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A rare case of primary prostate melanoma with extensive secondaries: case report. 罕见的原发性前列腺黑色素瘤伴广泛继发病例报告。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-06 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00778-7
Kumanan Jayaraman, Rejeesh Selvaganesan, Binitta Sherin

Melanoma originating from the genitourinary tract is very rare and accounts for less than 1% of all melanomas. Among the primary melanoma of the genitourinary tract, the bladder forms the most common anatomical location, followed by the adrenal gland, kidney, female urethra, and penis. Primary prostatic melanoma is a rare condition and poses a diagnostic challenge. We present a case report of primary prostatic melanoma in an elderly individual who presented with symptoms from a local extension of the disease.

起源于泌尿生殖道的黑色素瘤非常罕见,占所有黑色素瘤的不到1%。在泌尿生殖道原发性黑色素瘤中,膀胱是最常见的解剖位置,其次是肾上腺、肾脏、女性尿道和阴茎。原发性前列腺黑色素瘤是一种罕见的疾病,并提出了诊断的挑战。我们提出了一个病例报告的原发性前列腺黑色素瘤在一个老年个体谁提出了症状从局部延伸的疾病。
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引用次数: 0
A rare case of ALK-positive histiocytosis with neurological involvement in a 70-year-old woman successfully managed with partial resection and alectinib. 一例罕见的alk阳性组织细胞增多症伴神经系统病变,患者为70岁,经部分切除和alectinib治疗成功。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-06-03 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00776-9
Eiichiro So, Norihito Ishida, Akihiko Chida, Sara Horie, Shotaro Kishimoto, Kai Tsugaru, Hideyuki Hayashi, Yuya Koda, Masahiro Ozaki, Hajime Okita, Takanori Kanai, Kenro Hirata

Anaplastic lymphoma kinase (ALK)-positive histiocytosis is a recently classified rare subtype of histiocytic neoplasm, characterized by ALK immunoreactivity due to ALK gene rearrangement. Most reported cases have developed in infants and middle-aged individuals, with effective ALK inhibition. The clinicopathological spectrum remains uncharacterized because of few reported cases. Herein, we report a case of a 70-year-old woman diagnosed with ALK-positive histiocytosis involving the nervous system, successfully treated with partial surgical resection and alectinib administration. To the best of our knowledge, this is the oldest patient reported with this condition with nervous system involvement, expanding our understanding of its clinicopathological spectrum.

间变性淋巴瘤激酶(ALK)阳性组织细胞增生症是最近分类的一种罕见的组织细胞肿瘤亚型,其特征是由于ALK基因重排导致的ALK免疫反应性。大多数报告的病例发生在婴儿和中年个体中,具有有效的ALK抑制。由于报告的病例很少,临床病理谱仍然不明确。在此,我们报告一例70岁的妇女诊断为alk阳性组织细胞增多症累及神经系统,成功地通过部分手术切除和阿勒替尼治疗。据我们所知,这是报道的年龄最大的伴有神经系统病变的患者,扩大了我们对其临床病理谱的理解。
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引用次数: 0
Extended survival in a patient with leptomeningeal disease related to EGFR exon 19 deletion metastatic non-small cell lung cancer: a case report. 与EGFR外显子19缺失相关的轻脑膜疾病转移性非小细胞肺癌患者的延长生存期:1例报告
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-31 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00777-8
Ehab Harahsheh, Vinicius Ernani, Skyler J Taylor, Kliment Donev, Maciej M Mrugala

We report a case of a 60-year-old female diagnosed with epidermal growth factor receptor (EGFR) exon 19-mutant non-small cell lung cancer (NSCLC). She developed leptomeningeal disease (LMD) about 2 years after her initial cancer diagnosis and experienced multiple subsequent relapses of her leptomeningeal carcinomatosis with parenchymal brain metastases. She currently is alive with excellent performance status at 82 months since the LMD diagnosis. Treatment has consisted of different conventional and experimental EGFR targeted therapies along with intrathecal chemotherapy. This report, to the best of our knowledge, represents the longest overall survival (OS) of LMD reported in patients with EGFR-mutant NSCLC and suggests that leveraging different mechanisms of action to target EGFR mutation in a sequential fashion with multidisciplinary teams' involvement can potentially help control the LMD and prolong the OS in this patient population.

我们报告一例60岁女性被诊断为表皮生长因子受体(EGFR)外显子19突变的非小细胞肺癌(NSCLC)。她在最初的癌症诊断后大约2年患上了轻脑膜病(LMD),并经历了多次轻脑膜癌复发并脑实质转移。自LMD诊断82个月以来,她目前还活着,表现良好。治疗包括不同的常规和实验性EGFR靶向治疗以及鞘内化疗。据我们所知,该报告代表了EGFR突变NSCLC患者中LMD的最长总生存期(OS),并表明在多学科团队的参与下,利用不同的作用机制以顺序的方式靶向EGFR突变,可能有助于控制LMD并延长该患者群体的OS。
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引用次数: 0
Low-dose oral cyclophosphamide with or without bevacizumab treatment in patients with recurrent ovarian and cervical cancer before best supportive care. 低剂量口服环磷酰胺联合或不联合贝伐单抗治疗复发性卵巢癌和宫颈癌患者在最佳支持治疗前。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-30 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00775-w
Yusuke Kawaguchi, Ryusuke Murakami, Akihiro Yanai, Haruka Mieda, Azusa Sakurai, Saki Sawayama, Mie Sakai, Hirofumi Nonogaki, Yumi Takao

This study evaluates the efficacy and tolerability of low-dose oral cyclophosphamide, with or without bevacizumab, in treating recurrent ovarian and cervical cancer among patients heavily pretreated with platinum-based chemotherapy. It presents case reports of individuals who received low-dose cyclophosphamide (50 mg/day) and bevacizumab (15 mg/kg per cycle for three to four weeks) in a metronomic treatment approach. Focusing on three significant cases from a cohort of eleven treated with these regimens, the case report demonstrates partial responses, delayed disease progression, and minimal adverse effects. These findings highlight the regimen's potential to maintain quality of life and performance status. The study underscores the therapeutic benefits and mild toxicity profile of low-dose cyclophosphamide with or without bevacizumab, suggesting its potential as a viable treatment option for patients with extensive treatment history. This regimen is particularly promising in settings prioritizing quality of life.

本研究评估了低剂量口服环磷酰胺联合或不联合贝伐单抗治疗重度铂基化疗患者复发性卵巢癌和宫颈癌的疗效和耐受性。它介绍了在节拍治疗方法中接受低剂量环磷酰胺(50 mg/天)和贝伐单抗(15 mg/kg /周期,持续3至4周)的个体的病例报告。该病例报告集中于11例接受这些方案治疗的队列中的3例重要病例,显示了部分反应、延迟疾病进展和最小的不良反应。这些发现强调了该方案在维持生活质量和表现状态方面的潜力。该研究强调了低剂量环磷酰胺联合或不联合贝伐单抗的治疗益处和轻度毒性,表明其有潜力作为有广泛治疗史的患者的可行治疗选择。这种方案在优先考虑生活质量的环境中特别有希望。
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引用次数: 0
Metastatic urachal carcinoma treated with trifluridine/tipiracil and bevacizumab: a case report. 三氟定/替吡拉西联合贝伐单抗治疗转移性尿管癌1例
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-27 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00768-9
Takafumi Kitazono, Taichi Isobe, Satoshi Nishiyori, Wataru Kusano, Kenro Tanoue, Tomoyasu Yoshihiro, Hirofumi Ohmura, Kyoko Yamaguchi, Mamoru Ito, Kenji Tsuchihashi, Koichi Akashi, Eishi Baba

A 53-year-old man with a tumorous lesion at the bladder apex was diagnosed with an unresectable urachal carcinoma. After 10 cycles of combined therapy with 5-fluorouracil, leucovorin, and oxaliplatin, a combination of trifluridine/tipiracil and bevacizumab was initiated as second-line chemotherapy. Despite requiring a switch to bevacizumab monotherapy after the sixth cycle due to hematological toxicity, this regimen effectively controlled the disease for 16 cycles. It resulted in a progression-free survival of 17 months. To the best of our knowledge, this is the first report documenting the use of trifluridine/tipiracil and bevacizumab combination therapy for urachal carcinoma. While the observed disease control was notable in this patient, further accumulation of clinical experience and careful evaluation are warranted before generalizing the efficacy of this regimen in this rare malignancy.

一例53岁男性膀胱顶端肿瘤病变被诊断为不可切除的尿管癌。在5-氟尿嘧啶、亚叶酸蛋白和奥沙利铂联合治疗10个周期后,开始了trifluridine/tipiracil和bevacizumab的联合二线化疗。尽管由于血液学毒性,在第6个周期后需要切换到贝伐单抗单药治疗,但该方案有效地控制了16个周期的疾病。结果无进展生存期为17个月。据我们所知,这是第一份记录使用trifluridine/tipiracil和bevacizumab联合治疗尿管癌的报告。虽然在该患者中观察到的疾病控制是显著的,但在推广该方案对这种罕见恶性肿瘤的疗效之前,需要进一步积累临床经验和仔细评估。
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引用次数: 0
Bilateral osteonecrosis of the external auditory canal caused by bone-modifying agents for cancer bone metastases. 肿瘤骨转移的骨修饰剂引起的双侧外耳道骨坏死。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-27 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00772-z
Sayaka Yamaguchi, Tomoaki Mori, Naofumi Asano, Michiro Susa, Naoki Oishi, Hiroyuki Ozawa, Robert Nakayama

A 51-year-old woman with a 54-month history of treatment with bone-modifying agents for thyroid cancer bone metastases, namely zoledronic acid for three months and denosumab for 51 months, presented with jaw pain, trismus, and ear discharge. Physical examination, bacterial culture, and radiological findings led to a diagnosis of osteonecrosis of the external auditory canal. Since the discontinuation of denosumab did not improve the diagnosed condition, she underwent surgical reconstruction. Bone-modifying agents such as zoledronic acid and denosumab, which are commonly used to prevent skeletal-related events in patients with bone metastases from various cancers, have been used for several years, especially for patients with slow-growing cancers. Osteonecrosis of the external auditory canal is an infrequent but serious adverse event caused by prolonged use of bone-modifying agents. Therefore, clinicians should be fully aware of its potential risks in the long-term management of bone metastasis.

51岁女性,因甲状腺癌骨转移接受骨修饰药物治疗54个月,即唑来膦酸治疗3个月,地诺单抗治疗51个月,表现为下颚疼痛、牙牙错位、耳漏。体格检查,细菌培养和放射检查结果导致外耳道骨坏死的诊断。由于停用denosumab并没有改善诊断状况,她接受了手术重建。骨修饰剂,如唑来膦酸和地诺单抗,通常用于预防各种癌症骨转移患者的骨骼相关事件,已经使用了好几年,特别是对于生长缓慢的癌症患者。外耳道骨坏死是一种罕见但严重的不良事件,由长期使用骨修饰剂引起。因此,临床医生在长期治疗骨转移时应充分认识到其潜在风险。
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引用次数: 0
Complete response to pembrolizumab in mismatch repair-deficient urothelial carcinoma with local recurrence and recurrent upper tract urothelial carcinoma: a case report. 派姆单抗对错配修复缺陷尿路上皮癌局部复发和复发上尿路上皮癌的完全缓解:1例报告。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-24 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00774-x
Koichi Shiraishi, Masaki Shiota, Genshiro Fukuchi, Tokiyoshi Tanegashima, Shigehiro Tsukahara, Jun Mutaguchi, Satoshi Kobayashi, Takashi Matsumoto, Yoshinao Oda, Masatoshi Eto

Clinical evidence supporting the use of PD-1/PD-L1 inhibitors in treating urothelial carcinoma with microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) remains limited. We report a case of 77-year-old male with a history of multiple cancers. Immunohistochemical staining of bladder tumor revealed the loss of MSH2 and MSH6 expression, and MSI-H by PCR-based method and pathogenic alterations in MSH2 and MSH6 genes by next generation sequencing were confirmed, suggesting Lynch syndrome. He received pembrolizumab for local recurrence after total pelvic exenteration and recurrent upper tract urothelial carcinoma, and achieved complete remission. This case supports the potential of PD-1/PD-L1 inhibitors as a promising treatment option for MSI-H or dMMR urothelial carcinoma, similar to other solid tumors with MSI-H or dMMR.

支持使用PD-1/PD-L1抑制剂治疗具有微卫星不稳定性高(MSI-H)或错配修复缺陷(dMMR)的尿路上皮癌的临床证据仍然有限。我们报告一例77岁男性多发性癌症病史。膀胱肿瘤免疫组化染色显示MSH2、MSH6表达缺失,pcr检测MSI-H,下一代测序检测MSH2、MSH6基因致病性改变,提示Lynch综合征。他接受派姆单抗治疗盆腔全切除术后局部复发和复发上尿路上皮癌,并获得完全缓解。该病例支持PD-1/PD-L1抑制剂作为MSI-H或dMMR尿路上皮癌的有希望的治疗选择的潜力,类似于其他具有MSI-H或dMMR的实体肿瘤。
{"title":"Complete response to pembrolizumab in mismatch repair-deficient urothelial carcinoma with local recurrence and recurrent upper tract urothelial carcinoma: a case report.","authors":"Koichi Shiraishi, Masaki Shiota, Genshiro Fukuchi, Tokiyoshi Tanegashima, Shigehiro Tsukahara, Jun Mutaguchi, Satoshi Kobayashi, Takashi Matsumoto, Yoshinao Oda, Masatoshi Eto","doi":"10.1007/s13691-025-00774-x","DOIUrl":"https://doi.org/10.1007/s13691-025-00774-x","url":null,"abstract":"<p><p>Clinical evidence supporting the use of PD-1/PD-L1 inhibitors in treating urothelial carcinoma with microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) remains limited. We report a case of 77-year-old male with a history of multiple cancers. Immunohistochemical staining of bladder tumor revealed the loss of MSH2 and MSH6 expression, and MSI-H by PCR-based method and pathogenic alterations in <i>MSH2</i> and <i>MSH6</i> genes by next generation sequencing were confirmed, suggesting Lynch syndrome. He received pembrolizumab for local recurrence after total pelvic exenteration and recurrent upper tract urothelial carcinoma, and achieved complete remission. This case supports the potential of PD-1/PD-L1 inhibitors as a promising treatment option for MSI-H or dMMR urothelial carcinoma, similar to other solid tumors with MSI-H or dMMR.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 3","pages":"198-203"},"PeriodicalIF":0.5,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583835","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
Primary carcinosarcoma of the uterine cervix with somatic mutations of the ATM and NF2 genes: a case report. 宫颈原发性癌肉瘤伴ATM和NF2基因体细胞突变1例
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-24 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00770-1
Taichi Irie, Yasushi Iida, Yoshinobu Hamada, Jun Matsushima, Makoto Iizuka, Satoshi Takakura

Primary carcinosarcomas are a rare type of cervical tumors. A 75-year-old female patient diagnosed with stage IB2 cervical carcinosarcoma (CCS) was treated with radical surgery followed by adjuvant chemoradiotherapy. She survived without recurrence for 3 years after the surgery. Double somatic mutations of the ATM (c.802C > T [p.Glu268*], variant allele frequency [VAF] of 48.5%, and c.7181C > T [p.Ser2394Leu], VAF of 45.1%) and NF2 (c.1021C > T [p.Arg341*], VAF of 2.4%) genes were detected in the CCS via next-generation sequencing analyses. Retrospective studies using large databases should be performed to establish a consensus regarding the use of combination therapies in elderly patients with primary CCS. To the best of our knowledge, this report first revealed the presence of ATM mutations in a patient with primary CCS. Previous studies and the current data showed therapeutic possibilities for the subsets of gynecologic carcinosarcoma and provided information on the molecular mechanism of its development.

原发性癌肉瘤是一种罕见的宫颈肿瘤。一位75岁的女性患者被诊断为IB2期宫颈癌肉瘤(CCS),接受根治性手术和辅助放化疗。术后3年无复发。双体细胞突变的研究进展[j]。gl268 *],变异等位基因频率[VAF]为48.5%;[j], VAF(45.1%)和NF2 (c.1021C . >) [p]。Arg341*], VAF为2.4%)基因。应该使用大型数据库进行回顾性研究,以建立对老年原发性CCS患者使用联合治疗的共识。据我们所知,该报告首次揭示了原发性CCS患者中ATM突变的存在。以往的研究和目前的数据显示了妇科癌肉瘤亚群的治疗可能性,并提供了其发展的分子机制的信息。
{"title":"Primary carcinosarcoma of the uterine cervix with somatic mutations of the <i>ATM</i> and <i>NF2</i> genes: a case report.","authors":"Taichi Irie, Yasushi Iida, Yoshinobu Hamada, Jun Matsushima, Makoto Iizuka, Satoshi Takakura","doi":"10.1007/s13691-025-00770-1","DOIUrl":"https://doi.org/10.1007/s13691-025-00770-1","url":null,"abstract":"<p><p>Primary carcinosarcomas are a rare type of cervical tumors. A 75-year-old female patient diagnosed with stage IB2 cervical carcinosarcoma (CCS) was treated with radical surgery followed by adjuvant chemoradiotherapy. She survived without recurrence for 3 years after the surgery. Double somatic mutations of the <i>ATM</i> (c.802C > T [p.Glu268*], variant allele frequency [VAF] of 48.5%, and c.7181C > T [p.Ser2394Leu], VAF of 45.1%) and <i>NF2</i> (c.1021C > T [p.Arg341*], VAF of 2.4%) genes were detected in the CCS via next-generation sequencing analyses. Retrospective studies using large databases should be performed to establish a consensus regarding the use of combination therapies in elderly patients with primary CCS. To the best of our knowledge, this report first revealed the presence of <i>ATM</i> mutations in a patient with primary CCS. Previous studies and the current data showed therapeutic possibilities for the subsets of gynecologic carcinosarcoma and provided information on the molecular mechanism of its development.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 3","pages":"302-310"},"PeriodicalIF":0.5,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583842","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
Complete remission of unresectable advanced esophageal squamous cell carcinoma following nivolumab immunotherapy after chemoradiotherapy: a case report. 放化疗后纳武单抗免疫治疗后不可切除的晚期食管鳞状细胞癌完全缓解:1例报告。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-23 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00773-y
Ryohei Nishiguchi, Takeshi Shimakawa, Shinichi Asaka, Masako Ogawa, Masano Sagawa, Sachiyo Okayama, Kotaro Kuhara, Takebumi Usui, Hajime Yokomizo, Shunichi Shiozawa

A 65-year-old man presented with dysphagia and was diagnosed with advanced thoracic esophageal squamous cell carcinoma (ESCC, cStage III, cT3N2M0). Initial treatment included three courses of preoperative chemotherapy with the DCF regimen. However, computed tomography (CT) showed tumor progression, leading to esophageal obstruction at the level of the tracheal bifurcation. The patient subsequently underwent chemoradiotherapy (CRT) combining the DCF regimen with radiotherapy (59.4 Gy). While CRT resulted in tumor shrinkage and reduced lymph node metastasis, residual target lesions persisted. As second-line therapy, nivolumab (240 mg/body, biweekly) was initiated. The treatment was well tolerated, with no significant adverse events. After 36 courses of nivolumab, complete response (CR) of both the primary tumor and metastatic lymph nodes was confirmed through CT, PET-CT, and upper gastrointestinal endoscopy. The patient has remained recurrence-free, with no evidence of new metastasis, and continues to maintain favorable clinical progress. A literature review identified only eight cases of CR achieved with nivolumab for advanced esophageal cancer, with only two involving ESCC, both in cases of recurrence after surgery or CRT. This is the first reported case of CR achieved with nivolumab in unresectable advanced ESCC. Despite PD-L1 expression being below 1%, nivolumab elicited a robust antitumor immune response. This case highlights the potential of immunotherapy, even in cases with low PD-L1 expression, for advanced ESCC.

一名65岁男性患者因吞咽困难被诊断为晚期胸段食管鳞状细胞癌(ESCC, cStage III, cT3N2M0)。初始治疗包括术前三个疗程的DCF方案化疗。然而,计算机断层扫描(CT)显示肿瘤进展,导致气管分叉处食道梗阻。患者随后接受放化疗(CRT), DCF方案联合放疗(59.4 Gy)。虽然CRT导致肿瘤缩小和淋巴结转移减少,但残留的靶病变仍然存在。作为二线治疗,纳武单抗(240mg /体,双周)开始。治疗耐受性良好,无明显不良事件。经过36个疗程的纳武单抗治疗后,通过CT、PET-CT和上消化道内窥镜确认原发肿瘤和转移淋巴结的完全缓解(CR)。该患者无复发,无新的转移迹象,并继续保持良好的临床进展。一项文献综述发现,只有8例晚期食管癌患者使用纳武单抗达到CR,其中只有2例涉及ESCC,均为手术或CRT后复发的病例。这是第一例报道的在不可切除的晚期ESCC中使用纳沃单抗实现CR的病例。尽管PD-L1表达低于1%,但纳武单抗引发了强大的抗肿瘤免疫反应。该病例强调了免疫治疗的潜力,即使在PD-L1低表达的情况下,也可以治疗晚期ESCC。
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引用次数: 0
Favorable response to nivolumab combined with radiotherapy for retroperitoneal leiomyosarcoma. 纳武单抗联合放疗治疗腹膜后平滑肌肉瘤疗效良好。
IF 0.5 Q4 ONCOLOGY Pub Date : 2025-05-16 eCollection Date: 2025-07-01 DOI: 10.1007/s13691-025-00771-0
Shin Ishihara, Kouya Shiraishi, Akihiko Yoshida, Taisuke Mori, Toshihide Ueno, Hanako Ono, Hitoshi Ichikawa, Shigehiro Yagishita, Shinji Kohsaka, Yasushi Goto, Yasushi Yatabe, Akinobu Hamada, Akira Kawai, Hiroyuki Mano, Shintaro Iwata

Retroperitoneal sarcoma (RPS) is a biologically heterogeneous tumor and rare malignant mesenchymal soft-tissue neoplasm. Although the 5-year overall survival rate for RPS is approximately 60%-70%, it is quite low for unresectable tumors. Surgery is a standard treatment for RPS. Immune checkpoint inhibitors (ICIs) have shown promising effects against various tumor types; however, the efficacy of ICIs for RPS is unclear and the combination of ICIs with other drugs or treatments has been considered. We report the case of a 71-year-old woman with dual primary cancer, retroperitoneal leiomyosarcoma, and malignant melanoma in the lower leg. Retroperitoneal leiomyosarcoma was considered inoperable and managed with palliative radiotherapy. However, subsequent treatment with nivolumab for melanoma resulted in significant shrinkage of the retroperitoneal leiomyosarcoma. The genomic analysis revealed a low TMB and poor CD8 score. These findings suggest that the retroperitoneal leiomyosarcoma would be immunologically cold. We report an unexpectedly successful treatment of RPS with ICI therapy after radiotherapy. There have been few reports on the detailed genetic profiles of sarcomas that respond to ICI therapy. Our findings suggest that the combination of radiotherapy and ICIs has therapeutic potential for immunologically cold tumors and may be a useful treatment strategy for RPS.

Supplementary information: The online version contains supplementary material available at 10.1007/s13691-025-00771-0.

腹膜后肉瘤(RPS)是一种生物异质性肿瘤和罕见的恶性间充质软组织肿瘤。虽然RPS的5年总生存率约为60%-70%,但对于不可切除的肿瘤,其生存率相当低。手术是RPS的标准治疗方法。免疫检查点抑制剂(ICIs)已显示出对多种肿瘤类型的良好作用;然而,ICIs对RPS的疗效尚不清楚,已考虑与其他药物或治疗联合使用ICIs。我们报告的情况下,71岁的妇女双重原发癌症,腹膜后平滑肌肉瘤,并在小腿恶性黑色素瘤。腹膜后平滑肌肉瘤被认为是不能手术和姑息性放疗治疗。然而,随后用纳武单抗治疗黑色素瘤导致腹膜后平滑肌肉瘤显著缩小。基因组分析显示TMB较低,CD8评分较差。这些结果提示腹膜后平滑肌肉瘤可能是免疫冷的。我们报告了放疗后ICI治疗RPS的意外成功。关于对ICI治疗有反应的肉瘤的详细遗传概况的报道很少。我们的研究结果表明,放疗和ICIs联合治疗免疫性冷肿瘤具有治疗潜力,可能是一种有效的治疗RPS的策略。补充信息:在线版本包含补充资料,提供地址为10.1007/s13691-025-00771-0。
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引用次数: 0
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