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Sequential Diagnosis of Metastatic Breast Cancer and Follicular Lymphoma in a Postmenopausal Woman: Navigating Endocrine and Cytotoxic Therapies in a Complex Oncologic Setting. 绝经后妇女转移性乳腺癌和滤泡性淋巴瘤的顺序诊断:在复杂的肿瘤环境中导航内分泌和细胞毒性治疗。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-26 eCollection Date: 2025-01-01 DOI: 10.1159/000548616
Hye Sook Kim, Sunhee Chang, Jae Il Kim, Hye Ryeong Kwon

Introduction: Dual primary malignancies involving solid and hematologic tumors are rare, posing significant diagnostic and therapeutic challenges. We report here a case of concurrent breast cancer and follicular lymphoma.

Case presentation: A 52-year-old woman with hormone receptor-positive early-stage breast cancer (pT2N2a) developed pleural metastasis concurrently with newly diagnosed follicular lymphoma (Ann Arbor stage IIIA, grades 1-2) at 3 years post-diagnosis. The lymphoma progressed during treatment for metastatic breast cancer. Consequently, the treatment was switched to combination immunochemotherapy with rituximab, cyclophosphamide, vincristine, and prednisolone (R-CVP). The patient achieved a partial response for follicular lymphoma, without breast cancer progression. Endocrine therapy with letrozole and palbociclib was successfully resumed following bone marrow recovery.

Conclusion: This case highlights the need to consider secondary malignancies during cancer treatment and demonstrates the clinical utility of R-CVP in the management of dual cancer.

涉及实体和血液肿瘤的双重原发恶性肿瘤是罕见的,提出了重大的诊断和治疗挑战。我们在此报告一例并发乳腺癌和滤泡性淋巴瘤。病例介绍:一名52岁的激素受体阳性早期乳腺癌(pT2N2a)女性在诊断3年后并发胸膜转移并新诊断为滤泡性淋巴瘤(Ann Arbor IIIA期,1-2级)。淋巴瘤在转移性乳腺癌治疗期间进展。因此,治疗转为联合利妥昔单抗、环磷酰胺、长春新碱和强的松龙(R-CVP)的免疫化疗。患者对滤泡性淋巴瘤获得部分缓解,无乳腺癌进展。骨髓恢复后成功恢复来曲唑和帕博西尼内分泌治疗。结论:该病例强调了在癌症治疗过程中考虑继发性恶性肿瘤的必要性,并证明了R-CVP在双重肿瘤治疗中的临床应用。
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引用次数: 0
Metastatic Epstein-Barr Virus-Associated Lymphoepithelioma-Like Carcinoma of Small Bowel Origin. 转移性eb病毒相关淋巴上皮瘤样小肠癌。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-26 eCollection Date: 2025-01-01 DOI: 10.1159/000548676
Jacqueline J Tao, Hanina Hibshoosh, Stephen M Lagana, Fiyinfolu Balogun, Ruth A White

Introduction: Lymphoepithelioma-like carcinomas (LELC) are rare tumors composed of poorly differentiated epithelial cells with a prominent lymphoid stromal infiltrate. This tumor histology has been described in various tissues of origin including the nasopharynx, lung, thymus, breast, bladder, and others. However, involvement of the gastrointestinal system is relatively uncommon and has most often been described in the stomach.

Case presentation: Here, we report a case of a young woman who presented with metastatic disease of unclear primary involving the liver and abdominal lymph nodes, along with marked Epstein-Barr virus (EBV) viremia. She was ultimately found to have metastatic EBV-associated lymphoepithelioma-like carcinoma of likely small bowel origin, an uncommon tissue of origin for a rare histopathology. She was treated with chemotherapy and immunotherapy regimens commonly used for gastrointestinal and biliary cancers, with an initial treatment response but ultimately rapid tumor progression.

Conclusion: LELCs are rare tumors that uncommonly involve the gastrointestinal system, particularly the small bowel. Further reports are needed to better understand disease presentation, pathophysiology, prognosis, and management.

淋巴上皮瘤样癌(LELC)是一种罕见的肿瘤,由低分化上皮细胞组成,并伴有明显的淋巴样基质浸润。这种肿瘤的组织学已在各种组织中被描述,包括鼻咽、肺、胸腺、乳房、膀胱和其他组织。然而,累及胃肠道系统是相对罕见的,最常被描述为胃。病例介绍:在这里,我们报告了一例年轻女性,她表现为原发性转移性疾病,累及肝脏和腹部淋巴结,并伴有明显的eb病毒血症。她最终被发现患有转移性ebv相关淋巴上皮瘤样癌,可能起源于小肠,这是一种罕见的组织病理学。她接受了通常用于胃肠道和胆道癌的化疗和免疫治疗方案,最初治疗有反应,但最终肿瘤进展迅速。结论:lecs是一种罕见的肿瘤,很少累及胃肠道系统,尤其是小肠。需要进一步的报告,以更好地了解疾病的表现,病理生理,预后和管理。
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引用次数: 0
A Long-Term Survival Case Report of a Patient with Pulmonary Sarcomatoid Carcinoma Accompanied by Brain Metastasis: Implications for Immunotherapy. 肺肉瘤样癌伴脑转移的长期存活病例报告:免疫治疗的意义。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-24 eCollection Date: 2025-01-01 DOI: 10.1159/000548576
Yulu Ouyang, Tao Peng

Introduction: Pulmonary sarcomatoid carcinoma (PSC) is a rare and highly malignant pathological subtype of non-small cell lung cancer. Most patients are diagnosed at an advanced stage. Chemotherapy is a treatment option to be considered. However, PSC is not sensitive to chemotherapy. The high expression of PD-L1 in PSC and the abundant infiltration of immune cells suggest that immunotherapy may be effective for PSC.

Case presentation: Here, we present a case of PSC. The patient was diagnosed with advanced lung cancer with metastases to the brain, liver, left adrenal gland, and bone. After 4 cycles of chemotherapy combined with camrelizumab, the patient received monotherapy with immunotherapy. After the progression of brain metastases, brain radiotherapy was added. It has been 43 months since the patient was diagnosed with lung cancer. The patient's condition remains stable and there are no obvious side effects.

Conclusion: For patients with PSC, genetic testing is necessary. The efficacy of immunotherapy in patients with PSC is worthy of expectation.

肺肉瘤样癌(Pulmonary sarcomatoid carcinoma, PSC)是一种罕见的非小细胞肺癌的高恶性病理亚型。大多数患者在晚期被诊断出来。化疗是一种可以考虑的治疗方案。然而,PSC对化疗不敏感。PD-L1在PSC中的高表达和免疫细胞的大量浸润提示免疫治疗可能对PSC有效。病例报告:在这里,我们报告一个PSC病例。患者被诊断为晚期肺癌,并转移到脑、肝、左肾上腺和骨。化疗联合camrelizumab 4个周期后,患者接受单药免疫治疗。脑转移进展后,加行脑放疗。这名患者被确诊为肺癌已经过去了43个月。患者病情稳定,无明显副作用。结论:对PSC患者进行基因检测是必要的。免疫治疗在PSC患者中的疗效值得期待。
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引用次数: 0
Spontaneous Massive Retroperitoneal Hematoma: A Rare Complication of Anticoagulation after Stenting in Malignant Superior Vena Cava Syndrome. 自发性腹膜后大量血肿:恶性上腔静脉综合征支架置入术后抗凝治疗的罕见并发症。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-24 eCollection Date: 2025-01-01 DOI: 10.1159/000548600
Debanjan Nandi, Saurabh Raj, Sanjeev Kumar, Amarinder Singh, Rudrakshi Mahaldar

Introduction: Superior vena cava (SVC) syndrome is a well-recognized complication of thoracic malignancies, most commonly small-cell lung cancer. Endovascular stenting is preferred because it provides rapid symptom relief and restores venous patency. However, the role of post-stenting anticoagulation remains controversial, and complications related to its use are rarely reported. We describe such a case in a patient with malignant SVC syndrome.

Case presentation: A 51-year-old woman with small-cell carcinoma of the lung and SVC syndrome underwent stenting of the SVC. After the procedure, she was on prophylactic low-molecular-weight heparin and developed a large retroperitoneal hematoma with a significant decrease in hemoglobin on day four. The patient was managed with a transfusion and conservative care. Massive retroperitoneal hematomas secondary to anticoagulation therapy after SVC stenting are highly uncommon.

Conclusion: There is currently no consensus guideline on post-stenting anticoagulation in malignant SVC syndrome. This case highlights one of the problems encountered in the post-stenting scenario of malignant SVC syndrome.

上腔静脉(SVC)综合征是一种公认的胸部恶性肿瘤的并发症,最常见的是小细胞肺癌。血管内支架置入术是首选,因为它能快速缓解症状并恢复静脉通畅。然而,支架植入术后抗凝的作用仍然存在争议,其使用相关的并发症很少报道。我们描述这样一个病例的病人恶性SVC综合征。病例介绍:51岁女性小细胞肺癌伴SVC综合征行SVC支架置入术。术后,患者接受预防性低分子肝素治疗,第4天出现腹膜后大血肿,血红蛋白显著降低。病人接受了输血和保守治疗。SVC支架植入术后抗凝治疗继发的腹膜后大量血肿是非常罕见的。结论:恶性SVC综合征支架植入术后抗凝治疗目前尚无共识指南。本病例强调了恶性SVC综合征支架植入后所遇到的问题之一。
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引用次数: 0
Switching from Zoledronic Acid to Denosumab for Bone Modification Therapy in Patients with Malignant Tumors and Renal Insufficiency: A Retrospective Case Series and Literature Review. 恶性肿瘤和肾功能不全患者骨修饰治疗从唑来膦酸转向地诺单抗:回顾性病例系列和文献综述。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-24 eCollection Date: 2025-01-01 DOI: 10.1159/000548575
Junmei Zhang, Xuezheng Wang, Yan Xue

Introduction: Zoledronic acid is a common treatment for bone metastases in malignancies, but it is contraindicated in patients with severe renal insufficiency due to its nephrotoxicity. Dose adjustments are necessary for those with mild-to-moderate renal insufficiency. Denosumab is not metabolized by the kidney, hence providing an alternative for patients who are unable to receive zoledronic acid due to nephrotoxicity.

Case presentation: In this study, we retrospectively reviewed 4 patient cases with bone metastases from solid tumors (two breast cancer, one prostate cancer, and one lung cancer), all developed nephrotoxicity during zoledronic acid treatment and subsequently switched to denosumab. Renal function either improved or remained stable following the switch. And a review of the literature related to denosumab was conducted.

Conclusion: Patients with abnormal renal function, BRCA1 mutations, or those at high risk of developing skeletal-related events may benefit from denosumab over zoledronic acid. During denosumab treatment in patients with renal dysfunction, attention should be paid to the occurrence of hypocalcemia.

简介:唑来膦酸是治疗恶性肿瘤骨转移的常用药物,但由于其肾毒性,严重肾功能不全患者禁用。对于轻度至中度肾功能不全的患者,需要调整剂量。Denosumab不被肾脏代谢,因此为由于肾毒性而无法接受唑来膦酸治疗的患者提供了另一种选择。病例介绍:在本研究中,我们回顾性回顾了4例实体瘤骨转移患者(2例乳腺癌,1例前列腺癌和1例肺癌),所有患者在唑来膦酸治疗期间出现肾毒性,随后改用地诺单抗。肾脏功能在转换后改善或保持稳定。并对denosumab的相关文献进行了综述。结论:肾功能异常、BRCA1突变或发生骨骼相关事件高风险的患者可能比唑来膦酸更适合地诺单抗。在denosumab治疗肾功能不全患者时,应注意低钙血症的发生。
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引用次数: 0
Tracheal Chondrosarcoma: A Case Report and Discussion. 气管软骨肉瘤1例报告及讨论。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-23 eCollection Date: 2025-01-01 DOI: 10.1159/000548086
Yordan Krastev, Rostislav Manev, Georgi Todorov, Nikolay Conev

Introduction: Tracheal chondrosarcoma is an exceedingly rare malignant tumor arising from the cartilage parts of the trachea, with less than 40 cases described in the English literature. We aim to explore the current literature on the topic and present 1 more case of tracheal chondrosarcoma in a 69-year-old male.

Case presentation: A 69-year-old male presented with upper airway obstruction and difficulty breathing. He also reported recent unintentional weight loss and night sweats. A computed tomography (CT) scan upon hospitalization revealed a large tumor formation that was obstructing the tracheal lumen and an interventional bronchoscopy for tumor debulking was performed. The histological examination determined it was a case of a high grade (G3) chondrosarcoma of the trachea. Later on, the patient underwent tracheal resection and reconstruction after which he was referred to radiation oncology for radiotherapy. Three months after concluding radiotherapy, a PET/CT scan showed no evidence of local recurrence or distant metastasis. On the fifth month post-radiation due to complaints of purulent discharge from the tracheostomy, a new biopsy was performed which determined there was local recurrence of the tumor. The patient was started on first-line chemotherapy with paclitaxel monotherapy. Restaging with CT scan was done after the fourth and sixth cycles, with inconclusive data for progression. Currently, he is scheduled to receive 4 more cycles' paclitaxel monotherapy and then be reevaluated.

Conclusion: The literature on the topic is still scarce and more cases reported are needed in order to optimize the treatment of our patients and achieve the best outcome.

气管软骨肉瘤是一种极为罕见的发生于气管软骨部分的恶性肿瘤,在英文文献中报道的病例不足40例。我们的目的是探讨当前文献的主题,并提出1例气管软骨肉瘤在一个69岁的男性。病例介绍:一名69岁男性,因上呼吸道阻塞及呼吸困难。他还报告说,最近体重意外减轻,还出现盗汗。住院时的计算机断层扫描(CT)显示一个大的肿瘤形成阻塞了气管腔,并进行了介入支气管镜检查以缩小肿瘤。组织学检查确定为气管高级别(G3)软骨肉瘤。后来,患者接受了气管切除术和重建,之后他被转介到放射肿瘤学进行放疗。放疗结束3个月后,PET/CT扫描未发现局部复发或远处转移的证据。放疗后第5个月,由于气管造口术后脓性分泌物的抱怨,进行了一次新的活检,确定肿瘤局部复发。患者开始一线化疗紫杉醇单药治疗。在第四个和第六个周期后进行CT扫描,没有确定的进展数据。目前,他计划再接受4个周期的紫杉醇单药治疗,然后重新评估。结论:关于该主题的文献仍然很少,需要更多的病例报道,以优化我们的患者的治疗方法,达到最佳效果。
{"title":"Tracheal Chondrosarcoma: A Case Report and Discussion.","authors":"Yordan Krastev, Rostislav Manev, Georgi Todorov, Nikolay Conev","doi":"10.1159/000548086","DOIUrl":"10.1159/000548086","url":null,"abstract":"<p><strong>Introduction: </strong>Tracheal chondrosarcoma is an exceedingly rare malignant tumor arising from the cartilage parts of the trachea, with less than 40 cases described in the English literature. We aim to explore the current literature on the topic and present 1 more case of tracheal chondrosarcoma in a 69-year-old male.</p><p><strong>Case presentation: </strong>A 69-year-old male presented with upper airway obstruction and difficulty breathing. He also reported recent unintentional weight loss and night sweats. A computed tomography (CT) scan upon hospitalization revealed a large tumor formation that was obstructing the tracheal lumen and an interventional bronchoscopy for tumor debulking was performed. The histological examination determined it was a case of a high grade (G3) chondrosarcoma of the trachea. Later on, the patient underwent tracheal resection and reconstruction after which he was referred to radiation oncology for radiotherapy. Three months after concluding radiotherapy, a PET/CT scan showed no evidence of local recurrence or distant metastasis. On the fifth month post-radiation due to complaints of purulent discharge from the tracheostomy, a new biopsy was performed which determined there was local recurrence of the tumor. The patient was started on first-line chemotherapy with paclitaxel monotherapy. Restaging with CT scan was done after the fourth and sixth cycles, with inconclusive data for progression. Currently, he is scheduled to receive 4 more cycles' paclitaxel monotherapy and then be reevaluated.</p><p><strong>Conclusion: </strong>The literature on the topic is still scarce and more cases reported are needed in order to optimize the treatment of our patients and achieve the best outcome.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1262-1268"},"PeriodicalIF":0.7,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250069","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
The Great Pretender: Echinococcal Infections Posing as Liver Cancer - Two Case Reports. 伟大的伪装者:包虫病感染冒充肝癌-两例报告。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-22 eCollection Date: 2025-01-01 DOI: 10.1159/000548599
Beatriz Calle Serrano, Joachim Hohmann, Christian Bayerl, Guacimara Ortega Sanchez

Introduction: Medical professionals are well aware that imaging techniques are not infallible in accurately diagnosing cancer or staging patients with histologically confirmed cancer. Pathologists often emerge as game changers, prompting a complete re-evaluation of the therapeutic approach.

Case presentations: Here we present 2 cases of patients initially diagnosed with suspicious cancer lesions that were subsequently identified as echinococcal hydatids. Beyond the clinical findings, the patients' perspectives vividly illustrate the psychological burden of misdiagnosis and the impact of treatment side effects. From an epidemiological standpoint, alveolar echinococcosis remains rare, but its incidence is steadily increasing in Central Europe, with Switzerland being a region of particularly high prevalence.

Conclusion: These case reports emphasize the reality that not all liver masses indicate malignancy and underscore the importance of histological diagnosis before cancer treatment.

医学专业人员都很清楚,在准确诊断癌症或对组织学证实的癌症进行分期方面,成像技术并不是绝对可靠的。病理学家经常成为游戏规则的改变者,促使人们对治疗方法进行彻底的重新评估。病例介绍:在这里,我们提出2例最初诊断为可疑癌症病变的患者,随后被确定为棘球蚴病。除了临床发现,患者的观点生动地说明了误诊的心理负担和治疗副作用的影响。从流行病学的角度来看,肺泡包虫病仍然很少见,但其发病率在中欧稳步上升,瑞士是患病率特别高的地区。结论:这些病例报告强调了并非所有肝脏肿块都是恶性肿瘤的事实,并强调了肿瘤治疗前组织学诊断的重要性。
{"title":"The Great Pretender: Echinococcal Infections Posing as Liver Cancer - Two Case Reports.","authors":"Beatriz Calle Serrano, Joachim Hohmann, Christian Bayerl, Guacimara Ortega Sanchez","doi":"10.1159/000548599","DOIUrl":"10.1159/000548599","url":null,"abstract":"<p><strong>Introduction: </strong>Medical professionals are well aware that imaging techniques are not infallible in accurately diagnosing cancer or staging patients with histologically confirmed cancer. Pathologists often emerge as game changers, prompting a complete re-evaluation of the therapeutic approach.</p><p><strong>Case presentations: </strong>Here we present 2 cases of patients initially diagnosed with suspicious cancer lesions that were subsequently identified as echinococcal hydatids. Beyond the clinical findings, the patients' perspectives vividly illustrate the psychological burden of misdiagnosis and the impact of treatment side effects. From an epidemiological standpoint, alveolar echinococcosis remains rare, but its incidence is steadily increasing in Central Europe, with Switzerland being a region of particularly high prevalence.</p><p><strong>Conclusion: </strong>These case reports emphasize the reality that not all liver masses indicate malignancy and underscore the importance of histological diagnosis before cancer treatment.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1375-1385"},"PeriodicalIF":0.7,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12558663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145387257","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 Monophasic Synovial Sarcoma of the Plantar Foot with Pulmonary Metastases in a Young Adult: A Rare Case Report. 原发性单相足底滑膜肉瘤合并肺转移一例:罕见病例报告。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-20 eCollection Date: 2025-01-01 DOI: 10.1159/000548598
Mohammad Alaa Aldakak, Ahmad Yassin, Ward Hasan, Ahmad Al-Bitar

Background: Synovial sarcoma is a rare, high-grade malignant tumor of mesenchymal origin, accounting for 5-10% of all soft tissue sarcomas. Although it predominantly affects the lower extremities, involvement of the foot is considered uncommon. Diagnosis is often delayed due to its indolent growth, deep anatomical location, and non-specific clinical presentation.

Case presentation: We report the case of a 28-year-old Arab male smoker who presented with a progressively enlarging, painful soft tissue mass in the plantar aspect of his left foot, associated with swelling and superficial ulcerations. Radiographic evaluation revealed a sub-metatarsal soft tissue mass with preserved bony structures. Magnetic resonance imaging showed a large, poorly defined lesion infiltrating flexor and extensor tendons, as well as adjacent neurovascular bundles. Chest computed tomography revealed bilateral pulmonary nodules and mass-like consolidations suggestive of metastatic disease. The patient underwent metatarsal-level amputation, and histopathology confirmed a diagnosis of monophasic high-grade synovial sarcoma. He was started on systemic chemotherapy (ifosfamide, gemcitabine, and taxane), followed by targeted therapy (pazopanib). Follow-up imaging demonstrated a partial response with a reduction in metastatic burden.

Conclusion: This case illustrates a rare and aggressive presentation of synovial sarcoma arising in the plantar foot, emphasizing the importance of including synovial sarcoma in the differential diagnosis of soft tissue masses in distal extremities. Early imaging, accurate histopathological assessment, and a multidisciplinary treatment approach are essential for optimizing outcomes in such high-grade, metastatic presentations.

背景:滑膜肉瘤是一种罕见的间质恶性肿瘤,占所有软组织肉瘤的5-10%。虽然它主要影响下肢,但累及足部并不常见。由于其生长缓慢,解剖位置深,临床表现非特异性,诊断往往延迟。病例介绍:我们报告一个28岁的阿拉伯男性吸烟者的情况下,提出了一个渐进的扩大,疼痛的软组织肿块,在他的左脚足底方面,与肿胀和浅表溃疡。x线检查显示跖骨下软组织肿块,骨结构保存完好。磁共振成像显示一个大的,界限不清的病变浸润屈、伸肌腱,以及邻近的神经血管束。胸部计算机断层扫描显示双侧肺结节和肿块样实变,提示转移性疾病。患者行跖骨截肢,组织病理学确诊为单相高级别滑膜肉瘤。他开始全身化疗(异环磷酰胺、吉西他滨和紫杉烷),随后进行靶向治疗(帕唑帕尼)。随访影像显示部分缓解,转移负担减轻。结论:本病例表现了一种罕见且侵袭性的足底滑膜肉瘤,强调了将滑膜肉瘤纳入远端肢体软组织肿块鉴别诊断的重要性。早期成像,准确的组织病理学评估和多学科治疗方法对于优化这种高级别转移性表现的结果至关重要。
{"title":"Primary Monophasic Synovial Sarcoma of the Plantar Foot with Pulmonary Metastases in a Young Adult: A Rare Case Report.","authors":"Mohammad Alaa Aldakak, Ahmad Yassin, Ward Hasan, Ahmad Al-Bitar","doi":"10.1159/000548598","DOIUrl":"10.1159/000548598","url":null,"abstract":"<p><strong>Background: </strong>Synovial sarcoma is a rare, high-grade malignant tumor of mesenchymal origin, accounting for 5-10% of all soft tissue sarcomas. Although it predominantly affects the lower extremities, involvement of the foot is considered uncommon. Diagnosis is often delayed due to its indolent growth, deep anatomical location, and non-specific clinical presentation.</p><p><strong>Case presentation: </strong>We report the case of a 28-year-old Arab male smoker who presented with a progressively enlarging, painful soft tissue mass in the plantar aspect of his left foot, associated with swelling and superficial ulcerations. Radiographic evaluation revealed a sub-metatarsal soft tissue mass with preserved bony structures. Magnetic resonance imaging showed a large, poorly defined lesion infiltrating flexor and extensor tendons, as well as adjacent neurovascular bundles. Chest computed tomography revealed bilateral pulmonary nodules and mass-like consolidations suggestive of metastatic disease. The patient underwent metatarsal-level amputation, and histopathology confirmed a diagnosis of monophasic high-grade synovial sarcoma. He was started on systemic chemotherapy (ifosfamide, gemcitabine, and taxane), followed by targeted therapy (pazopanib). Follow-up imaging demonstrated a partial response with a reduction in metastatic burden.</p><p><strong>Conclusion: </strong>This case illustrates a rare and aggressive presentation of synovial sarcoma arising in the plantar foot, emphasizing the importance of including synovial sarcoma in the differential diagnosis of soft tissue masses in distal extremities. Early imaging, accurate histopathological assessment, and a multidisciplinary treatment approach are essential for optimizing outcomes in such high-grade, metastatic presentations.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1361-1366"},"PeriodicalIF":0.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647468","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
Right Atrial Myxoma in a Young Patient with a DSG-2 Genetic Mutation: A Case Report. 右心房黏液瘤伴DSG-2基因突变1例。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-20 eCollection Date: 2025-01-01 DOI: 10.1159/000548558
Samuel Paul Attard, Joseph Galea

Introduction: Primary heart tumours, particularly right atrial myxomas, are exceedingly rare. We present a particularly unique case of a young patient who was found to have a right atrial myxoma while carrying a desmoglein-2 (DSG-2) gene splice-site variant, a mutation typically associated with cardiomyopathies but not previously reported concomitantly with atrial myxoma development.

Case presentation: A young male in his twenties presented with constitutional symptoms, including dizziness and palpitations. An echocardiogram showed a 3.5-4 cm right atrial mass originating from the right atrium-superior vena cava junction. Surgical excision via midline sternotomy and right atriotomy was performed without complications. Histopathology confirmed a benign atrial myxoma. Given the patient's age and some clinical features suggestive of Carney complex (CNC), genetic testing was undertaken. CNC associated mutations were excluded, but a DSG-2 splice-site variant was identified. This gene is known to play a role in desmosomal integrity and has been implicated in arrhythmogenic right ventricular cardiomyopathy, hypertrophic cardiomyopathy, and dilated cardiomyopathy. However, it has not been previously associated with myxoma pathogenesis.

Conclusion: This is the first documented case of a right atrial myxoma concomitantly existing with a DSG-2 variant. While the presence of this gene cannot be directly linked to the presence of a myxoma, the possibility of a genetic association is relevant. Further research and broader genetic screening in such cases can possibly uncover a potential link and aid in the further understanding of atypical cardiac tumour biology.

原发性心脏肿瘤,尤其是右心房黏液瘤,是极为罕见的。我们提出了一个特别独特的案例,一个年轻的病人被发现有右心房黏液瘤,同时携带粘蛋白-2 (DSG-2)基因剪接位点变异,一个突变通常与心肌病相关,但以前没有报道与心房黏液瘤的发展。病例介绍:一名二十多岁的年轻男性,表现出包括头晕和心悸在内的体质症状。超声心动图显示一个3.5- 4cm的右心房肿块起源于右心房-上腔静脉交界处。经胸骨中线切开术和右心房切开术行手术切除,无并发症。组织病理学证实为良性心房黏液瘤。考虑到患者的年龄和一些提示卡尼综合征(CNC)的临床特征,进行了基因检测。CNC相关突变被排除在外,但发现了DSG-2剪接位点变异。已知该基因在桥粒体完整性中起作用,并与致心律失常性右室心肌病、肥厚性心肌病和扩张性心肌病有关。然而,它以前并没有与黏液瘤的发病机制联系起来。结论:这是第一例右心房黏液瘤伴DSG-2变异的病例。虽然该基因的存在不能与黏液瘤的存在直接联系,但遗传关联的可能性是相关的。在这种情况下,进一步的研究和更广泛的基因筛查可能会发现潜在的联系,并有助于进一步了解非典型心脏肿瘤生物学。
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引用次数: 0
Beyond the Eye: A Unique Case of Choroidal Melanoma with Extra-Ocular Extension. 眼外:一例独特的脉络膜黑色素瘤伴眼外延伸。
IF 0.7 Q4 ONCOLOGY Pub Date : 2025-09-20 eCollection Date: 2025-01-01 DOI: 10.1159/000548574
Juned Islam, Dost Jabarkhyl, Haseeb Qureshi, Sepideh Amin, Ali Hassan

Introduction: Choroidal melanoma, the most common primary intraocular malignancy, can present diagnostic and therapeutic challenges, especially when complicated by unusual features such as extraocular extension and perineural invasion.

Case presentation: We report the case of a 45-year-old Caucasian male who initially presented with left-sided vision loss, hearing deficits, and symptoms resembling retinal detachment. Imaging revealed a hyperreflective vitreous mass, but a definitive diagnosis was delayed due to complex MRI findings, which suggested a haemorrhagic process without clear evidence of malignancy. The patient's symptoms rapidly worsened, leading to left eye enucleation. Histopathology confirmed necrotic choroidal melanoma with extraocular extension, optic nerve head infiltration, and perineural invasion, while BAP1-negative status indicated a poorer prognosis. Despite these aggressive features, no distant metastasis was detected on follow-up imaging, a notable and unusual finding.

Conclusion: This case highlights the diagnostic complexity of choroidal melanoma when complicated by secondary findings such as inflammation and necrosis. It also underscores the importance of multidisciplinary management, timely intervention, and vigilant surveillance in cases with high-risk features. This case contributes to the limited literature on choroidal melanoma with perineural invasion, a rare finding with important prognostic implications.

简介:脉络膜黑色素瘤是最常见的原发性眼内恶性肿瘤,其诊断和治疗具有挑战性,特别是当其伴有眼外延伸和神经周围浸润等异常特征时。病例介绍:我们报告一例45岁的白人男性,他最初表现为左侧视力丧失、听力缺陷和类似视网膜脱离的症状。影像显示一个高反射的玻璃体肿块,但由于复杂的MRI发现,明确的诊断被推迟,这提示出血过程,没有明确的恶性肿瘤证据。病人的症状迅速恶化,导致左眼摘除。组织病理学证实坏死性脉络膜黑色素瘤伴眼外延伸、视神经头浸润和神经周围浸润,bap1阴性提示预后较差。尽管有这些侵袭性特征,随访影像学未发现远处转移,这是一个值得注意和不寻常的发现。结论:本病例强调了脉络膜黑色素瘤并发炎症和坏死等继发表现时的诊断复杂性。它还强调了多学科管理、及时干预和对高风险病例进行警惕监测的重要性。本病例对脉络膜黑色素瘤伴神经周围浸润的文献有所贡献,这是一种罕见的发现,具有重要的预后意义。
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引用次数: 0
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