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Early detection of drug-induced interstitial lung disease using an electronic patient-reported outcome system: a report of two cases. 使用电子患者报告结果系统早期检测药物性间质性肺病:两例报告
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-08-01 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00792-9
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

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.

药物性间质性肺疾病(DILD)是一种与使用各种抗癌药物相关的不良事件。虽然DILD很少见,但它是一种严重的并发症,可导致治疗中断,在某些情况下,甚至危及生命。DILD的早期检测需要仔细监测主观症状,定期进行计算机断层扫描(CT)扫描和生物标志物评估。我们报告了两个病例,其中药剂师利用电子患者报告结果(ePRO)应用程序进行电子患者报告监测,使接受蒽环类药物辅助治疗和依维莫司(EVL)和依西美坦(EXE)复发治疗的乳腺癌患者能够早期发现DILD。在第一个病例中,一名50多岁的早期乳腺癌妇女在手术后接受了高剂量的表柔比星和环磷酰胺(EC)治疗作为辅助治疗。在第二个周期的第14天,ePRO显示咳嗽和发烧症状。第二天,患者退烧,胸部x光未见异常。停止第三周期剂量密集EC治疗,并对患者进行随访。继续用ePROs进行监测,第18天,患者再次发烧,呼吸困难加重,促使医生进行了咨询。胸部CT确诊DILD,并开始类固醇脉冲治疗。在第二个病例中,一名60多岁患有复发性乳腺癌的妇女接受了EVL + EXE。在第86天和第89天之间,ePROs发现患者发烧、疲劳和咳嗽,促使患者去看医生。胸部CT扫描显示1级DILD,导致EVL治疗停止。这些病例表明,ePRO的应用对于DILD的早期发现是有价值的,可以通过及时干预来改善患者的预后。
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引用次数: 0
Atezolizumab-induced myasthenia gravis and myositis: a fatal case report and review of the literature. 阿特唑单抗致重症肌无力及肌炎1例死亡报告及文献复习。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-07-31 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00791-w
Yuya Kobayashi, Kiyoshiro Nagamatsu, Yusaku Shimizu, Ataru Nakayama, Yoshiki Sekijima

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.

免疫检查点抑制剂可引起免疫相关不良事件,PD-1抑制剂主要报道重症肌无力(MG)和肌炎等神经系统症状,而与PD-L1抑制剂相关的病例仍然罕见。一名84岁的肝癌患者在阿特唑单抗治疗后出现了严重的MG和肌炎。尽管进行了强化治疗,包括皮质类固醇、血浆置换和静脉注射免疫球蛋白,但他的病情恶化,最终死亡。由于肿瘤进展和功能下降,癌症患者的MG治疗面临挑战。鉴于atezolizumab诱导MG的报道有限,进一步的病例积累对于提高对其临床病程的了解和优化管理策略至关重要。
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引用次数: 0
Primary ALK-negative ALCL of the small intestine: a rare case report with review of literature. 原发性alk阴性小肠ALCL:罕见病例报告并文献复习。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-07-29 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00787-6
Tanisha Singla, Nilay Nishith, Rahul Raj, Aishwarya Sharma, Puneet Kaur Somal, Ravikiran Pawar, Sankalp Sancheti, Simran Kalra

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.

alk阴性的原发性小肠间变性大细胞淋巴瘤(ALCL)是非常罕见的,并提出了重大的诊断和治疗挑战。其特征为大的肿瘤淋巴样细胞,胞质少,细胞核多形性,临床表现通常是非特异性的,类似感染或炎症性疾病。我们报告一例罕见的alk阴性原发性小肠ALCL病例,患者为35岁男性,表现为发热、腹痛和明显体重减轻。该病例强调需要加强临床怀疑,全面的组织病理学和免疫表型方法,以及对这种侵袭性实体的最佳管理策略。
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引用次数: 0
Transanal minimally invasive surgery for rectal gastrointestinal stromal tumor using articulated forceps after neoadjuvant chemotherapy with imatinib mesylate. 甲磺酸伊马替尼新辅助化疗后关节钳经肛门微创治疗直肠胃肠道间质瘤。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-07-24 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00786-7
Hideyuki Masui, Yoshiro Itatani, Ryosuke Okamura, Michio Okamoto, Atsushi Yamada, Yusuke Sakamoto, Nobuaki Hoshino, Koya Hida, Kazutaka Obama

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.

直肠胃肠道间质瘤(gist)是罕见的,约占所有胃肠道间质瘤的5%和直肠恶性肿瘤的0.1%。根治性切除不侵犯包膜是局部gist的标准治疗方法。然而,由于骨盆狭窄的解剖结构和需要保留排泄功能,手术切除大直肠胃肠道间质瘤带来了挑战。基于KIT突变状态,新辅助伊马替尼治疗促进肿瘤缩小,改善手术效果。一名72岁男性,表现为妊高征和便血。结肠镜检查显示直肠粘膜下肿瘤,距肛门边缘3cm,根据活检结果(c-kit和DOG1阳性)诊断为GIST。影像学检查证实存在一个5厘米的肿瘤,伴有明显的18F-FDG摄取。KIT突变分析显示罕见的外显子13 K642E突变与伊马替尼敏感性相关。新辅助伊马替尼治疗4个月,肿瘤缩小至直径2.5 cm。经肛门微创手术(TAMIS)进行治疗的目的,利用艺术铰接钳。全层切除无侵犯包膜。患者无术后并发症,并保留完整的肛门功能。本病例强调了多模式联合新辅助伊马替尼治疗和TAMIS治疗大直肠胃肠道间质瘤的效用。TAMIS有助于肿瘤的完全切除,同时保留排泄功能,避免大面积手术,如全肠系膜切除。值得注意的是,这是在TAMIS中使用的人工关节钳的第一篇报道,展示了他们在提高手术精度和具有挑战性的骨盆手术结果方面的创新潜力。补充信息:在线版本包含补充资料,提供地址为10.1007/s13691-025-00786-7。
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引用次数: 0
Pathologic complete response to enfortumab vedotin plus pembrolizumab in node-positive urothelial carcinoma: a case report. 在淋巴结阳性的尿路上皮癌中,对安可单抗和派姆单抗的病理完全缓解:1例报告。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-07-07 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00785-8
Takuto Hara, Eiki Inoue, Naoto Wakita, Takaaki Nakanishi, Kotaro Suzuki, Naoki Matsuyama, Taisuke Tobe, Hideto Ueki, Koji Chiba, Jun Teishima, Hideaki Miyake

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.

晚期淋巴结受累(cN2或cN3)的尿路上皮癌(UC)患者在根治性手术后通常预后较差。如何处理这些患者免疫治疗后的临床证据是有限的。主要的新辅助试验,如KEYNOTE-B15和NIAGARA排除了多发或大块淋巴结转移的患者,留下了明显的证据空白。我们报告一例76岁男性cT1膀胱癌,同时伴有输尿管远端UC(≤cT2)和右侧盆腔多发肿大淋巴结(cN2)。经过6个周期的维多汀+派姆单抗(EVP)治疗,他获得了放射学完全缓解(CR)和肾积水的解决。然后,他接受了机器人辅助的右侧肾输尿管切除术,并使用达芬奇Xi手术系统进行了扩展盆腔淋巴结清扫。病理显示原发部位或淋巴结(ypT0, ypN0)均未发现残留癌,伴有明显的纤维化,提示治疗反应强烈。无手术并发症,术后停止全身治疗。据我们所知,这是首例报道的EVP和机器人肾输尿管切除术后病理完全缓解的病例,患者为淋巴结阳性UC。本病例支持手术在选择对全身治疗有良好反应的患者中的潜在作用,这些患者最初被认为是不可切除的。补充信息:在线版本包含补充资料,提供地址为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}
引用次数: 0
A case of long-term relief from bleeding due to fungating breast cancer in an elderly patient after 8-Gy single-fraction radiation therapy. 1例老年患者接受8 gy单次放射治疗后真菌性乳腺癌出血的长期缓解。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-30 eCollection Date: 2025-10-01 DOI: 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.

晚期乳腺癌的真菌病变常常影响生活质量。由于乳腺癌的预后相对较好,分次放疗优于单次放疗。因此,关于短期放射治疗,特别是8-Gy单次放射治疗有效性的文献有限。在此,我们描述了一位85岁的被诊断为局部晚期乳腺癌的患者,她接受了两次8-Gy单次放射治疗,间隔大约一年。这种治疗延长了出血的控制,没有严重的副作用。患者因真菌病变出血,被转诊到放射肿瘤科进行姑息治疗以减轻出血。由于家人和护理人员的支持有限,她面临交通困难,无法经常去医院,因此进行了8-Gy单次放射治疗。放疗耐受良好,止血成功。11个月后,肿瘤再生并复发出血,需要再次接受8 gy治疗。再次照射可耐受,仅出现轻度皮炎,症状缓解。再次照射12个月后,乳腺癌得到控制,没有进一步出血。这些发现表明,8-Gy单次放射治疗可有效控制真菌性乳腺癌出血,并且止血时间可能比先前报道的更长。此外,这种方法可能是提供症状缓解的一种有价值的方式,特别是对于需要护理的老年患者,即使他们的预后相对较好。
{"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}
引用次数: 0
Two cases of genetic testing for familial adenomatous polyposis without a family history. 无家族史的家族性腺瘤性息肉病基因检测2例。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-30 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00782-x
Yusuke Makutani, Masayoshi Iwamoto, Koji Daito, Tadao Tokoro, Kazuki Ueda, Junichiro Kawamura

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.

家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传病,主要由大肠腺瘤性息肉病(APC)基因的致病性突变引起。一些FAP病例即使在没有家族史的情况下也能被临床诊断。NCCN临床实践指南(3.2024版)和日本结直肠癌协会遗传性结直肠癌临床实践指南(2020版)都建议对没有家族史的FAP病例进行基因检测;然而,由于伦理和经济方面的考虑,其实施受到限制。在此,我们报告了两个病例,其中对临床诊断为FAP的患者进行了基因检测,尽管没有家族史。病例1:一名44岁女性,经结肠镜检查确诊为横断结肠癌和息肉病。尽管没有FAP家族史,但根据术前发现,她被诊断为FAP (AFAP)。患者行腹腔镜下全结肠切除术和回直肠吻合术,并对肺转移进行辅助化疗和手术治疗。基因面板检测显示没有APC突变,但发现SMAD9突变被归类为不确定意义的变体。在超过9年的随访期间,患者未出现结直肠癌复发或FAP的结肠外表现。病例2:一名44岁的女性,在29岁时被诊断为息肉,并进行了结肠镜检查,表现为乙状结肠癌和息肉病。尽管没有FAP家族史,但根据术前发现,她被诊断为AFAP。患者行腹腔镜全结肠切除术并回肠造口术,6个月后行回肠造口术。同年进行的基因检测显示APC突变。术后1年零7个月的CT扫描显示疑为硬纤维瘤的软组织肿块,目前患者正在门诊随访。这些病例强调了基因检测在FAP临床管理中的重要性,以确保准确诊断和区分相关综合征。尽管在接受FAP基因检测的患者中只有20-40%检测到APC突变,但据报道,APC突变阴性的病例表型较轻。然而,其遗传特征仍不清楚。SMAD9突变的作用尚不完全清楚,但确定这种突变可能加深我们对结直肠息肉病综合征遗传关联的理解。
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引用次数: 0
A favorable antitumor efficacy of sotorasib in a patient with KRAS G12C-mutated pulmonary large-cell neuroendocrine carcinoma. sotorasib对KRAS g12c突变的肺大细胞神经内分泌癌患者有良好的抗肿瘤疗效。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-25 eCollection Date: 2025-10-01 DOI: 10.1007/s13691-025-00780-z
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

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.

近年来综合基因组分析的研究表明,一定比例的肺大细胞神经内分泌癌(LCNEC)患者存在一些驱动基因改变。我们在此报告一例79岁男性柯尔斯顿大鼠肉瘤病毒癌基因同源物g12c突变的肺LCNEC患者,在一线环境中接受化学免疫治疗。Sotorasib作为二线治疗显示出良好的部分缓解疗效。尽管sotorasib引起了严重的肝胆疾病,迫使我们终止治疗,但抗肿瘤反应持续了长达5.6个月,这几乎与关键临床试验报告的治疗效果相当。我们的病例和相关文献综述表明,对于LCNEC患者应考虑多重基因突变检测。此外,它还表明,在不久的将来,我们需要能够区分可能携带驱动基因改变的患者的生物标志物。
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引用次数: 0
Advancing immunotherapy in oncology. 肿瘤免疫治疗的进展。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-24 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00784-9
Noriomi Matsumura
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引用次数: 0
Definitive chemoradiotherapy for pulmonary epithelial-myoepithelial carcinoma. 肺上皮-肌上皮癌的决定性放化疗。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-08 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00779-6
Keijiro Yamauchi, Masashi Yokoyama, Kayo Ueda, Riiko Komuta, Hidetaka Tanabe, So Takata, Takafumi Yanase, Yuki Hosono, Shingo Satoh, Naoko Morishita, Hideo Mori, Hidekazu Suzuki

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.

肺上皮-肌上皮癌(P-EMC)是一种罕见的唾液腺肿瘤亚型,通常被认为是低级别恶性肿瘤,通常采用手术切除治疗。在这里,我们报告一例P-EMC接受明确的放化疗治疗。68岁男性P-EMC具有高度特征,Ki-67标记指数为60%,病情进展迅速。患者同时接受卡铂和紫杉醇的放化疗,导致肿瘤大小明显缩小。患者在完成放化疗9个月后仍存活,无疾病复发。该病例提示铂基放化疗是局部晚期不可切除的P-EMCs的可行治疗选择。
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International Cancer Conference Journal
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