remained non-definitive. This case highlights that AIH should not be excluded solely because ANA is negative and IgG levels are initially normal. Histological assessment, exclusion of alternative etiologies, monitoring IgG dynamics, and therapeutic response remain essential for establishing the diagnosis.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789098","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
Pancreatic metastasis from a malignant phyllodes tumor of the breast: a case report. 乳腺恶性叶状瘤胰腺转移1例。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-19 DOI: 10.1007/s12328-026-02426-w
Takuya Kobayashi, Gensho Tanke, Katsushi Takaori, Soichiro Yamamura, Soichiro Nagao, Masaya Wada, Satoko Inoue, Daisuke Yamashita, Shigeo Hara, Naoki Kanda
{"title":"Pancreatic metastasis from a malignant phyllodes tumor of the breast: a case report.","authors":"Takuya Kobayashi, Gensho Tanke, Katsushi Takaori, Soichiro Yamamura, Soichiro Nagao, Masaya Wada, Satoko Inoue, Daisuke Yamashita, Shigeo Hara, Naoki Kanda","doi":"10.1007/s12328-026-02426-w","DOIUrl":"https://doi.org/10.1007/s12328-026-02426-w","url":null,"abstract":"<p><p>Herein, we report a rare case of pancreatic metastasis originating from a malignant phyllodes tumor of the breast. A 45-year-old woman initially underwent a partial mastectomy for malignant phyllodes tumor of the left breast, followed by a total mastectomy for local recurrence. Six years later, the patient presented with abdominal pain. Computed tomography revealed a heterogeneous mass with cystic degeneration in the pancreatic tail, morphologically resembling the previously resected breast lesions. Based on the patient's history and imaging findings, pancreatic metastasis from malignant phyllodes tumor was suspected. Endoscopic ultrasound-guided fine-needle aspiration of the solid component was performed, and histopathological examination revealed a sheet-like proliferation of atypical cells with spindle-shaped enlarged nuclei within an eosinophilic stroma. Immunohistochemical staining for AE1/3 cytokeratin was negative, consistent with metastatic malignant phyllodes tumor. The patient declined further treatment and died approximately two months after diagnosis.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789057","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
Successful administration of glecaprevir/pibrentasvir via percutaneous endoscopic gastrostomy in a pediatric patient with chronic hepatitis C and spinal muscular atrophy receiving risdiplam. 慢性丙型肝炎和脊髓性肌萎缩的儿童患者接受利西泮治疗,经皮内镜胃造口术成功给药gleaprevir /pibrentasvir。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-18 DOI: 10.1007/s12328-026-02427-9
Marta Carfagna, Annalisa Carciofi, Alessandra Palpacelli, Emanuela Andresciani, Angela Maria Felicita Garzone, Giovanni Pieroni, Daniele Campioni, Federica Zallocco
{"title":"Successful administration of glecaprevir/pibrentasvir via percutaneous endoscopic gastrostomy in a pediatric patient with chronic hepatitis C and spinal muscular atrophy receiving risdiplam.","authors":"Marta Carfagna, Annalisa Carciofi, Alessandra Palpacelli, Emanuela Andresciani, Angela Maria Felicita Garzone, Giovanni Pieroni, Daniele Campioni, Federica Zallocco","doi":"10.1007/s12328-026-02427-9","DOIUrl":"https://doi.org/10.1007/s12328-026-02427-9","url":null,"abstract":"<p><p>Glecaprevir/Pibrentasvir (GLE/PIB) is an interferon-free direct-acting antiviral (DAA) regimen indicated for the treatment of chronic hepatitis C virus (HCV) infection. However, data on the pharmacokinetics and stability of crushed or split tablets are lacking, complicating administration in patients with dysphagia requiring percutaneous endoscopic gastrostomy (PEG). Additionally, no published studies have evaluated the safety and efficacy of DAAs in combination with Risdiplam, the first oral therapy developed for spinal muscular atrophy (SMA). We report a case of a 14-year-old dysphagic patient with SMA, receiving Risdiplam, who was successfully treated with crushed GLE/PIB administrated via PEG. The patient achieved a sustained virologic response (SVR) 12 weeks after the end of therapy, without significant adverse effects, and no drug interactions were observed during the course of treatment.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789080","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
Alpha-fetoprotein elevation in an asymptomatic young adult as a diagnostic clue to colorectal adenocarcinoma with enteroblastic differentiation. 无症状青年成人甲胎蛋白升高作为结直肠腺癌伴肠母细胞分化的诊断线索。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-14 DOI: 10.1007/s12328-026-02424-y
Nobuyasu Ikai, Makoto Takenouchi, Takayuki Shimpoh, Hiyo Obikane
{"title":"Alpha-fetoprotein elevation in an asymptomatic young adult as a diagnostic clue to colorectal adenocarcinoma with enteroblastic differentiation.","authors":"Nobuyasu Ikai, Makoto Takenouchi, Takayuki Shimpoh, Hiyo Obikane","doi":"10.1007/s12328-026-02424-y","DOIUrl":"https://doi.org/10.1007/s12328-026-02424-y","url":null,"abstract":"<p><p>Colorectal adenocarcinoma with enteroblastic differentiation (CAED) is a rare and aggressive histological subtype of colorectal adenocarcinoma characterized by the expression of enteroblastic markers, including alpha-fetoprotein (AFP), glypican-3, and spalt-like transcription factor 4 (SALL4). CAED typically affects older adults and is often diagnosed at an advanced stage. We report a rare case of AFP-producing CAED in a 29-year-old asymptomatic man whose markedly elevated serum AFP level served as a diagnostic clue. After elevated serum AFP was incidentally detected during a routine medical examination at a local clinic, markedly elevated serum AFP was confirmed at his initial visit to our hospital. Hepatocellular carcinoma and germ cell tumors were excluded by laboratory and imaging studies. Colonoscopy identified a transverse colon tumor, and the patient underwent curative resection. Histopathological examination demonstrated CAED with clear cytoplasm and positivity for AFP, SALL4, and glypican-3, confirming expression of all three enteroblastic markers. The pathological stage was pT3N2b, Stage IIIC. Serum AFP normalized after surgery, before the initiation of adjuvant chemotherapy, and the patient remains free of recurrence 12 months after surgery. This case highlights markedly elevated serum AFP as a potential diagnostic clue that may facilitate the early recognition of CAED, even in asymptomatic young adults.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148757475","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
Verrucous carcinoma diagnosed via surgical resection in a patient with recurrent esophageal obstruction: a rare case report with 12 year follow-up. 复发性食道梗阻经手术诊断为疣状癌1例:罕见随访12年。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-14 DOI: 10.1007/s12328-026-02425-x
Katsushi Takaori, Hiroyoshi Iwagami, Hisakazu Matsumoto
{"title":"Verrucous carcinoma diagnosed via surgical resection in a patient with recurrent esophageal obstruction: a rare case report with 12 year follow-up.","authors":"Katsushi Takaori, Hiroyoshi Iwagami, Hisakazu Matsumoto","doi":"10.1007/s12328-026-02425-x","DOIUrl":"https://doi.org/10.1007/s12328-026-02425-x","url":null,"abstract":"<p><p>Verrucous carcinoma is an extremely rare subtype of esophageal cancer, with only approximately 60 previously reported cases. Its marked surface keratinization often makes a definitive endoscopic diagnosis challenging. We present a case of esophageal verrucous carcinoma that had been managed as refractory esophageal candidiasis for 12 years, with no definitive diagnosis despite repeated antifungal therapy and multiple biopsies. The lesion was ultimately treated by surgical resection, and the diagnosis of verrucous carcinoma was confirmed based on examination of the resected specimen. This case highlights the need to consider verrucous carcinoma as a differential diagnosis in patients with long-standing esophageal candidiasis.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763198","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
Complete response to Nivolumab-based chemotherapy in a case of advanced gastric cancer with multiple immune-related adverse events. 伴有多种免疫相关不良事件的晚期胃癌患者对纳武单抗化疗完全缓解1例
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-01 Epub Date: 2026-04-27 DOI: 10.1007/s12328-026-02336-x
Kazuto Takahashi, Hidetaka Matsuda, Yosuke Murata, Yu Akazawa, Tomoko Tanaka, Takuto Nosaka, Tatsushi Naito, Masahiro Otani, Yoshiaki Imamura, Yasunari Nakamoto
{"title":"Complete response to Nivolumab-based chemotherapy in a case of advanced gastric cancer with multiple immune-related adverse events.","authors":"Kazuto Takahashi, Hidetaka Matsuda, Yosuke Murata, Yu Akazawa, Tomoko Tanaka, Takuto Nosaka, Tatsushi Naito, Masahiro Otani, Yoshiaki Imamura, Yasunari Nakamoto","doi":"10.1007/s12328-026-02336-x","DOIUrl":"10.1007/s12328-026-02336-x","url":null,"abstract":"","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"751-756"},"PeriodicalIF":0.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13424544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epstein-Barr virus-associated smooth muscle tumor of the liver after umbilical cord blood transplantation for acute myeloid leukemia. 急性髓系白血病脐带血移植后肝脏发生Epstein-Barr病毒相关平滑肌肿瘤
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-01 Epub Date: 2026-04-27 DOI: 10.1007/s12328-026-02344-x
Etsuko Hisanaga, Masazumi Koike, Takaaki Sano, Yuka Yoshida, Hideaki Yokoo
{"title":"Epstein-Barr virus-associated smooth muscle tumor of the liver after umbilical cord blood transplantation for acute myeloid leukemia.","authors":"Etsuko Hisanaga, Masazumi Koike, Takaaki Sano, Yuka Yoshida, Hideaki Yokoo","doi":"10.1007/s12328-026-02344-x","DOIUrl":"10.1007/s12328-026-02344-x","url":null,"abstract":"","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"887-893"},"PeriodicalIF":0.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764261","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
Over-the-scope clip closure for penetrating duodenal injury after cryotherapy for renal cell carcinoma. 肾细胞癌冷冻治疗后穿透性十二指肠损伤的镜外夹闭合。
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-01 Epub Date: 2026-04-27 DOI: 10.1007/s12328-026-02348-7
Taku Kano, Naoto Iwai, Osamu Dohi, Hayato Fukui, Ryohei Obata, Tomoki Uehara, Junki Yumoto, Hiroki Mukai, Tomoko Ochiai, Hideyuki Konishi
{"title":"Over-the-scope clip closure for penetrating duodenal injury after cryotherapy for renal cell carcinoma.","authors":"Taku Kano, Naoto Iwai, Osamu Dohi, Hayato Fukui, Ryohei Obata, Tomoki Uehara, Junki Yumoto, Hiroki Mukai, Tomoko Ochiai, Hideyuki Konishi","doi":"10.1007/s12328-026-02348-7","DOIUrl":"10.1007/s12328-026-02348-7","url":null,"abstract":"<p><p>Gastrointestinal injury is a rare complication of renal cryoablation. In this report, we present a case of penetrating duodenal injury following renal cryoablation that was successfully managed with over-the-scope clip closure. A 92-year-old male patient was referred to our hospital after sustaining a penetrating duodenal injury caused by percutaneous cryotherapy for renal cell carcinoma. The patient had undergone computed tomography-guided percutaneous cryotherapy for right renal cell carcinoma 1 month previously. Follow-up computed tomography suggested a duodenal injury, although no abdominal symptoms were evident. Esophagogastroduodenoscopy revealed a full-thickness duodenal defect. He underwent endoscopic suturing for the duodenal injury using an over-the-scope clip system. The patient's clinical course following treatment was uneventful. Gastrointestinal injury can be a rare complication of cryotherapy for renal cell carcinoma, and this case suggests the potential utility of the over-the-scope clip system for the complete closure of a penetrating duodenal injury after renal cryoablation.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"814-816"},"PeriodicalIF":0.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764313","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
Paradoxical hyperprogressive disease in MSI-high intrahepatic cholangiocarcinoma treated with pembrolizumab. 派姆单抗治疗msi高肝内胆管癌的矛盾性高进行性疾病
IF 0.8
Clinical Journal of Gastroenterology Pub Date : 2026-08-01 Epub Date: 2026-06-14 DOI: 10.1007/s12328-026-02373-6
Takayuki Tanaka, Yorihisa Sumida, Takahiro Ikeda, Akiko Fukuda, Makoto Hisanaga, Kohki Wakata, Masato Araki, Hiroko Hayashi, Kosuke Nakamura, Masaaki Hidaka
{"title":"Paradoxical hyperprogressive disease in MSI-high intrahepatic cholangiocarcinoma treated with pembrolizumab.","authors":"Takayuki Tanaka, Yorihisa Sumida, Takahiro Ikeda, Akiko Fukuda, Makoto Hisanaga, Kohki Wakata, Masato Araki, Hiroko Hayashi, Kosuke Nakamura, Masaaki Hidaka","doi":"10.1007/s12328-026-02373-6","DOIUrl":"10.1007/s12328-026-02373-6","url":null,"abstract":"<p><strong>Background: </strong>Cholangiocarcinoma carries a poor prognosis, and surgical resection remains the only curative option. Microsatellite instability-high (MSI-H) is a rare molecular subtype in intrahepatic cholangiocarcinoma (ICC). Although immune checkpoint inhibitors (ICIs) are effective in MSI-H malignancies, responses are variable. We report a rare case of MSI-H ICC that developed hyperprogressive disease (HPD) following pembrolizumab.</p><p><strong>Case presentation: </strong>An 81-year-old man with a history of endoscopic submucosal dissection for esophageal cancer underwent surveillance computed tomography (CT), which revealed a liver mass with intrahepatic bile duct dilation. Tumor markers were elevated (CA19-9: 214.9 U/mL). Suspecting ICC, liver resection was performed, achieving R0 resection. However, recurrence in the liver and hilar lymph nodes occurred within months. Systemic chemotherapy was ineffective. Genomic profiling (FoundationOne® CDx) revealed MSI-H, and pembrolizumab was initiated. After two cycles, rapid tumor progression was observed, with a ≥ twofold increase in tumor growth rate, consistent with HPD, along with new liver, bone, and peritoneal metastases. The patient died shortly thereafter.</p><p><strong>Conclusion: </strong>This case highlights the paradoxical response to ICIs in ICC, demonstrating that MSI-H status does not preclude HPD. Further investigation of the tumor immune microenvironment is warranted.</p>","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":"997-1002"},"PeriodicalIF":0.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148249345","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
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