Pub Date : 2025-09-26eCollection Date: 2025-01-01DOI: 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.
{"title":"Sequential Diagnosis of Metastatic Breast Cancer and Follicular Lymphoma in a Postmenopausal Woman: Navigating Endocrine and Cytotoxic Therapies in a Complex Oncologic Setting.","authors":"Hye Sook Kim, Sunhee Chang, Jae Il Kim, Hye Ryeong Kwon","doi":"10.1159/000548616","DOIUrl":"10.1159/000548616","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1478-1487"},"PeriodicalIF":0.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647552","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 : 2025-09-26eCollection Date: 2025-01-01DOI: 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.
{"title":"Metastatic Epstein-Barr Virus-Associated Lymphoepithelioma-Like Carcinoma of Small Bowel Origin.","authors":"Jacqueline J Tao, Hanina Hibshoosh, Stephen M Lagana, Fiyinfolu Balogun, Ruth A White","doi":"10.1159/000548676","DOIUrl":"10.1159/000548676","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1439-1446"},"PeriodicalIF":0.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647485","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 : 2025-09-24eCollection Date: 2025-01-01DOI: 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.
{"title":"A Long-Term Survival Case Report of a Patient with Pulmonary Sarcomatoid Carcinoma Accompanied by Brain Metastasis: Implications for Immunotherapy.","authors":"Yulu Ouyang, Tao Peng","doi":"10.1159/000548576","DOIUrl":"10.1159/000548576","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>For patients with PSC, genetic testing is necessary. The efficacy of immunotherapy in patients with PSC is worthy of expectation.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1432-1438"},"PeriodicalIF":0.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647337","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}
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.
{"title":"Spontaneous Massive Retroperitoneal Hematoma: A Rare Complication of Anticoagulation after Stenting in Malignant Superior Vena Cava Syndrome.","authors":"Debanjan Nandi, Saurabh Raj, Sanjeev Kumar, Amarinder Singh, Rudrakshi Mahaldar","doi":"10.1159/000548600","DOIUrl":"10.1159/000548600","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1403-1409"},"PeriodicalIF":0.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647548","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 : 2025-09-24eCollection Date: 2025-01-01DOI: 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.
{"title":"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.","authors":"Junmei Zhang, Xuezheng Wang, Yan Xue","doi":"10.1159/000548575","DOIUrl":"10.1159/000548575","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1447-1456"},"PeriodicalIF":0.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647550","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 : 2025-09-23eCollection Date: 2025-01-01DOI: 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.
{"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}
Pub Date : 2025-09-22eCollection Date: 2025-01-01DOI: 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.
{"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}
Pub Date : 2025-09-20eCollection Date: 2025-01-01DOI: 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.
{"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}
Pub Date : 2025-09-20eCollection Date: 2025-01-01DOI: 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.
{"title":"Right Atrial Myxoma in a Young Patient with a DSG-2 Genetic Mutation: A Case Report.","authors":"Samuel Paul Attard, Joseph Galea","doi":"10.1159/000548558","DOIUrl":"10.1159/000548558","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1386-1392"},"PeriodicalIF":0.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12558662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145387326","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 : 2025-09-20eCollection Date: 2025-01-01DOI: 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.
{"title":"Beyond the Eye: A Unique Case of Choroidal Melanoma with Extra-Ocular Extension.","authors":"Juned Islam, Dost Jabarkhyl, Haseeb Qureshi, Sepideh Amin, Ali Hassan","doi":"10.1159/000548574","DOIUrl":"10.1159/000548574","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1410-1418"},"PeriodicalIF":0.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647451","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}