{"title":"First Description of the Clinical Activity of Avapritinib in Sporadic Mesenteric Desmoid Tumor.","authors":"Rebecca Ganzon, Wei Chen, Gabriel Tinoco","doi":"10.1155/2024/8684418","DOIUrl":"10.1155/2024/8684418","url":null,"abstract":"<p><p>Desmoid tumors (DTs) are rare and locally aggressive with a high rate of local recurrence even with optimal surgical resection. Systemic treatments are often utilized for desmoid cases with high risk of surgical morbidity or for local and symptomatic control of recurrent disease. However, the systemic treatment options for DTs are limited with limited responses. Avapritinib is a tyrosine kinase inhibitor (TKI) approved in 2020 for adults with unresectable or metastatic gastrointestinal (GI) stromal tumors (GISTs) harboring a platelet-derived growth factor receptor alpha (PDGFRA) Exon 18 mutation, including D842V mutations. In this case report, we describe a 55-year-old man with a history of D842V-mutant gastric GIST who presented several years after complete resection of the GIST with an enlarging soft tissue mass in the small intestine. After a nondiagnostic biopsy, the patient was started on avapritinib due to concerns for recurrent D842V-mutant GIST. The tumor had a partial response to treatment by RECIST 1.1 criteria, and the patient underwent surgical resection. The final pathology report revealed a sporadic DT. To our knowledge, this is the first known description of the activity of avapritinib in the treatment of a sporadic mesenteric DT, which is relevant given the limited treatment options for patients with this diagnosis. This clinical finding may be worth exploring in a dedicated clinical trial.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"8684418"},"PeriodicalIF":0.6,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970691","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}
{"title":"Pseudomyxoma Peritonei in a Case of Carcinoma Cervix: Subtle Finding With Implications on Management and Prognosis.","authors":"Sarita Kumari, Suvidya Singh","doi":"10.1155/2024/3066063","DOIUrl":"10.1155/2024/3066063","url":null,"abstract":"<p><p>Pseudomyxoma peritonei (PMP) is a well-known entity in gastrointestinal and ovarian tumors of mucinous histology. It has important implications on prognosis depending on whether seen in conjunction with a benign or a malignant tumor. In the current report, we describe a case of PMP in a case of advanced endocervical adenocarcinoma of the cervix which was managed surgically.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"3066063"},"PeriodicalIF":0.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906047","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}
{"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}
Muhammad Tahir, Eric X Wei, Carlina Madelaire, Alice S Yu, Guillermo A Herrera, Rodney E Shackelford
{"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}
{"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}
Wesley Q Zhang, Emily E Hecox, Shireen Dogar, Marc E Walker
{"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}
{"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
{"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}
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
{"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}
Florian Carneiro, Marine Bove, Frédérique Beau-Salinas, Tevy San, Pierre Combe
{"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}