Pub Date : 2024-06-06eCollection Date: 2024-01-01DOI: 10.1155/2024/2418888
Muhammad Tahir, Eric X Wei, Carlina Madelaire, Alice S Yu, Guillermo A Herrera, Rodney E Shackelford
Primary mandibular telangiectatic osteosarcomas are very rare lesions, with only nine cases reported. Histologically, these lesions show multiple cystic blood-filled cavities traversed by neoplastic bone in septa lined by high-grade malignant cells. Here, we report an 81-year-old woman who presented with a mandibular mass, which was surgically resected and analyzed by histologic examination and whole exome DNA sequencing. A diagnosis of telangiectatic osteosarcoma was given. Comparative sequencing data analysis of paired benign and tumor DNA revealed 1577 variants unique to the tumor DNA, which clustered into several gene families, including those regulating DNA repair and apoptosis. Comparison of benign and tumor DNA revealed many shared gene polymorphisms associated with an increased cancer risk. These included polymorphisms in the ATM, p53, BRCA1, and BRCA2 and many other genes. Interestingly, the patient's family history showed an unusually high cancer incidence, likely related to these cancer risk-associated polymorphisms. To our knowledge, this is the first-time sequencing applied to a mandibular telangiectatic osteosarcoma. Our findings may shed light on the molecular origins of these rare tumors and how they may relate to other tumors in related kindreds.
原发性下颌骨毛细血管扩张性骨肉瘤是一种非常罕见的病变，目前仅有九例报道。组织学上，这些病变表现为多发性囊性充血腔，由高级别恶性细胞内衬的隔膜中的肿瘤骨穿过。在此，我们报告了一名 81 岁女性的下颌骨肿块病例，该肿块经手术切除，并通过组织学检查和全外显子组 DNA 测序进行了分析。诊断结果为毛细血管扩张性骨肉瘤。对配对的良性和肿瘤DNA进行比较测序数据分析后发现，肿瘤DNA中存在1577个独特的变异，这些变异聚集在多个基因家族中，其中包括调控DNA修复和细胞凋亡的基因。良性和肿瘤DNA的比较发现了许多与癌症风险增加有关的共有基因多态性。这些基因包括 ATM、p53、BRCA1 和 BRCA2 以及许多其他基因的多态性。有趣的是，患者的家族史显示其癌症发病率异常高，这很可能与这些癌症风险相关多态性有关。据我们所知，这是首次对下颌骨毛细血管扩张性骨肉瘤进行测序。我们的研究结果可能会揭示这些罕见肿瘤的分子起源，以及它们与相关血统中其他肿瘤的关系。
{"title":"A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report.","authors":"Muhammad Tahir, Eric X Wei, Carlina Madelaire, Alice S Yu, Guillermo A Herrera, Rodney E Shackelford","doi":"10.1155/2024/2418888","DOIUrl":"10.1155/2024/2418888","url":null,"abstract":"<p><p>Primary mandibular telangiectatic osteosarcomas are very rare lesions, with only nine cases reported. Histologically, these lesions show multiple cystic blood-filled cavities traversed by neoplastic bone in septa lined by high-grade malignant cells. Here, we report an 81-year-old woman who presented with a mandibular mass, which was surgically resected and analyzed by histologic examination and whole exome DNA sequencing. A diagnosis of telangiectatic osteosarcoma was given. Comparative sequencing data analysis of paired benign and tumor DNA revealed 1577 variants unique to the tumor DNA, which clustered into several gene families, including those regulating DNA repair and apoptosis. Comparison of benign and tumor DNA revealed many shared gene polymorphisms associated with an increased cancer risk. These included polymorphisms in the ATM, p53, BRCA1, and BRCA2 and many other genes. Interestingly, the patient's family history showed an unusually high cancer incidence, likely related to these cancer risk-associated polymorphisms. To our knowledge, this is the first-time sequencing applied to a mandibular telangiectatic osteosarcoma. Our findings may shed light on the molecular origins of these rare tumors and how they may relate to other tumors in related kindreds.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11221979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497156","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}
Large cell neuroendocrine carcinoma (LCNEC) constitutes a rare subset of highly undifferentiated malignancies known for their aggressive nature. Although these tumors commonly originate in the lungs and gastrointestinal tract, their potential occurrence is not restricted to specific anatomical sites, giving rise to a variety of symptoms. Notably, cases of neuroendocrine tumors (NETs) with an unidentified primary source exhibit a graver prognosis and shorter survival periods compared to those with clearly identified origins. NETs frequently demonstrate a propensity to metastasize, spreading to diverse anatomical regions such as the liver, lungs, lymph nodes, and bones, illustrating their aggressive nature and the complexity of their management. In this context, we present the case of a 59-year-old male who sought medical attention in the emergency department due to right upper quadrant (RUQ) abdominal pain. Initial diagnostic assessments revealed significantly elevated liver function tests and severe hypercalcemia. A right upper quadrant ultrasound (RUQ US) was subsequently performed, which revealed heterogeneous hepatic echotexture with innumerable echogenic masses, suggesting a metastatic process. A computed tomography (CT) scan was then ordered to evaluate further the RUQ US findings, which showed numerous hypovascular liver masses, raising concerns of malignancy. A liver biopsy confirmed a diagnosis of LCNEC with an unidentified primary source.
大细胞神经内分泌癌（LCNEC）是一种罕见的高度未分化恶性肿瘤，以其侵袭性而闻名。虽然这些肿瘤通常起源于肺部和胃肠道，但其潜在的发病部位并不局限于特定的解剖部位，还会引起各种症状。值得注意的是，原发来源不明的神经内分泌肿瘤（NET）与来源明确的肿瘤相比，预后更差，存活期更短。神经内分泌肿瘤经常表现出转移倾向，扩散到不同的解剖区域，如肝脏、肺部、淋巴结和骨骼，这说明了其侵袭性和治疗的复杂性。在此背景下，我们介绍了一例因右上腹疼痛而到急诊科就诊的 59 岁男性病例。初步诊断评估显示，患者肝功能检查结果明显升高，并伴有严重的高钙血症。随后进行了右上腹超声检查（RUQ US），结果显示肝脏回声纹理不均匀，伴有无数回声性肿块，提示有转移过程。为了进一步评估 RUQ US 的检查结果，患者接受了计算机断层扫描 (CT)，结果显示肝脏有许多血管下肿块，这引起了患者对恶性肿瘤的担忧。肝脏活检确诊为原发来源不明的 LCNEC。
{"title":"Hypercalcemia and Bone Metastasis in a Case of Large Cell Neuroendocrine Carcinoma With Unknown Primary","authors":"Ekrem Yetiskul, Jordyn Salak, Fatema Arafa, Alaukika Agarwal, Amanda Matra, Muhammad Niazi, Marcel Odaimi","doi":"10.1155/2024/8792291","DOIUrl":"https://doi.org/10.1155/2024/8792291","url":null,"abstract":"Large cell neuroendocrine carcinoma (LCNEC) constitutes a rare subset of highly undifferentiated malignancies known for their aggressive nature. Although these tumors commonly originate in the lungs and gastrointestinal tract, their potential occurrence is not restricted to specific anatomical sites, giving rise to a variety of symptoms. Notably, cases of neuroendocrine tumors (NETs) with an unidentified primary source exhibit a graver prognosis and shorter survival periods compared to those with clearly identified origins. NETs frequently demonstrate a propensity to metastasize, spreading to diverse anatomical regions such as the liver, lungs, lymph nodes, and bones, illustrating their aggressive nature and the complexity of their management. In this context, we present the case of a 59-year-old male who sought medical attention in the emergency department due to right upper quadrant (RUQ) abdominal pain. Initial diagnostic assessments revealed significantly elevated liver function tests and severe hypercalcemia. A right upper quadrant ultrasound (RUQ US) was subsequently performed, which revealed heterogeneous hepatic echotexture with innumerable echogenic masses, suggesting a metastatic process. A computed tomography (CT) scan was then ordered to evaluate further the RUQ US findings, which showed numerous hypovascular liver masses, raising concerns of malignancy. A liver biopsy confirmed a diagnosis of LCNEC with an unidentified primary source.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141113800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Myelolipoma is a kind of benign lipoma containing myeloid cells. It is a rare type of tumor that typically presents as an occasional adrenal tumor, generally manifesting as a nonfunctional adrenal mass. Although it can occur in extra-adrenal tissues, its occurrence in bone tissue is extremely rare. Most cases are discovered accidentally during physical examinations of adults, and there are currently no reports of cases with pathological fractures as the main symptoms. We present a case of a 15-year-old teenager who developed a pathological fracture caused by femoral myelolipoma. The diagnosis of the specific type of bone tumor of the patient was determined through pathology and imaging. To treat the condition, we utilized a technique known as the “soft drill” to fully access the tumor space, remove the bone septum, and scrape away the diseased tissue. The fracture was then stabilized using a hybrid external fixation. After a 2-year follow-up period, there was no recurrence of the bone tumor. This case is the first case of intraosseous myelolipoma that occurred in a minor with the initial symptom of pathological fracture, filling the gap in our existing body of knowledge and providing a reference for the treatment of this type of intraosseous myelolipoma.
{"title":"Malicious Tumor? Pathological Fracture of the Femur in Children Caused by Myelolipoma: A Case Report and Review of Literatures","authors":"Xiaoyu Shen, Qiang Yao, Xiangbei Qi, Lijie Ma","doi":"10.1155/2024/5838618","DOIUrl":"https://doi.org/10.1155/2024/5838618","url":null,"abstract":"Myelolipoma is a kind of benign lipoma containing myeloid cells. It is a rare type of tumor that typically presents as an occasional adrenal tumor, generally manifesting as a nonfunctional adrenal mass. Although it can occur in extra-adrenal tissues, its occurrence in bone tissue is extremely rare. Most cases are discovered accidentally during physical examinations of adults, and there are currently no reports of cases with pathological fractures as the main symptoms. We present a case of a 15-year-old teenager who developed a pathological fracture caused by femoral myelolipoma. The diagnosis of the specific type of bone tumor of the patient was determined through pathology and imaging. To treat the condition, we utilized a technique known as the “soft drill” to fully access the tumor space, remove the bone septum, and scrape away the diseased tissue. The fracture was then stabilized using a hybrid external fixation. After a 2-year follow-up period, there was no recurrence of the bone tumor. This case is the first case of intraosseous myelolipoma that occurred in a minor with the initial symptom of pathological fracture, filling the gap in our existing body of knowledge and providing a reference for the treatment of this type of intraosseous myelolipoma.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140972317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Delayed migration and exposure of embolic coils is a rare complication of endovascular therapy for carotid blowout syndrome.Methods: A 64-year-old man with recurrent tongue cancer noticed the presence of foreign body in the malignant wound on the right side of his neck. He had undergone transarterial embolization on his right vertebral artery, right common carotid artery (CCA), and internal carotid artery (ICA) for carotid blowout syndrome 1 month prior. On physical examination, exposed spring-like metallic coils were observed, covered in brownish granulation tissue, at the bottom of the malignant wound. Neck radiograph and computed tomography confirmed the extrusion and migration of the embolic coils.Results: In this case, the patient was managed by transection of the exposed coils at the wound surface with close monitoring.Conclusions: Computed tomography angiography is essential for assessing the condition of the remaining embolic coils. In cases with thrombosed parent arteries, a conservative approach, like the transection of exposed coils, can be employed as part of the management strategy.
{"title":"Exposed Embolic Coils Observed in a 64-Year-Old Male With Head and Neck Cancer Following Transarterial Embolization for Carotid Blowout Syndrome","authors":"Jia-Zheng Huang, Wei-Chen Lu, Bo-Ching Lee","doi":"10.1155/2024/7925511","DOIUrl":"https://doi.org/10.1155/2024/7925511","url":null,"abstract":"Background: Delayed migration and exposure of embolic coils is a rare complication of endovascular therapy for carotid blowout syndrome.Methods: A 64-year-old man with recurrent tongue cancer noticed the presence of foreign body in the malignant wound on the right side of his neck. He had undergone transarterial embolization on his right vertebral artery, right common carotid artery (CCA), and internal carotid artery (ICA) for carotid blowout syndrome 1 month prior. On physical examination, exposed spring-like metallic coils were observed, covered in brownish granulation tissue, at the bottom of the malignant wound. Neck radiograph and computed tomography confirmed the extrusion and migration of the embolic coils.Results: In this case, the patient was managed by transection of the exposed coils at the wound surface with close monitoring.Conclusions: Computed tomography angiography is essential for assessing the condition of the remaining embolic coils. In cases with thrombosed parent arteries, a conservative approach, like the transection of exposed coils, can be employed as part of the management strategy.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140982782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dejan Stojiljković, Ana Cvetković, Andrej Jokić, Dijana Mirčić, Sanja Mihajlović, A. Krivokuca, Marija Đorđić Crnogorac, Lazar Glisic
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient's treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.
{"title":"Li-Fraumeni Syndrome With Six Primary Tumors—Case Report","authors":"Dejan Stojiljković, Ana Cvetković, Andrej Jokić, Dijana Mirčić, Sanja Mihajlović, A. Krivokuca, Marija Đorđić Crnogorac, Lazar Glisic","doi":"10.1155/2024/6699698","DOIUrl":"https://doi.org/10.1155/2024/6699698","url":null,"abstract":"Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient's treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140993159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Schwannoma in the popliteal fossa is still rare, often diagnosed late because it grows slowly and has no symptoms. It is often misdiagnosed with connective tissue tumors or with neurological disorders originating in the spine or disorders of the peroneal nerve. Schwannoma within the common peroneal nerve is still rare in the popliteal fossa, with most tumor sizes around 2 cm in diameter due to their smaller size of nerve but can cause neurologic disturbance, especially when it is large. And over a long time, it can cause serious complaints like neurological deficits and make surgery difficult by leaving greater sequelae. There is no data yet showing the incidence of schwannoma in the common peroneal nerve. In this case, a 36-year-old woman, for 5 years, feels soreness in the popliteal fossa and pain in the right instep, suspected that a nerve was pinched, due to an abnormality in the spine. As time went on, there was a lump in the fold of the right knee, suspected to be a Baker’s cyst. As time went by, the complaint was burning pain in the right instep to the lateral ankle and distal right lower leg, disturbing sleep. Tinel’s sign was positive. The right instep has hypoesthesia and a slight drop in the foot. On radiological examination of the right knee, a circumferential mass appeared, measuring 5 cm×4 cm. The diagnosis is suspicious for a common peroneal nerve tumor. The encapsulated operation to remove the tumor was carried out with a size measuring 5 cm×4.5 cm×4 cm. The histopathological examination showed schwannoma. After surgery, the pain disappeared, hypoesthesia and a slight drop in the foot underwent physiotherapy, and stimulation with the result gradually improved. A thorough early examination includes correct and systematic anamnesis, physical examination, and neurological evaluation such as paraesthesia, hypoesthesia, and Tinel’s sign; also, additional examinations, such as radiographic, ultrasound, and MRI, are needed for early detection of schwannoma so that delays in diagnosis and surgery can be avoided to prevent neurological deficits.
{"title":"The Rare Large Common Peroneal Nerve’s Schwannoma—A Case Report and Literature Review","authors":"Rudiansyah Harahap, Nurmaliannysa Dwinandia Harahap","doi":"10.1155/2024/9397436","DOIUrl":"https://doi.org/10.1155/2024/9397436","url":null,"abstract":"Schwannoma in the popliteal fossa is still rare, often diagnosed late because it grows slowly and has no symptoms. It is often misdiagnosed with connective tissue tumors or with neurological disorders originating in the spine or disorders of the peroneal nerve. Schwannoma within the common peroneal nerve is still rare in the popliteal fossa, with most tumor sizes around 2 cm in diameter due to their smaller size of nerve but can cause neurologic disturbance, especially when it is large. And over a long time, it can cause serious complaints like neurological deficits and make surgery difficult by leaving greater sequelae. There is no data yet showing the incidence of schwannoma in the common peroneal nerve. In this case, a 36-year-old woman, for 5 years, feels soreness in the popliteal fossa and pain in the right instep, suspected that a nerve was pinched, due to an abnormality in the spine. As time went on, there was a lump in the fold of the right knee, suspected to be a Baker’s cyst. As time went by, the complaint was burning pain in the right instep to the lateral ankle and distal right lower leg, disturbing sleep. Tinel’s sign was positive. The right instep has hypoesthesia and a slight drop in the foot. On radiological examination of the right knee, a circumferential mass appeared, measuring 5 cm×4 cm. The diagnosis is suspicious for a common peroneal nerve tumor. The encapsulated operation to remove the tumor was carried out with a size measuring 5 cm×4.5 cm×4 cm. The histopathological examination showed schwannoma. After surgery, the pain disappeared, hypoesthesia and a slight drop in the foot underwent physiotherapy, and stimulation with the result gradually improved. A thorough early examination includes correct and systematic anamnesis, physical examination, and neurological evaluation such as paraesthesia, hypoesthesia, and Tinel’s sign; also, additional examinations, such as radiographic, ultrasound, and MRI, are needed for early detection of schwannoma so that delays in diagnosis and surgery can be avoided to prevent neurological deficits.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141020983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-26eCollection Date: 2024-01-01DOI: 10.1155/2024/2025115
Sean McCormack, Eyad Hamad, Amar Hamad
Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system. These tumors are commonly found in the adrenal medulla but can also occur in other locations outside the adrenal gland. Here, we present a case report of a slow-growing paraganglioma in the left neck with spinal metastasis in a 60-year-old man. This case highlights the importance of considering paraganglion tumors in the differential diagnosis of neck masses and the need for early diagnosis and management to prevent potential complications. Importantly, both the clinical picture and anatomical location of these tumors is important when determining treatment plans.
{"title":"Paraganglioma of the Neck: A Rare Case With Spinal Metastasis.","authors":"Sean McCormack, Eyad Hamad, Amar Hamad","doi":"10.1155/2024/2025115","DOIUrl":"https://doi.org/10.1155/2024/2025115","url":null,"abstract":"<p><p>Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system. These tumors are commonly found in the adrenal medulla but can also occur in other locations outside the adrenal gland. Here, we present a case report of a slow-growing paraganglioma in the left neck with spinal metastasis in a 60-year-old man. This case highlights the importance of considering paraganglion tumors in the differential diagnosis of neck masses and the need for early diagnosis and management to prevent potential complications. Importantly, both the clinical picture and anatomical location of these tumors is important when determining treatment plans.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11068453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860040","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 : 2024-04-26eCollection Date: 2024-01-01DOI: 10.1155/2024/6645278
Wesley Q Zhang, Emily E Hecox, Shireen Dogar, Marc E Walker
Background: Though mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma (CTCL), it has no curative treatment. The aim of current topical and systemic treatment is centered around relieving symptoms and optimizing disease-free time. The use of surgical management to achieve the same goals of symptomatic reduction is not well described in the current literature. Methods: We present a case of refractory MF that failed chemotherapy, radiotherapy, and UV light therapy. Despite medical management, the tumor burden progressed to significant compression neuropathy of the ulnar and median nerves. Results: To reduce tumor burden and attempt to provide symptomatic relief, a surgical plan was developed to include radical resection of the tumor of the left upper extremity (LUE) with release of the cubital tunnel, carpal tunnel, Guyon canal, and coverage with split-thickness skin graft. The patient reported decreased symptomatology interfering with her daily activities and, overall, a better quality of life postoperatively. Conclusion: Surgical intervention, in addition to established medical standards of care, for symptomatic relief of compression neuropathy from tumor mass effect for refractory CTCL should be considered to achieve quality of life goals for patients.
背景：尽管真菌病（MF）是皮肤 T 细胞淋巴瘤（CTCL）中最常见的类型，但目前尚无根治性治疗方法。目前局部和全身治疗的目的主要是缓解症状和延长无病生存时间。目前的文献还没有很好地描述如何使用手术治疗来达到同样的减轻症状的目的。方法：我们介绍了一例化疗、放疗和紫外线治疗失败的难治性中耳炎患者。尽管进行了药物治疗，但肿瘤负担仍发展为尺神经和正中神经的严重压迫性神经病变。结果：为了减轻肿瘤负担并缓解症状，医生制定了手术方案，包括对左上肢（LUE）肿瘤进行根治性切除，同时松解肘隧道、腕隧道和Guyon管，并用分层厚皮移植术进行覆盖。患者表示，术后影响日常活动的症状有所减轻，总体生活质量也有所提高。结论对于难治性 CTCL，除了既定的医疗标准外，还应考虑通过手术干预来缓解肿瘤肿块效应引起的压迫性神经病变症状，以实现患者的生活质量目标。
{"title":"The Role of Surgery to Relieve Symptomatic Cutaneous T-Cell Lymphoma Refractory to Medical Treatments.","authors":"Wesley Q Zhang, Emily E Hecox, Shireen Dogar, Marc E Walker","doi":"10.1155/2024/6645278","DOIUrl":"https://doi.org/10.1155/2024/6645278","url":null,"abstract":"<p><p><b>Background:</b> Though mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma (CTCL), it has no curative treatment. The aim of current topical and systemic treatment is centered around relieving symptoms and optimizing disease-free time. The use of surgical management to achieve the same goals of symptomatic reduction is not well described in the current literature. <b>Methods:</b> We present a case of refractory MF that failed chemotherapy, radiotherapy, and UV light therapy. Despite medical management, the tumor burden progressed to significant compression neuropathy of the ulnar and median nerves. <b>Results:</b> To reduce tumor burden and attempt to provide symptomatic relief, a surgical plan was developed to include radical resection of the tumor of the left upper extremity (LUE) with release of the cubital tunnel, carpal tunnel, Guyon canal, and coverage with split-thickness skin graft. The patient reported decreased symptomatology interfering with her daily activities and, overall, a better quality of life postoperatively. <b>Conclusion:</b> Surgical intervention, in addition to established medical standards of care, for symptomatic relief of compression neuropathy from tumor mass effect for refractory CTCL should be considered to achieve quality of life goals for patients.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11068446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Immune checkpoint inhibitors (ICIs) are a group of drugs that have improved outcomes for patients with various cancers. Generally considered safe and well tolerated, these drugs are occasionally linked to immune-mediated or immune-related adverse events. Among these, autoimmune neurological events are rare, displaying varying incidence rates across different studies. Peripheral neuropathy, although one of the more common neurological immune-related events, is at times underestimated. This case report highlights an adult patient diagnosed with metastatic intrahepatic cholangiocarcinoma. Initially, the patient underwent chemoimmunotherapy with gemcitabine, cisplatin, and durvalumab for eight cycles, achieving partial response without significant toxicity. Following this, the patient continued with maintenance monotherapy with durvalumab every 28 days. After completing six cycles of maintenance therapy, the patient suddenly experienced paresthesia and hypoesthesia in four limbs, accompanied by apraxia in the hands that was more pronounced on the right side. Additionally, the patient reported neuropathic pain in the right arm and encountered limitations in certain instrumental activities of daily living. Diagnostic studies, including laboratory and electrophysiological studies, combined with the clinical presentation, identified immune-related peripheral polyneuropathy. Durvalumab was suspended and prednisolone therapy was initiated, resulting in a rapid resolution of all neuropathic symptoms. In addition to the clinical case, this article reviews the literature on immunotherapy-associated peripheral neuropathy.
{"title":"Immune-Related Peripheral Neuropathy Associated with Immune Checkpoint Inhibitors: Case Report and Review of Literature","authors":"C. Bonilla, Vaneza Ávila","doi":"10.1155/2024/8212943","DOIUrl":"https://doi.org/10.1155/2024/8212943","url":null,"abstract":"Immune checkpoint inhibitors (ICIs) are a group of drugs that have improved outcomes for patients with various cancers. Generally considered safe and well tolerated, these drugs are occasionally linked to immune-mediated or immune-related adverse events. Among these, autoimmune neurological events are rare, displaying varying incidence rates across different studies. Peripheral neuropathy, although one of the more common neurological immune-related events, is at times underestimated. This case report highlights an adult patient diagnosed with metastatic intrahepatic cholangiocarcinoma. Initially, the patient underwent chemoimmunotherapy with gemcitabine, cisplatin, and durvalumab for eight cycles, achieving partial response without significant toxicity. Following this, the patient continued with maintenance monotherapy with durvalumab every 28 days. After completing six cycles of maintenance therapy, the patient suddenly experienced paresthesia and hypoesthesia in four limbs, accompanied by apraxia in the hands that was more pronounced on the right side. Additionally, the patient reported neuropathic pain in the right arm and encountered limitations in certain instrumental activities of daily living. Diagnostic studies, including laboratory and electrophysiological studies, combined with the clinical presentation, identified immune-related peripheral polyneuropathy. Durvalumab was suspended and prednisolone therapy was initiated, resulting in a rapid resolution of all neuropathic symptoms. In addition to the clinical case, this article reviews the literature on immunotherapy-associated peripheral neuropathy.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140752611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amine El Khassoui, Mariem Touraif, Driss Tahiri, E. Aghoutane, T. Salama, R. El Fezzazi
Aneurysmal bone cysts are defined as benign lesions. They expose the patients to a higher risk of pathological fractures. The typical clinical and radiological aspects of the tumor usually do not require a pathological confirmation before a definite treatment. However, in some cases, a malignant tumor will have the same clinical and radiological characteristics of a begin lesion. Our case highlights this fact. We present a case of a 13-year-old patient that presented to us with a pathological fracture. The X-ray and CT scan were in favor of ABC; however, the postoperative pathology revealed an Ewing sarcoma. A salvage treatment became mandatory after this finding but was refused by the parents, resulting in the death of the patient 6 months later. A biopsy must be mandatory each time we have a suspicious aneurysmal bone cyst even with typical clinical and radiological characteristics before starting a treatment plan.
{"title":"Ewing's Sarcoma Disguised as Aneurysmal Bone Cyst Lesion: About a Case","authors":"Amine El Khassoui, Mariem Touraif, Driss Tahiri, E. Aghoutane, T. Salama, R. El Fezzazi","doi":"10.1155/2024/3549689","DOIUrl":"https://doi.org/10.1155/2024/3549689","url":null,"abstract":"Aneurysmal bone cysts are defined as benign lesions. They expose the patients to a higher risk of pathological fractures. The typical clinical and radiological aspects of the tumor usually do not require a pathological confirmation before a definite treatment. However, in some cases, a malignant tumor will have the same clinical and radiological characteristics of a begin lesion. Our case highlights this fact. We present a case of a 13-year-old patient that presented to us with a pathological fracture. The X-ray and CT scan were in favor of ABC; however, the postoperative pathology revealed an Ewing sarcoma. A salvage treatment became mandatory after this finding but was refused by the parents, resulting in the death of the patient 6 months later. A biopsy must be mandatory each time we have a suspicious aneurysmal bone cyst even with typical clinical and radiological characteristics before starting a treatment plan.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140755475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号