Pediatric chronic myeloid leukemia (pCML) is a rare malignancy accounting for only 2%-3% of all childhood leukemias. Due to this rarity, familiarity with pCML is limited among most pediatric practitioners, including even pediatric hemato-oncologists. In low- and middle-income countries (LMICs), limited financial resources and limited data specific to pCML represent obstacles that healthcare providers must face in diagnosing and treating this rare condition in children. The International CML Foundation (iCMLf) is improving outcomes for people with CML in these countries where resources, diagnostics, and access to medicines may be limited (https://www.cml-foundation.org/lmic-programs.html). Virtual meetings with the purpose of teaching participating pediatricians from LMICs of defined geographical regions were organised by the iCMLf in 2023. At a virtual meeting of the South Asia region, the case of a 14-year-old Indian boy was presented diagnosed with CML in a chronic phase complicated by priapism and loss of vision in his left eye due to hyperleukocytosis. Key aspects of this case are discussed in-depth from the perspective of (i) a pediatric hemato-oncologist practicing in a high-income country, (ii) a pediatric hemato-oncologist practicing in a LMIC, (iii) an adult CML hematologist, and (iv) from the iCMLf in improving the care of children with CML worldwide. Thus by discussing a multifaceted complicated case of pCML in written form as well as pointing to the pediatric module of the iCMLf Knowledge Centre will hopefully contribute to minimize existing knowledge gaps in a rare pediatric malignancy.
{"title":"Cases of Patients Treated in Countries With Limited Resources and Discussed by Experts of the International CML Foundation (iCMLf)-Case No. 1: A Boy Presenting With Priapism and Loss of Vision.","authors":"Nirmalya Roy Moulik, Arlene Harriss-Buchan, Guiseppe Saglio, Nicola Evans, Meinolf Suttorp","doi":"10.1155/2024/5534445","DOIUrl":"10.1155/2024/5534445","url":null,"abstract":"<p><p>Pediatric chronic myeloid leukemia (pCML) is a rare malignancy accounting for only 2%-3% of all childhood leukemias. Due to this rarity, familiarity with pCML is limited among most pediatric practitioners, including even pediatric hemato-oncologists. In low- and middle-income countries (LMICs), limited financial resources and limited data specific to pCML represent obstacles that healthcare providers must face in diagnosing and treating this rare condition in children. The International CML Foundation (iCMLf) is improving outcomes for people with CML in these countries where resources, diagnostics, and access to medicines may be limited (https://www.cml-foundation.org/lmic-programs.html). Virtual meetings with the purpose of teaching participating pediatricians from LMICs of defined geographical regions were organised by the iCMLf in 2023. At a virtual meeting of the South Asia region, the case of a 14-year-old Indian boy was presented diagnosed with CML in a chronic phase complicated by priapism and loss of vision in his left eye due to hyperleukocytosis. Key aspects of this case are discussed in-depth from the perspective of (i) a pediatric hemato-oncologist practicing in a high-income country, (ii) a pediatric hemato-oncologist practicing in a LMIC, (iii) an adult CML hematologist, and (iv) from the iCMLf in improving the care of children with CML worldwide. Thus by discussing a multifaceted complicated case of pCML in written form as well as pointing to the pediatric module of the iCMLf Knowledge Centre will hopefully contribute to minimize existing knowledge gaps in a rare pediatric malignancy.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"5534445"},"PeriodicalIF":0.6,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141892981","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 : 2024-06-06eCollection 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":"2024 ","pages":"2418888"},"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}
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":"2024 ","pages":"2025115"},"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":"2024 ","pages":"6645278"},"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 have drastically improved cancer treatment. However, they may induce immune-related adverse events (irAEs). Here, we report a case of significantly delayed rheumatic irAEs (Rh-irAEs) with prior possible temporary neutropenic irAEs in a patient with atezolizumab-treated non-small-cell lung cancer and its management. A man in his sixties received atezolizumab monotherapy as the sixth-line treatment. He experienced an infusion-related reaction (fever) during the first cycle. On day 22 of cycle 2, grade 4 neutropenia suddenly appeared, but it disappeared on the next day. Cycle 3 was initiated after seven days; the patient did not exhibit any symptoms for approximately 500 days. However, on day 534 (day 1 of cycle 21), the patient complained of pain in the shoulders, back, and wrists. On day 644, the shoulder and back pain worsened with obvious swelling of the fingers. We thus suspended treatment and consulted a rheumatologist. A diagnosis of polyarthritis with active tenosynovitis was made based on joint ultrasound and laboratory tests. Prednisolone 15 mg attenuated the symptoms, allowing suspension of analgesics; however, dose reduction from 15 mg/day was difficult because of symptom flares. Finally, iguratimod 25 mg twice daily was initiated on day 764; prednisolone was reduced to 10 mg without flares, and its dosage was slowly reduced to 5 mg/day. Although irAEs exhibit multisystem features, delayed development of polyarthritis with active tenosynovitis after possible temporary neutropenic irAEs is rare. Thus, irAEs need to be monitored for a long time in patients with suspected irAE development even if it appears transiently.
{"title":"Significantly Delayed Development of Polyarthritis with Active Tenosynovitis after Possible Temporary Neutropenic Immune-Related Adverse Events Caused by Atezolizumab Treatment: A Novel Case Report.","authors":"Yoshitaka Saito, Yoh Takekuma, Hajime Asahina, Ryo Hisada, Mitsuru Sugawara","doi":"10.1155/2024/1566299","DOIUrl":"10.1155/2024/1566299","url":null,"abstract":"<p><p>Immune checkpoint inhibitors have drastically improved cancer treatment. However, they may induce immune-related adverse events (irAEs). Here, we report a case of significantly delayed rheumatic irAEs (Rh-irAEs) with prior possible temporary neutropenic irAEs in a patient with atezolizumab-treated non-small-cell lung cancer and its management. A man in his sixties received atezolizumab monotherapy as the sixth-line treatment. He experienced an infusion-related reaction (fever) during the first cycle. On day 22 of cycle 2, grade 4 neutropenia suddenly appeared, but it disappeared on the next day. Cycle 3 was initiated after seven days; the patient did not exhibit any symptoms for approximately 500 days. However, on day 534 (day 1 of cycle 21), the patient complained of pain in the shoulders, back, and wrists. On day 644, the shoulder and back pain worsened with obvious swelling of the fingers. We thus suspended treatment and consulted a rheumatologist. A diagnosis of polyarthritis with active tenosynovitis was made based on joint ultrasound and laboratory tests. Prednisolone 15 mg attenuated the symptoms, allowing suspension of analgesics; however, dose reduction from 15 mg/day was difficult because of symptom flares. Finally, iguratimod 25 mg twice daily was initiated on day 764; prednisolone was reduced to 10 mg without flares, and its dosage was slowly reduced to 5 mg/day. Although irAEs exhibit multisystem features, delayed development of polyarthritis with active tenosynovitis after possible temporary neutropenic irAEs is rare. Thus, irAEs need to be monitored for a long time in patients with suspected irAE development even if it appears transiently.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"1566299"},"PeriodicalIF":0.9,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10869192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740471","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}
Lingling Xian, Rachel Hunter, Emily Smith, Rasha Mohammed, C. Madelaire, Guillermo A. Herrera, Rodney E. Shackelford
Metastatic disease to the breast is a rare event, accounting for 0.5-2% of all breast cancers. Outside of metastases from the contralateral breast, malignant ovarian epithelial tumors are the most common origin of these metastases. Here, we present a very rare case of a high-grade ovarian serous adenocarcinoma presenting clinically as inflammatory breast cancer in a 70-year-old woman.
{"title":"Metastatic Ovarian Serous Adenocarcinoma Clinically Presenting as Inflammatory Breast Cancer","authors":"Lingling Xian, Rachel Hunter, Emily Smith, Rasha Mohammed, C. Madelaire, Guillermo A. Herrera, Rodney E. Shackelford","doi":"10.1155/2024/4756335","DOIUrl":"https://doi.org/10.1155/2024/4756335","url":null,"abstract":"Metastatic disease to the breast is a rare event, accounting for 0.5-2% of all breast cancers. Outside of metastases from the contralateral breast, malignant ovarian epithelial tumors are the most common origin of these metastases. Here, we present a very rare case of a high-grade ovarian serous adenocarcinoma presenting clinically as inflammatory breast cancer in a 70-year-old woman.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"6 8","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139439682","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 : 2023-12-26eCollection Date: 2023-01-01DOI: 10.1155/2023/5546323
Samer Salah, Maher A Sughayer, Omar Jaber, Nebras Abu Abed, Fatena Ajlouni, Wisam Al Gargaz, Ramiz Abu Hijlih, Fawzi Abuhijla, Akram Al-Ibraheem, Farah Alul, Walid Naser
Sarcoma with BCOR genetic alteration is an exceptionally rare and emerging subtype of sarcoma. It is categorized into two types: BCOR-related gene fusions such as BCOR::CCNB3 sarcomas and other BCOR-rearranged sarcoma and sarcomas with internal tandem duplication of BCOR genes such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy. BCOR::CCNB3 sarcomas predominantly arise in bone rather than soft tissue and exhibit a higher occurrence in children and adolescent males, whereas sarcomas with BCOR internal tandem duplication show a wider age range but usually arise in the first year of life. Due to their rarity, there is ongoing debate and uncertainty regarding the best treatment approach, with a lack of specific clinical trials addressing these tumors. In this report, we present a unique case of sarcoma with internal tandem duplication of BCOR gene originating in the nasal region. The tumor was successfully and completely resected using the standard VDC-IE chemotherapy protocol, resulting in an unprecedented 100 percent tumor necrosis. The patient has completed the protocol and remains recurrence-free 13 months after diagnosis. This case suggests potential efficacy of the standard VDC-IE protocol in achieving remarkable responses in BCOR rearrangement sarcomas, including the internal tandem duplication subtype. However, further studies are needed to determine the optimal treatment strategies for this disease.
{"title":"A Rare Case of Nasal Sarcoma with BCOR Internal Tandem Duplication Showing Complete Pathologic Response to the VDC-IE Chemotherapy Protocol.","authors":"Samer Salah, Maher A Sughayer, Omar Jaber, Nebras Abu Abed, Fatena Ajlouni, Wisam Al Gargaz, Ramiz Abu Hijlih, Fawzi Abuhijla, Akram Al-Ibraheem, Farah Alul, Walid Naser","doi":"10.1155/2023/5546323","DOIUrl":"10.1155/2023/5546323","url":null,"abstract":"<p><p>Sarcoma with <i>BCOR</i> genetic alteration is an exceptionally rare and emerging subtype of sarcoma. It is categorized into two types: <i>BCOR</i>-related gene fusions such as <i>BCOR::CCNB3</i> sarcomas and other <i>BCOR</i>-rearranged sarcoma and sarcomas with internal tandem duplication of <i>BCOR</i> genes such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy. <i>BCOR::CCNB3</i> sarcomas predominantly arise in bone rather than soft tissue and exhibit a higher occurrence in children and adolescent males, whereas sarcomas with <i>BCOR</i> internal tandem duplication show a wider age range but usually arise in the first year of life. Due to their rarity, there is ongoing debate and uncertainty regarding the best treatment approach, with a lack of specific clinical trials addressing these tumors. In this report, we present a unique case of sarcoma with internal tandem duplication of <i>BCOR</i> gene originating in the nasal region. The tumor was successfully and completely resected using the standard VDC-IE chemotherapy protocol, resulting in an unprecedented 100 percent tumor necrosis. The patient has completed the protocol and remains recurrence-free 13 months after diagnosis. This case suggests potential efficacy of the standard VDC-IE protocol in achieving remarkable responses in <i>BCOR</i> rearrangement sarcomas, including the internal tandem duplication subtype. However, further studies are needed to determine the optimal treatment strategies for this disease.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2023 ","pages":"5546323"},"PeriodicalIF":0.9,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10761225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139089904","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 : 2023-11-23eCollection Date: 2023-01-01DOI: 10.1155/2023/7904950
Florian Carneiro, Marine Bove, Frédérique Beau-Salinas, Tevy San, Pierre Combe
Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare but known and potentially severe side effect of drugs. The recent development of cyclin-dependent kinase 4/6 (CDK4/6) inhibitors, such as ribociclib, has considerably improved the management of hormone receptor positive (HR+) and HER2 negative (HER2-) advanced breast cancer. Here, we present the case of an 83-year-old patient who developed a probable DRESS syndrome induced by ribociclib, presenting with fever, eosinophilia, rash, and hepatic cytolysis. The RegiSCAR score was 4. The symptomatology evolved favorably with topical and systemic corticosteroids, without any sequel. Another CDK4/6 inhibitor, palbociclib, was introduced later without any cross-toxicity and with an excellent therapeutic response for more than 3 years.
{"title":"Case Report of Probable DRESS Syndrome Associated with Ribociclib.","authors":"Florian Carneiro, Marine Bove, Frédérique Beau-Salinas, Tevy San, Pierre Combe","doi":"10.1155/2023/7904950","DOIUrl":"10.1155/2023/7904950","url":null,"abstract":"<p><p>Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare but known and potentially severe side effect of drugs. The recent development of cyclin-dependent kinase 4/6 (CDK4/6) inhibitors, such as ribociclib, has considerably improved the management of hormone receptor positive (HR+) and HER2 negative (HER2-) advanced breast cancer. Here, we present the case of an 83-year-old patient who developed a probable DRESS syndrome induced by ribociclib, presenting with fever, eosinophilia, rash, and hepatic cytolysis. The RegiSCAR score was 4. The symptomatology evolved favorably with topical and systemic corticosteroids, without any sequel. Another CDK4/6 inhibitor, palbociclib, was introduced later without any cross-toxicity and with an excellent therapeutic response for more than 3 years.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2023 ","pages":"7904950"},"PeriodicalIF":0.9,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138476850","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}
Acute myeloid leukemia (AML) with the high-risk variant inv(3)/t(3;3) or t(3;3)(q21;26.2) is rarely seen in the pediatric and young adult population. It is associated with poor outcomes with ineffective therapeutic options. Here, we present a case of an 18-year-old female with treatment refractory inv(3) AML in whom remission was unable to be obtained. Better treatment options are needed given the increased resistance to traditional therapy this subtype portrays. Here, we review the literature on pediatric and young adult inv(3) AML along with newer therapeutic options.
{"title":"Inv(3) Acute Myeloid Leukemia in a Young Adult and Review of the Literature","authors":"Carlee Blakemore, Sudarshawn Damodharan, Diane Puccetti","doi":"10.1155/2023/6628492","DOIUrl":"https://doi.org/10.1155/2023/6628492","url":null,"abstract":"Acute myeloid leukemia (AML) with the high-risk variant inv(3)/t(3;3) or t(3;3)(q21;26.2) is rarely seen in the pediatric and young adult population. It is associated with poor outcomes with ineffective therapeutic options. Here, we present a case of an 18-year-old female with treatment refractory inv(3) AML in whom remission was unable to be obtained. Better treatment options are needed given the increased resistance to traditional therapy this subtype portrays. Here, we review the literature on pediatric and young adult inv(3) AML along with newer therapeutic options.","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"41 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135041975","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}
Paraneoplastic Cushing's syndrome arises when neuroendocrine tumors cause excess glucocorticoid production. We report a case of ectopic ACTH-producing liver neuroendocrine tumor. A 71 y.o. female with a history of rectal squamous carcinoma presented with fatigue and diffuse swelling. Liver biopsy revealed metastatic neuroendocrine carcinoma. Workup revealed markedly elevated morning cortisol and ACTH. Overnight dexamethasone suppression testing and positive immunostaining for ACTH on biopsy suggested paraneoplastic Cushing's syndrome secondary to neuroendocrine hepatic tumors with bony metastasis. This explained the patient's persistent anasarca, hyperglycemia, and electrolyte abnormalities. Despite multiple interventions, the patient's clinical status declined, and she expired.
{"title":"ACTH-Producing Neuroendocrine Carcinoma of the Liver with Cushing's Syndrome.","authors":"Mudassar Sandozi, Saagar Pamulapati, Aniqa Zaidi, Zuzanna Stuart, Sneha Pamulapati, Ajay Doniparthi","doi":"10.1155/2023/9946271","DOIUrl":"https://doi.org/10.1155/2023/9946271","url":null,"abstract":"<p><p>Paraneoplastic Cushing's syndrome arises when neuroendocrine tumors cause excess glucocorticoid production. We report a case of ectopic ACTH-producing liver neuroendocrine tumor. A 71 y.o. female with a history of rectal squamous carcinoma presented with fatigue and diffuse swelling. Liver biopsy revealed metastatic neuroendocrine carcinoma. Workup revealed markedly elevated morning cortisol and ACTH. Overnight dexamethasone suppression testing and positive immunostaining for ACTH on biopsy suggested paraneoplastic Cushing's syndrome secondary to neuroendocrine hepatic tumors with bony metastasis. This explained the patient's persistent anasarca, hyperglycemia, and electrolyte abnormalities. Despite multiple interventions, the patient's clinical status declined, and she expired.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2023 ","pages":"9946271"},"PeriodicalIF":0.9,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41113057","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}