Drug-induced interstitial lung disease (DILD) is an adverse event associated with the use of various anticancer drugs. Although DILD is rare, it is a serious complication that can lead to treatment interruption and, in some cases, life-threatening outcomes. The early detection of DILD requires careful monitoring of subjective symptoms, regular computed tomography (CT) scans, and biomarker assessments. We present two cases in which electronic patient-reported monitoring by a pharmacist, utilizing an electronic patient-reported outcome (ePRO) application, enabled the early detection of DILD in patients with breast cancer undergoing anthracycline-based adjuvant therapy and treatment for recurrence with everolimus (EVL) and exemestane (EXE). In the first case, a woman in her 50 s with early stage breast cancer received dose-dense epirubicin and cyclophosphamide (EC) therapy as adjuvant treatment following surgery. On day 14 of the second cycle, the ePRO flagged cough and fever symptoms. The following day, the patient's fever subsided, and chest X-rays showed no abnormal findings. The third cycle of dose-dense EC therapy was discontinued, and the patient was followed up. Monitoring with ePROs was continued, and on day 18, the patient developed a fever again and experienced worsening dyspnea, prompting a medical consultation. Chest CT confirmed the diagnosis of DILD, and steroid pulse therapy was initiated. In the second case, a woman in her 60 s with recurrent breast cancer underwent EVL + EXE. Between days 86 and 89, ePROs identified fever, fatigue, and cough, prompting the patient to consult a physician. A chest CT scan revealed grade 1 DILD, which led to the discontinuation of EVL therapy. These cases suggest that the application of ePRO is valuable for the early detection of DILD, potentially improving patient outcomes by allowing timely intervention.
{"title":"Early detection of drug-induced interstitial lung disease using an electronic patient-reported outcome system: a report of two cases.","authors":"Yuki Takei, Akiko Matsumoto, Atsuhumi Nomoto, Mizuki Kawashima, Yuko Miyake, Arisa Kawakami, Tadamitsu Shima, Isao Teshima, Natsumi Nomoto, Yoshiharu Mitsunaga, Tamaki Watanabe, Yukie Nagase, Nobuhiro Yasuno, Hiromitsu Jinno","doi":"10.1007/s13691-025-00792-9","DOIUrl":"https://doi.org/10.1007/s13691-025-00792-9","url":null,"abstract":"<p><p>Drug-induced interstitial lung disease (DILD) is an adverse event associated with the use of various anticancer drugs. Although DILD is rare, it is a serious complication that can lead to treatment interruption and, in some cases, life-threatening outcomes. The early detection of DILD requires careful monitoring of subjective symptoms, regular computed tomography (CT) scans, and biomarker assessments. We present two cases in which electronic patient-reported monitoring by a pharmacist, utilizing an electronic patient-reported outcome (ePRO) application, enabled the early detection of DILD in patients with breast cancer undergoing anthracycline-based adjuvant therapy and treatment for recurrence with everolimus (EVL) and exemestane (EXE). In the first case, a woman in her 50 s with early stage breast cancer received dose-dense epirubicin and cyclophosphamide (EC) therapy as adjuvant treatment following surgery. On day 14 of the second cycle, the ePRO flagged cough and fever symptoms. The following day, the patient's fever subsided, and chest X-rays showed no abnormal findings. The third cycle of dose-dense EC therapy was discontinued, and the patient was followed up. Monitoring with ePROs was continued, and on day 18, the patient developed a fever again and experienced worsening dyspnea, prompting a medical consultation. Chest CT confirmed the diagnosis of DILD, and steroid pulse therapy was initiated. In the second case, a woman in her 60 s with recurrent breast cancer underwent EVL + EXE. Between days 86 and 89, ePROs identified fever, fatigue, and cough, prompting the patient to consult a physician. A chest CT scan revealed grade 1 DILD, which led to the discontinuation of EVL therapy. These cases suggest that the application of ePRO is valuable for the early detection of DILD, potentially improving patient outcomes by allowing timely intervention.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"433-439"},"PeriodicalIF":0.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756581","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}
Immune checkpoint inhibitors can cause immune-related adverse events, with neurologic manifestations such as myasthenia gravis (MG) and myositis predominantly reported with PD-1 inhibitors, while cases linked to PD-L1 inhibitors remain rare. An 84-year-old man with hepatocellular carcinoma developed severe MG and myositis after atezolizumab treatment. Despite intensive therapy, including corticosteroids, plasma exchange, and intravenous immunoglobulin, his condition worsened, and he died. MG in cancer patients poses treatment challenges due to tumor progression and functional decline. Given the limited reports on atezolizumab-induced MG, further case accumulation is essential to improve understanding of its clinical course and optimize management strategies.
{"title":"Atezolizumab-induced myasthenia gravis and myositis: a fatal case report and review of the literature.","authors":"Yuya Kobayashi, Kiyoshiro Nagamatsu, Yusaku Shimizu, Ataru Nakayama, Yoshiki Sekijima","doi":"10.1007/s13691-025-00791-w","DOIUrl":"https://doi.org/10.1007/s13691-025-00791-w","url":null,"abstract":"<p><p>Immune checkpoint inhibitors can cause immune-related adverse events, with neurologic manifestations such as myasthenia gravis (MG) and myositis predominantly reported with PD-1 inhibitors, while cases linked to PD-L1 inhibitors remain rare. An 84-year-old man with hepatocellular carcinoma developed severe MG and myositis after atezolizumab treatment. Despite intensive therapy, including corticosteroids, plasma exchange, and intravenous immunoglobulin, his condition worsened, and he died. MG in cancer patients poses treatment challenges due to tumor progression and functional decline. Given the limited reports on atezolizumab-induced MG, further case accumulation is essential to improve understanding of its clinical course and optimize management strategies.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"428-432"},"PeriodicalIF":0.5,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756665","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}
ALK-negative primary anaplastic large cell lymphoma (ALCL) of the small intestine is exceptionally rare and presents significant diagnostic and therapeutic challenges. Characterized by large-sized neoplastic lymphoid cells with scant cytoplasm and pleomorphic nuclei, its clinical presentation is often nonspecific, mimicking infections or inflammatory disorders. We present a rare case of ALK-negative primary ALCL of the small intestine in a 35-year-old male who presented with fever, abdominal pain, and significant weight loss. This case highlights the need for heightened clinical suspicion, a comprehensive histopathological and immunophenotypic approach, and optimal management strategies for this aggressive entity.
{"title":"Primary ALK-negative ALCL of the small intestine: a rare case report with review of literature.","authors":"Tanisha Singla, Nilay Nishith, Rahul Raj, Aishwarya Sharma, Puneet Kaur Somal, Ravikiran Pawar, Sankalp Sancheti, Simran Kalra","doi":"10.1007/s13691-025-00787-6","DOIUrl":"10.1007/s13691-025-00787-6","url":null,"abstract":"<p><p>ALK-negative primary anaplastic large cell lymphoma (ALCL) of the small intestine is exceptionally rare and presents significant diagnostic and therapeutic challenges. Characterized by large-sized neoplastic lymphoid cells with scant cytoplasm and pleomorphic nuclei, its clinical presentation is often nonspecific, mimicking infections or inflammatory disorders. We present a rare case of ALK-negative primary ALCL of the small intestine in a 35-year-old male who presented with fever, abdominal pain, and significant weight loss. This case highlights the need for heightened clinical suspicion, a comprehensive histopathological and immunophenotypic approach, and optimal management strategies for this aggressive entity.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"412-420"},"PeriodicalIF":0.5,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756651","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}
Rectal gastrointestinal stromal tumors (GISTs) are rare, accounting for approximately 5% of all GISTs and 0.1% of all rectal malignancies. Radical resection without capsule violation is the standard treatment for localized GISTs. However, surgical resection of large rectal GISTs poses challenges because of the narrow pelvic anatomy and the need to preserve excretory function. Based on KIT mutation status, neoadjuvant imatinib therapy facilitates tumor shrinkage and improves surgical outcomes. A 72-year-old man presented with dyschezia and hematochezia. Colonoscopy revealed a submucosal rectal tumor measuring 3 cm from the anal verge, which was diagnosed as a GIST based on biopsy findings (c-kit and DOG1 positive). Imaging studies confirmed the presence of a 5-cm tumor with significant 18F-FDG uptake. KIT mutation analysis revealed a rare exon 13 K642E mutation associated with imatinib sensitivity. Neoadjuvant imatinib therapy was administered for four months, which led to tumor shrinkage to 2.5 cm in diameter. Transanal minimally invasive surgery (TAMIS) was performed with curative intent, utilizing ArtiSential articulated forceps. Full-thickness resection was achieved without capsule violation. The patient had no postoperative complications and had retained full anal function. This case highlights the utility of a multimodal approach combining neoadjuvant imatinib therapy and TAMIS to manage large rectal GISTs. TAMIS facilitated complete tumor removal while preserving excretory function and avoiding extensive surgeries, such as total mesorectal excision. Notably, this is the first report of ArtiSential articulated forceps utilized in TAMIS, demonstrating their innovative potential in enhancing surgical precision and outcomes in challenging pelvic procedures.
Supplementary information: The online version contains supplementary material available at 10.1007/s13691-025-00786-7.
{"title":"Transanal minimally invasive surgery for rectal gastrointestinal stromal tumor using articulated forceps after neoadjuvant chemotherapy with imatinib mesylate.","authors":"Hideyuki Masui, Yoshiro Itatani, Ryosuke Okamura, Michio Okamoto, Atsushi Yamada, Yusuke Sakamoto, Nobuaki Hoshino, Koya Hida, Kazutaka Obama","doi":"10.1007/s13691-025-00786-7","DOIUrl":"https://doi.org/10.1007/s13691-025-00786-7","url":null,"abstract":"<p><p>Rectal gastrointestinal stromal tumors (GISTs) are rare, accounting for approximately 5% of all GISTs and 0.1% of all rectal malignancies. Radical resection without capsule violation is the standard treatment for localized GISTs. However, surgical resection of large rectal GISTs poses challenges because of the narrow pelvic anatomy and the need to preserve excretory function. Based on KIT mutation status, neoadjuvant imatinib therapy facilitates tumor shrinkage and improves surgical outcomes. A 72-year-old man presented with dyschezia and hematochezia. Colonoscopy revealed a submucosal rectal tumor measuring 3 cm from the anal verge, which was diagnosed as a GIST based on biopsy findings (c-kit and DOG1 positive). Imaging studies confirmed the presence of a 5-cm tumor with significant <sup>18</sup>F-FDG uptake. KIT mutation analysis revealed a rare exon 13 K642E mutation associated with imatinib sensitivity. Neoadjuvant imatinib therapy was administered for four months, which led to tumor shrinkage to 2.5 cm in diameter. Transanal minimally invasive surgery (TAMIS) was performed with curative intent, utilizing ArtiSential articulated forceps. Full-thickness resection was achieved without capsule violation. The patient had no postoperative complications and had retained full anal function. This case highlights the utility of a multimodal approach combining neoadjuvant imatinib therapy and TAMIS to manage large rectal GISTs. TAMIS facilitated complete tumor removal while preserving excretory function and avoiding extensive surgeries, such as total mesorectal excision. Notably, this is the first report of ArtiSential articulated forceps utilized in TAMIS, demonstrating their innovative potential in enhancing surgical precision and outcomes in challenging pelvic procedures.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13691-025-00786-7.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"401-406"},"PeriodicalIF":0.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756672","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}
Patients with advanced nodal involvement (cN2 or cN3) in urothelial carcinoma (UC) typically have poor outcomes after radical surgery. Clinical evidence on how to manage these patients following immunotherapy is limited. Major neoadjuvant trials such as KEYNOTE-B15 and NIAGARA excluded patients with multiple or bulky nodal metastases, leaving a significant gap in evidence. We present a case of a 76-year-old man with cT1 bladder cancer, concomitant distal ureteral UC (≤ cT2), and multiple enlarged right pelvic lymph nodes (cN2). After six cycles of enfortumab vedotin plus pembrolizumab (EVP), he achieved a radiologic complete response (CR) and resolution of hydronephrosis. He then underwent robot-assisted right nephroureterectomy with extended pelvic lymph node dissection using the da Vinci Xi surgical system. Pathology revealed no residual cancer in either the primary site or lymph nodes (ypT0, ypN0), with marked fibrosis suggesting a strong treatment response. There were no surgical complications, and systemic therapy was stopped after surgery. To our knowledge, this is the first reported case of pathologic complete response following EVP and robotic nephroureterectomy in a patient with node-positive UC. This case supports the potential role of surgery in select patients with excellent responses to systemic therapy who were initially considered unresectable.
Supplementary information: The online version contains supplementary material available at 10.1007/s13691-025-00785-8.
{"title":"Pathologic complete response to enfortumab vedotin plus pembrolizumab in node-positive urothelial carcinoma: a case report.","authors":"Takuto Hara, Eiki Inoue, Naoto Wakita, Takaaki Nakanishi, Kotaro Suzuki, Naoki Matsuyama, Taisuke Tobe, Hideto Ueki, Koji Chiba, Jun Teishima, Hideaki Miyake","doi":"10.1007/s13691-025-00785-8","DOIUrl":"https://doi.org/10.1007/s13691-025-00785-8","url":null,"abstract":"<p><p>Patients with advanced nodal involvement (cN2 or cN3) in urothelial carcinoma (UC) typically have poor outcomes after radical surgery. Clinical evidence on how to manage these patients following immunotherapy is limited. Major neoadjuvant trials such as KEYNOTE-B15 and NIAGARA excluded patients with multiple or bulky nodal metastases, leaving a significant gap in evidence. We present a case of a 76-year-old man with cT1 bladder cancer, concomitant distal ureteral UC (≤ cT2), and multiple enlarged right pelvic lymph nodes (cN2). After six cycles of enfortumab vedotin plus pembrolizumab (EVP), he achieved a radiologic complete response (CR) and resolution of hydronephrosis. He then underwent robot-assisted right nephroureterectomy with extended pelvic lymph node dissection using the da Vinci Xi surgical system. Pathology revealed no residual cancer in either the primary site or lymph nodes (ypT0, ypN0), with marked fibrosis suggesting a strong treatment response. There were no surgical complications, and systemic therapy was stopped after surgery. To our knowledge, this is the first reported case of pathologic complete response following EVP and robotic nephroureterectomy in a patient with node-positive UC. This case supports the potential role of surgery in select patients with excellent responses to systemic therapy who were initially considered unresectable.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13691-025-00785-8.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"407-411"},"PeriodicalIF":0.5,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756628","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}
Pub Date : 2025-06-30eCollection Date: 2025-10-01DOI: 10.1007/s13691-025-00783-w
Yumi Kokubo, Ryo Ashida, Peter J K Tokuda, Takamasa Mitsuyoshi, Toshiyuki Imagumbai, Masaki Kokubo
Fungating lesions in advanced breast cancer often affect the quality of life. Fractionated radiation therapy is the preferred treatment over single-fraction radiation therapy because of the relatively favorable prognosis for breast cancer. Therefore, limited literature is available regarding the effectiveness of short-course radiation therapy, especially 8-Gy single-fraction radiation therapy. Herein, we describe the case of an 85-year-old patient diagnosed with locally advanced breast cancer for several years who underwent two sessions of 8-Gy single-fraction radiation therapy performed approximately one year apart. This therapy resulted in prolonged control of bleeding without severe side effects. The patient experienced bleeding from a fungating lesion and was referred to the Department of Radiation Oncology for palliative therapy to relieve the bleeding. Owing to limited support from her family and nursing care workers, she faced transportation challenges making frequent hospital visits infeasible, so 8-Gy single-fraction radiation therapy was performed. Radiation therapy was well tolerated, and hemostasis was achieved. Eleven months later, tumor regrowth and recurrent bleeding occurred, which necessitated another 8-Gy therapy. Re-irradiation was tolerated with only mild dermatitis noted, and the symptoms were relieved. Twelve months after re-irradiation, the breast cancer remained controlled, with no further bleeding. These findings indicate that 8-Gy single-fraction radiation therapy effectively controls bleeding from fungating breast cancer, and hemostasis may last longer than previously reported. Moreover, this method may be a valuable way to provide symptomatic relief, especially for elderly patients needing nursing care, even when their prognosis is relatively good.
{"title":"A case of long-term relief from bleeding due to fungating breast cancer in an elderly patient after 8-Gy single-fraction radiation therapy.","authors":"Yumi Kokubo, Ryo Ashida, Peter J K Tokuda, Takamasa Mitsuyoshi, Toshiyuki Imagumbai, Masaki Kokubo","doi":"10.1007/s13691-025-00783-w","DOIUrl":"10.1007/s13691-025-00783-w","url":null,"abstract":"<p><p>Fungating lesions in advanced breast cancer often affect the quality of life. Fractionated radiation therapy is the preferred treatment over single-fraction radiation therapy because of the relatively favorable prognosis for breast cancer. Therefore, limited literature is available regarding the effectiveness of short-course radiation therapy, especially 8-Gy single-fraction radiation therapy. Herein, we describe the case of an 85-year-old patient diagnosed with locally advanced breast cancer for several years who underwent two sessions of 8-Gy single-fraction radiation therapy performed approximately one year apart. This therapy resulted in prolonged control of bleeding without severe side effects. The patient experienced bleeding from a fungating lesion and was referred to the Department of Radiation Oncology for palliative therapy to relieve the bleeding. Owing to limited support from her family and nursing care workers, she faced transportation challenges making frequent hospital visits infeasible, so 8-Gy single-fraction radiation therapy was performed. Radiation therapy was well tolerated, and hemostasis was achieved. Eleven months later, tumor regrowth and recurrent bleeding occurred, which necessitated another 8-Gy therapy. Re-irradiation was tolerated with only mild dermatitis noted, and the symptoms were relieved. Twelve months after re-irradiation, the breast cancer remained controlled, with no further bleeding. These findings indicate that 8-Gy single-fraction radiation therapy effectively controls bleeding from fungating breast cancer, and hemostasis may last longer than previously reported. Moreover, this method may be a valuable way to provide symptomatic relief, especially for elderly patients needing nursing care, even when their prognosis is relatively good.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"396-400"},"PeriodicalIF":0.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756341","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}
Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder primarily caused by pathogenic mutations in the adenomatous polyposis coli (APC) gene. Some FAP cases are clinically diagnosed even in the absence of a family history. Both the NCCN Clinical Practice Guidelines (Version 3.2024) and the Japanese Society for Cancer of the Colon and Rectum Guidelines for the Clinical Practice of Hereditary Colorectal Cancer Guidelines (2020) recommend genetic testing for FAP cases without a family history; however, its implementation is limited due to ethical and economic considerations. Herein, we report two cases in which genetic testing was performed on patients clinically diagnosed with FAP despite the absence of a family history. Case 1: A 44-year-old woman presented with transverse colon cancer and polyposis, identified using colonoscopy. Despite having no family history of FAP, she was diagnosed with attenuated FAP (AFAP) based on the preoperative findings. The patient underwent laparoscopic total colectomy and ileorectal anastomosis, followed by adjuvant chemotherapy and surgical treatment for the pulmonary metastasis. Genetic panel testing revealed no APC mutation but identified a SMAD9 mutation classified as a variant of uncertain significance. Over a follow-up period exceeding 9 years, the patient showed no recurrence of colorectal cancer or extracolonic manifestations of FAP. Case 2: A 44-year-old woman who had undergone colonoscopy since being diagnosed with polyps at the age of 29 years presented with sigmoid colon cancer and polyposis. Despite having no family history of FAP, she was diagnosed with AFAP based on the preoperative findings. The patient underwent laparoscopic total colectomy with ileostomy, followed by ileostomy closure 6 months later. Genetic testing performed the same year revealed an APC mutation. A CT scan at 1 year and 7 months postoperatively revealed a soft tissue mass suspected to be a desmoid tumor, and the patient is currently being followed up in the outpatient clinic. These cases emphasize the importance of genetic testing in the clinical management of FAP to ensure an accurate diagnosis and differentiation from related syndromes. Although APC mutations are detected in only 20-40% of patients undergoing genetic testing for FAP, APC mutation-negative cases are reported to have a milder phenotype. However, its genetic characteristics remain unclear. The role of SMAD9 mutations is not yet fully understood, but identifying such mutations may deepen our understanding of genetic associations in colorectal polyposis syndromes.
{"title":"Two cases of genetic testing for familial adenomatous polyposis without a family history.","authors":"Yusuke Makutani, Masayoshi Iwamoto, Koji Daito, Tadao Tokoro, Kazuki Ueda, Junichiro Kawamura","doi":"10.1007/s13691-025-00782-x","DOIUrl":"https://doi.org/10.1007/s13691-025-00782-x","url":null,"abstract":"<p><p>Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder primarily caused by pathogenic mutations in the adenomatous polyposis coli (<i>APC</i>) gene. Some FAP cases are clinically diagnosed even in the absence of a family history. Both the NCCN Clinical Practice Guidelines (Version 3.2024) and the Japanese Society for Cancer of the Colon and Rectum Guidelines for the Clinical Practice of Hereditary Colorectal Cancer Guidelines (2020) recommend genetic testing for FAP cases without a family history; however, its implementation is limited due to ethical and economic considerations. Herein, we report two cases in which genetic testing was performed on patients clinically diagnosed with FAP despite the absence of a family history. Case 1: A 44-year-old woman presented with transverse colon cancer and polyposis, identified using colonoscopy. Despite having no family history of FAP, she was diagnosed with attenuated FAP (AFAP) based on the preoperative findings. The patient underwent laparoscopic total colectomy and ileorectal anastomosis, followed by adjuvant chemotherapy and surgical treatment for the pulmonary metastasis. Genetic panel testing revealed no <i>APC</i> mutation but identified a <i>SMAD9</i> mutation classified as a variant of uncertain significance. Over a follow-up period exceeding 9 years, the patient showed no recurrence of colorectal cancer or extracolonic manifestations of FAP. Case 2: A 44-year-old woman who had undergone colonoscopy since being diagnosed with polyps at the age of 29 years presented with sigmoid colon cancer and polyposis. Despite having no family history of FAP, she was diagnosed with AFAP based on the preoperative findings. The patient underwent laparoscopic total colectomy with ileostomy, followed by ileostomy closure 6 months later. Genetic testing performed the same year revealed an <i>APC</i> mutation. A CT scan at 1 year and 7 months postoperatively revealed a soft tissue mass suspected to be a desmoid tumor, and the patient is currently being followed up in the outpatient clinic. These cases emphasize the importance of genetic testing in the clinical management of FAP to ensure an accurate diagnosis and differentiation from related syndromes. Although <i>APC</i> mutations are detected in only 20-40% of patients undergoing genetic testing for FAP, <i>APC</i> mutation-negative cases are reported to have a milder phenotype. However, its genetic characteristics remain unclear. The role of <i>SMAD9</i> mutations is not yet fully understood, but identifying such mutations may deepen our understanding of genetic associations in colorectal polyposis syndromes.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"387-395"},"PeriodicalIF":0.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756647","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}
The recent studies with comprehensive genomic analyses demonstrated that a certain proportion of patients with pulmonary large-cell neuroendocrine carcinoma (LCNEC) harbors some driver gene alterations. We herein present a case of 79-year-old man with Kirsten rat sarcoma virus oncogene homologue G12C-mutated pulmonary LCNEC who were treated with chemo-immunotherapy in the first-line setting. Sotorasib which was administered as second-line therapy showed a favorable therapeutic efficacy of partial response. Although sotorasib induced severe hepatobiliary disorder which forced us to terminate the treatment, the antitumor response was sustained for up to 5.6 months which was almost comparable to the therapeutic efficacy reported in pivotal clinical trials. Our case and related literature review suggest that the multiplex genetic mutation-detection assay should be considered for patients with LCNEC. Furthermore, it also suggests that biomarkers which enable us to distinguish patients who are likely to harbor driver gene alterations are required in near future.
{"title":"A favorable antitumor efficacy of sotorasib in a patient with <i>KRAS</i> G12C-mutated pulmonary large-cell neuroendocrine carcinoma.","authors":"Keisuke Nakanishi, Hirokazu Ogino, Kojin Murakami, Yasuyo Saijo, Nobuhito Naito, Rikako Matsumoto, Yutaka Morita, Yuki Tsukazaki, Ryohiko Ozaki, Yohei Yabuki, Noriko Bando, Atsushi Mitsuhashi, Seidai Sato, Masaki Hanibuchi, Yasuhiko Nishioka","doi":"10.1007/s13691-025-00780-z","DOIUrl":"https://doi.org/10.1007/s13691-025-00780-z","url":null,"abstract":"<p><p>The recent studies with comprehensive genomic analyses demonstrated that a certain proportion of patients with pulmonary large-cell neuroendocrine carcinoma (LCNEC) harbors some driver gene alterations. We herein present a case of 79-year-old man with <i>Kirsten rat sarcoma virus oncogene homologue</i> G12C-mutated pulmonary LCNEC who were treated with chemo-immunotherapy in the first-line setting. Sotorasib which was administered as second-line therapy showed a favorable therapeutic efficacy of partial response. Although sotorasib induced severe hepatobiliary disorder which forced us to terminate the treatment, the antitumor response was sustained for up to 5.6 months which was almost comparable to the therapeutic efficacy reported in pivotal clinical trials. Our case and related literature review suggest that the multiplex genetic mutation-detection assay should be considered for patients with LCNEC. Furthermore, it also suggests that biomarkers which enable us to distinguish patients who are likely to harbor driver gene alterations are required in near future.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 4","pages":"374-380"},"PeriodicalIF":0.5,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12696249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756599","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}
Pub Date : 2025-06-24eCollection Date: 2025-07-01DOI: 10.1007/s13691-025-00784-9
Noriomi Matsumura
{"title":"Advancing immunotherapy in oncology.","authors":"Noriomi Matsumura","doi":"10.1007/s13691-025-00784-9","DOIUrl":"https://doi.org/10.1007/s13691-025-00784-9","url":null,"abstract":"","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 3","pages":"189"},"PeriodicalIF":0.5,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583831","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}
Pulmonary epithelial-myoepithelial carcinoma (P-EMC) is a rare subtype of salivary gland tumor that is generally considered a low-grade malignancy and is treated with surgical resection. Here, we report a case of P-EMC treated with definitive chemoradiotherapy. A 68-year-old man developed P-EMC with high-grade features, a Ki-67 labeling index of 60%, and rapidly progressing disease. The patient received concurrent chemoradiotherapy with carboplatin and paclitaxel, which resulted in a significant tumor size reduction. The patient is currently alive 9 months after completing chemoradiotherapy without disease recurrence. This case suggests that platinum-based chemoradiotherapy is a viable therapeutic option for locally advanced, unresectable P-EMCs.
{"title":"Definitive chemoradiotherapy for pulmonary epithelial-myoepithelial carcinoma.","authors":"Keijiro Yamauchi, Masashi Yokoyama, Kayo Ueda, Riiko Komuta, Hidetaka Tanabe, So Takata, Takafumi Yanase, Yuki Hosono, Shingo Satoh, Naoko Morishita, Hideo Mori, Hidekazu Suzuki","doi":"10.1007/s13691-025-00779-6","DOIUrl":"https://doi.org/10.1007/s13691-025-00779-6","url":null,"abstract":"<p><p>Pulmonary epithelial-myoepithelial carcinoma (P-EMC) is a rare subtype of salivary gland tumor that is generally considered a low-grade malignancy and is treated with surgical resection. Here, we report a case of P-EMC treated with definitive chemoradiotherapy. A 68-year-old man developed P-EMC with high-grade features, a Ki-67 labeling index of 60%, and rapidly progressing disease. The patient received concurrent chemoradiotherapy with carboplatin and paclitaxel, which resulted in a significant tumor size reduction. The patient is currently alive 9 months after completing chemoradiotherapy without disease recurrence. This case suggests that platinum-based chemoradiotherapy is a viable therapeutic option for locally advanced, unresectable P-EMCs.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 3","pages":"344-349"},"PeriodicalIF":0.5,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583837","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}