Case Reports in Oncological Medicine最新文献

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Long-Term Data From Patients Who Received Pembrolizumab in Locally Advanced or Metastatic Cutaneous Squamous Cell Carcinoma. 局部晚期或转移性皮肤鳞状细胞癌患者接受派姆单抗治疗的长期数据
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-02-23 eCollection Date: 2025-01-01 DOI: 10.1155/crom/7038584
Katrine Elsner Melgaard, Camilla Kjaer Lonkvist, Anni Linnet Nielsen, Dorte Lisbet Nielsen, Rikke Løvendahl Eefsen
{"title":"Long-Term Data From Patients Who Received Pembrolizumab in Locally Advanced or Metastatic Cutaneous Squamous Cell Carcinoma.","authors":"Katrine Elsner Melgaard, Camilla Kjaer Lonkvist, Anni Linnet Nielsen, Dorte Lisbet Nielsen, Rikke Løvendahl Eefsen","doi":"10.1155/crom/7038584","DOIUrl":"10.1155/crom/7038584","url":null,"abstract":"<p><p>Nonmelanoma skin cancer (NMSC) is one of the most common cancers worldwide and cutaneous squamous cell carcinoma (CSCC) is the second most prevalent type of the NMSCs. Most often, the prognosis is good when treated with surgery with or without additional radiotherapy; however, in about 1% of patients, the disease is inoperable or advanced with no curative potential. We present four cases in which the immune checkpoint inhibitor pembrolizumab was given to patients with advanced CSCC. Three patients obtained complete response (CR) with an ongoing duration of response with a follow-up time of 60, 78, and 79 months and one who achieved stable disease (SD) as the best response. Two of the patients discontinued treatment after eight cycles of pembrolizumab due to side effects. Immunotherapy with a programmed death protein 1 (PD-1) inhibitor is an approved therapy for these patients today. The successful treatment with long-term duration of response of these three out of four patients supports the use of a PD-1 inhibitor as a primary treatment for locally advanced and metastatic CSCC.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"7038584"},"PeriodicalIF":0.6,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11873308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric T-Cell/Histiocyte-Rich Large B-Cell Lymphoma (THRLBC) in an 8-Year-Old Male Child: A Case Report. 儿童t细胞/组织细胞丰富的大b细胞淋巴瘤(THRLBC) 1例8岁男童
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-02-22 eCollection Date: 2025-01-01 DOI: 10.1155/crom/8869045
Gashaw Arega, Haileyesus Adam, Alemayehu Girma, Galgaloo Diida, Eden Beresa, Leul Adane, Michael A Negussie, Fadil Nuredin Abrar, Mesfin Asefa
{"title":"Pediatric T-Cell/Histiocyte-Rich Large B-Cell Lymphoma (THRLBC) in an 8-Year-Old Male Child: A Case Report.","authors":"Gashaw Arega, Haileyesus Adam, Alemayehu Girma, Galgaloo Diida, Eden Beresa, Leul Adane, Michael A Negussie, Fadil Nuredin Abrar, Mesfin Asefa","doi":"10.1155/crom/8869045","DOIUrl":"https://doi.org/10.1155/crom/8869045","url":null,"abstract":"<p><p>T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL) is a rare and aggressive subtype of diffuse large B-cell lymphoma (DLBCL) that is uncommon in children. Here, we present the case of an 8-year-old male with a 3-month history of low-grade intermittent fever, significant weight loss, loss of appetite, and progressive abdominal swelling. Examination revealed splenomegaly and a palpable midabdominal mass, with laboratory findings showing bicytopenia. Imaging demonstrated hepatosplenomegaly, diffuse hypodense liver and spleen lesions, and mesenteric and retroperitoneal lymphadenopathy. A core-needle biopsy of the mesenteric mass confirmed the diagnosis, with histopathology revealing scattered large mononuclear and binucleate cells in a background of small lymphocytes and histiocytes. Immunohistochemistry showed positivity for CD45, CD20, and EMA and negativity for CD30, CD15, and Bcl-2, excluding alternative diagnoses such as nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) and classical Hodgkin lymphoma (cHL). The patient was initially stabilized with a prephase regimen of cyclophosphamide, vincristine, and prednisone (COP), followed by induction and consolidation with R-COPADM (rituximab, cyclophosphamide, vincristine, prednisone, and methotrexate). Posttreatment imaging revealed significant resolution of lymphadenopathy and hepatosplenomegaly, with no residual or recurrent disease. At follow-up, the patient remains in clinical remission with no signs of progression. This case highlights the importance of early recognition, detailed histopathological evaluation, and the role of immunohistochemistry in accurately diagnosing THRLBCL in children, ensuring timely initiation of effective therapy and improving outcomes in this rare pediatric malignancy.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"8869045"},"PeriodicalIF":0.6,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early Detection of Krukenberg Tumors Utilizing ctDNA Testing and CEA Monitoring. 利用ctDNA检测和CEA监测早期检测Krukenberg肿瘤。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-02-21 eCollection Date: 2025-01-01 DOI: 10.1155/crom/5335858
Angela M DeRidder, Corrine M Check, Paul R Kunk, Christina Martin
{"title":"Early Detection of Krukenberg Tumors Utilizing ctDNA Testing and CEA Monitoring.","authors":"Angela M DeRidder, Corrine M Check, Paul R Kunk, Christina Martin","doi":"10.1155/crom/5335858","DOIUrl":"https://doi.org/10.1155/crom/5335858","url":null,"abstract":"<p><p>Krukenberg tumors are rare cancers involving metastatic disease in the ovaries but classically originate from gastrointestinal malignancies, and often present diagnostic challenges due to their nonspecific symptoms and advanced stage at detection. Traditional imaging techniques like ultrasound, CT, and MRI are common methods of cancer monitoring but are limited in detecting micrometastatic disease and early-stage metastases. Circulating tumor DNA (ctDNA) testing, a noninvasive liquid biopsy method, offers a promising alternative to traditional screening methods, enabling earlier detection and precise molecular profiling of metastatic tumors. We present a case study involving a female patient who initially presented with stage IV colon cancer with oligometastatic disease to a single mesenteric lymph node. Despite neoadjuvant chemotherapy and resection of known disease, postresection ctDNA returned positive. Imaging after metastectomy failed to reveal any sites of ongoing disease, although did show a small, 2.4-cm hypodensity in the right ovary interpreted by radiology as likely an ovarian follicle. Given her ctDNA positivity, she was started on capecitabine. ctDNA levels improved, but her serum carcinoembryonic antigen (CEA) tumor marker continued to rise, and imaging subsequently revealed increased bilateral ovarian masses. She underwent bilateral salpingo-oophorectomy and total abdominal hysterectomy, with pathology confirming metastatic colon adenocarcinoma, and subsequent normalization of her CEA and ctDNA levels. Our findings underscore ctDNA's potential to complement imaging, particularly for high-risk patients, for disease monitoring and to refine therapeutic management when treating Krukenberg tumors.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"5335858"},"PeriodicalIF":0.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11870764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epithelioid Hemangioendothelioma (EHE) Mimicking Mesothelioma: Case Presentation and Review. 上皮样血管内皮瘤(EHE)模拟间皮瘤:病例报告和回顾。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-02-11 eCollection Date: 2025-01-01 DOI: 10.1155/crom/9459565
Kabir Grewal, Saivaroon Gajagowni, Elyse Lopez, Kayanaat Grewal, Son Viet Nguyen
{"title":"Epithelioid Hemangioendothelioma (EHE) Mimicking Mesothelioma: Case Presentation and Review.","authors":"Kabir Grewal, Saivaroon Gajagowni, Elyse Lopez, Kayanaat Grewal, Son Viet Nguyen","doi":"10.1155/crom/9459565","DOIUrl":"10.1155/crom/9459565","url":null,"abstract":"<p><p>Epithelioid hemangioendothelioma (EHE) is an extremely rare vascular sarcoma that can initially present with a myriad of symptoms anywhere in the body. Imaging findings are often nonspecific, and the pathology tends to have overlap with other malignancies. As a result, it can be quite difficult to suspect and diagnose EHE. We present a case of pulmonary EHE in a 41-year-old female with left pleural thickening and subclavian tumor thrombus who was initially misdiagnosed and treated as mesothelioma. This instance demonstrates the importance of maintaining a broad differential and the utilization of repeat biopsies and next-generation sequencing for questionable diagnoses of atypical malignancies.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"9459565"},"PeriodicalIF":0.6,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11835476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report. t细胞淋巴母细胞淋巴瘤与寻常性鱼鳞病共存1例。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-01-29 eCollection Date: 2025-01-01 DOI: 10.1155/crom/5023552
Şule Çalışkan Kamış, Begül Yağcı
{"title":"Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report.","authors":"Şule Çalışkan Kamış, Begül Yağcı","doi":"10.1155/crom/5023552","DOIUrl":"10.1155/crom/5023552","url":null,"abstract":"<p><p>Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease. Its association with neoplastic diseases such as Hodgkin lymphoma, anaplastic large-cell lymphoma, and mycosis fungoides has been reported. T-cell non-Hodgkin lymphoma (T-NHL) with ichthyosis has been rarely reported in the literature. Here, we report a case of T-cell lymphoma with congenital IV caused by a desmoglein 1 (DSG1) gene mutation associated with hyper-IgE syndrome (HIES). A 7-year-old male patient with a diagnosis of congenital IV had a biopsy performed at an external center due to multiple lymphadenopathies, which revealed T-cell lymphoblastic lymphoma. A homozygous variant in the DSG1 gene was detected through whole-exome sequencing. The diagnosis of HIES was confirmed through clinical evaluation, including elevated serum IgE levels and associated symptoms. Skin findings, growth retardation, and HIES overlap with Online Mendelian Inheritance in Man (OMIM) #615508, and parental carrier status was confirmed. The association between ichthyosis and lymphoma was determined based on the presence of lymphoma in a patient with congenital ichthyosis and the identification of a genetic mutation in DSG1. In conclusion, the coexistence of lymphoma and IV is rare. The mechanisms of their formation are different, and they can occur independently. Rare genetic syndromes or inherited diseases can cause different health problems, such as lymphoma and ichthyosis, to occur together.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"5023552"},"PeriodicalIF":0.6,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe Mitral Regurgitation-Induced Acute Heart Failure due to Nonbacterial Thrombotic Endocarditis in a Patient With Urothelial Carcinoma Recurrence. 尿路上皮癌复发患者非细菌性血栓性心内膜炎所致严重二尖瓣反流致急性心力衰竭。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-01-29 eCollection Date: 2025-01-01 DOI: 10.1155/crom/9938933
Catarina Santos Reis, Francisco Dias, Bárbara Granja, Maria Inês Matos, Ana Ribeiro, Fernando Friões
{"title":"Severe Mitral Regurgitation-Induced Acute Heart Failure due to Nonbacterial Thrombotic Endocarditis in a Patient With Urothelial Carcinoma Recurrence.","authors":"Catarina Santos Reis, Francisco Dias, Bárbara Granja, Maria Inês Matos, Ana Ribeiro, Fernando Friões","doi":"10.1155/crom/9938933","DOIUrl":"10.1155/crom/9938933","url":null,"abstract":"<p><p>Nonbacterial thrombotic endocarditis is a rare condition characterized by the formation of noninfectious vegetations on the heart valves. It is related with systemic embolic phenomena occurring predominantly in advanced cancer stages, particularly adenocarcinomas. It is a diagnosis of exclusion based on the clinical context, echocardiographic findings of a vegetation, and negative blood cultures, and distinction between infective endocarditis is challenging. We report a case of a 66-year-old woman, with history of previously treated breast and urothelial carcinoma, presenting with constitutional syndrome and pulmonary thromboembolism. Computed tomography scan revealed systemic embolic phenomena and retroperitoneal lymphadenopathies. A vegetation in the mitral valve constituted a finding on echocardiography, causing severe mitral regurgitation, which led to severe acute heart failure and culminated in patient's death. Subsequent results of immunohistochemistry of the lymph node biopsy yielded the recurrence of urothelial carcinoma.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"9938933"},"PeriodicalIF":0.6,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hemophagocytic Lymphohistiocytosis (HLH) Following Immune Checkpoint Therapy (ICT). 免疫检查点治疗(ICT)后的噬血细胞淋巴组织细胞病(HLH)。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-01-06 eCollection Date: 2025-01-01 DOI: 10.1155/crom/5582848
Saivaroon Gajagowni, Emily Wang, Jianbo Wang, Matthew T Campbell, Bilal A Siddiqui
{"title":"Hemophagocytic Lymphohistiocytosis (HLH) Following Immune Checkpoint Therapy (ICT).","authors":"Saivaroon Gajagowni, Emily Wang, Jianbo Wang, Matthew T Campbell, Bilal A Siddiqui","doi":"10.1155/crom/5582848","DOIUrl":"10.1155/crom/5582848","url":null,"abstract":"<p><p>In the past decade, the use of immune checkpoint therapy (ICT) has increased across many malignancies, including metastatic renal cell carcinoma as an option for frontline and subsequent lines of therapy. Despite the many therapeutic benefits of ICT, its use is complicated by the potential risk of immune-related adverse events (irAEs). One rare but potentially life-threatening irAE is hemophagocytic lymphohistiocytosis (HLH). HLH is a systemic inflammatory disorder resulting in multiorgan failure. The diagnosis of HLH is a challenge due to nonspecific symptoms and overlap with other systemic conditions, which can lead to delays in receiving appropriate treatment and potentially poor patient outcomes. This case illustrates the management of HLH caused by nivolumab plus ipilimumab combination therapy through the use of corticosteroids and tocilizumab in a patient with metastatic clear cell renal cell carcinoma.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"5582848"},"PeriodicalIF":0.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atypical Femur Fracture in a Teenager on Chronic Imatinib Therapy. 慢性伊马替尼治疗的青少年非典型股骨骨折。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2025-01-06 eCollection Date: 2025-01-01 DOI: 10.1155/crom/2081905
Ana C Belzarena, James L Cook
{"title":"Atypical Femur Fracture in a Teenager on Chronic Imatinib Therapy.","authors":"Ana C Belzarena, James L Cook","doi":"10.1155/crom/2081905","DOIUrl":"10.1155/crom/2081905","url":null,"abstract":"<p><p>Atypical femoral fractures (AFFs) are rare fractures usually associated with medications that can ultimately alter bone metabolism. Imatinib, a drug prescribed for treatment of chronic myeloid leukemia (CML), has been associated with altered bone homeostasis, however, with unknown clinical significance. Here, we present the case of a 17-year-old female, with a diagnosis of CML undergoing chronic imatinib therapy, who developed an AFF treated successfully with prophylactic fixation with intramedullary nailing. Our case underscores the importance of prompt recognition of this entity to allow patients timely appropriate care, even at an early age.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"2081905"},"PeriodicalIF":0.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Digital Papillary Adenocarcinoma at the Site of 5 Years of Recurrent Paronychia: Case Report and Literature Review. 5年复发甲沟炎部位的指状乳头腺癌:1例报告及文献复习。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2024-12-23 eCollection Date: 2024-01-01 DOI: 10.1155/crom/9910470
Ethan Bernstein, Carter Bernal, Brandon Bol, Jacob Hershenhouse, Matthew Bernstein
{"title":"Digital Papillary Adenocarcinoma at the Site of 5 Years of Recurrent Paronychia: Case Report and Literature Review.","authors":"Ethan Bernstein, Carter Bernal, Brandon Bol, Jacob Hershenhouse, Matthew Bernstein","doi":"10.1155/crom/9910470","DOIUrl":"10.1155/crom/9910470","url":null,"abstract":"<p><p>Digital papillary adenocarcinoma (DPA) is a rare malignant eccrine tumor often misdiagnosed as a benign condition. A 57-year-old Caucasian male with recurrent paronychia and a subcutaneous mass on the distal phalanx of the right fourth digit was diagnosed with DPA after seeking hand surgery evaluation 5 years following onset. A marginal excisional biopsy was positive for <i>Staphylococcus aureus</i> infection and DPA, leading to surgical excision with transmiddle phalangeal amputation for negative margins. DPA, while rare, often presents insidiously, leading to delayed diagnosis and increased risk of metastasis. This tumor has high rates of recurrence and metastasis, most commonly to pulmonary and lymphatic sites. Accurate diagnosis of DPA is challenging due to its resemblance to multiple benign cutaneous conditions. Current treatments focus on surgical excision, with an emphasis on negative margins. Sentinel lymph node biopsy is not routinely performed, although guidelines are difficult to establish due to the rarity of DPA. Diagnosing and treating DPA minimizes metastasis and recurrence. DPA should be considered in patients presenting with recalcitrant or recurring cutaneous lesions. Surgical management remains the primary treatment strategy, with ongoing research needed to optimize treatment protocols and follow-up care.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"9910470"},"PeriodicalIF":0.6,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11685324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma. 在先前治疗过的乳腺癌患者胸壁血管肉瘤后检测到新的种系TP53变异:Li-Fraumeni综合征和放疗性肉瘤的病例报告和回顾
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.1155/crom/6640468
Bruna Bianca Lopes David, Sávio Solon Alves Silva, Vanessa Dinoa, Tadeu Diniz, Emilio Pereira, Carolina Bustamante, Bernardo Garicochea
{"title":"New Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma.","authors":"Bruna Bianca Lopes David, Sávio Solon Alves Silva, Vanessa Dinoa, Tadeu Diniz, Emilio Pereira, Carolina Bustamante, Bernardo Garicochea","doi":"10.1155/crom/6640468","DOIUrl":"10.1155/crom/6640468","url":null,"abstract":"<p><p>Li-Fraumeni syndrome (LFS) is one of the most common hereditary cancer predisposition syndromes in Brazil. The high frequency of the syndrome is due to a founding variant (R337H) in the country. LFS is characterized by a wide variety of malignant phenotypes. Despite the great epidemiological importance of the R337H variant, the frequency of other types of pathogenic variants is like other populations, with the majority of these being missense variants. There is strong evidence that radiotherapy is associated with secondary sarcomas, including angiosarcomas, and this finding is especially true for LFS patients. Angiosarcoma is not described as overrepresented in individuals with LFS, except in patients submitted to radiotherapy. Germline testing in all breast cancer patients under 65 will reveal many germline mutations in TP53 without a family history of cancers associated with the syndrome. We present a case of a previously undescribed pathogenic variant in TP53 (c788del, pAns263llefs⁣<sup>∗</sup>82) in a patient with no family history of cancer, with a previous diagnosis of breast carcinoma treated with radiotherapy, who developed angiosarcoma after a few years leading to germline testing. The presence of angiosarcoma in a radiotherapy bed should raise suspicion for LFS. The recent recommendation of testing breast cancer patients under the age of 65, even without any family history, can be a source of discoveries of new mutations and assist in therapeutic decisions.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"6640468"},"PeriodicalIF":0.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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