Case Reports in Oncology最新文献

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A Case of Ear Canal Cancer with a High Venous Arch That Benefited from an Intraoperative Navigation System.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-14 eCollection Date: 2025-01-01 DOI: 10.1159/000542927
Ryota Tomioka, Yusuke Aihara, Kiyoaki Tsukahara
{"title":"A Case of Ear Canal Cancer with a High Venous Arch That Benefited from an Intraoperative Navigation System.","authors":"Ryota Tomioka, Yusuke Aihara, Kiyoaki Tsukahara","doi":"10.1159/000542927","DOIUrl":"10.1159/000542927","url":null,"abstract":"<p><strong>Introduction: </strong>Cancers of the external auditory canal are rare. Surgery may be the treatment of choice for localized cases. Lateral temporal bone resection is one surgical treatment option. It is rarely performed by skilled surgeons and requires caudal and anterior cutting of the tympanic chamber bone, which is not usually performed in ear surgery. It is imperative to ensure that the internal jugular vein and important nerves are present.</p><p><strong>Case presentation: </strong>In this report, we describe a case of adenoid cystic carcinoma of the external auditory canal in which lateral temporal bone resection was safely performed using intraoperative navigation. A 33-year-old woman was diagnosed with an adenoid cystic carcinoma of the right external auditory canal by another physician and presented to our department. After close examination, she was diagnosed with T3N0M0 cancer of the external auditory canal and was referred to our department for lateral temporal bone resection. Although the patient had a high venous arch, intraoperative navigation enabled unblocked resection without exposing the tumor or damaging the vital tissues.</p><p><strong>Conclusion: </strong>Intraoperative navigation is considered a safer lateral temporal bone resection approach.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"68-75"},"PeriodicalIF":0.7,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11731905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467009","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
Successful Management of Post-Thymectomy Pure Red Cell Aplasia with Rituximab: A Case Report.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-14 eCollection Date: 2025-01-01 DOI: 10.1159/000542915
Mohammed Abdulgayoom, Ibrahim Ganwo, Fateen Ata, Haval Surchi, Ussama Al-Homsi, Honar Cherif
{"title":"Successful Management of Post-Thymectomy Pure Red Cell Aplasia with Rituximab: A Case Report.","authors":"Mohammed Abdulgayoom, Ibrahim Ganwo, Fateen Ata, Haval Surchi, Ussama Al-Homsi, Honar Cherif","doi":"10.1159/000542915","DOIUrl":"10.1159/000542915","url":null,"abstract":"<p><strong>Background: </strong>Pure red cell aplasia (PRCA) is a rare cause of anemia characterized by decreased red blood cell production, often associated with thymomas. While thymectomy is commonly performed to treat thymoma-associated PRCA, the development of PRCA post-thymectomy is less understood.</p><p><strong>Case presentation: </strong>We present a case of a 25-year-old woman who developed PRCA and autoimmune diabetes mellitus (DM) following radical thymectomy for malignant thymoma. Initial treatment with prednisolone showed minimal improvement, leading to the inclusion of rituximab. This combination resulted in a significant increase in reticulocyte counts and transfusion independence.</p><p><strong>Discussion: </strong>This case highlights the potential for PRCA to develop after thymectomy and the challenges of treating PRCA in the context of additional conditions like autoimmune DM. While immunosuppressive therapies such as cyclosporin A and corticosteroids are standard, their side effects necessitated exploring alternative treatments. Rituximab proved effective and was well-tolerated, suggesting its potential as a primary option in similar cases.</p><p><strong>Conclusion: </strong>This case illustrates the occurrence of PRCA after thymectomy and highlights rituximab's effectiveness as a treatment option, offering a viable alternative to standard therapies in managing this complex condition.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"100-106"},"PeriodicalIF":0.7,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11731903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466904","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
Recurrent Myxoid Liposarcoma of the Upper Thoracic Spine: A Case Report.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-10 eCollection Date: 2025-01-01 DOI: 10.1159/000542503
Huaitai Lin, Xinjia Wang, Chanping Yang, Chenyu Yang, Jinhao Zhu, Zijian Xu, Weidong Wang
{"title":"Recurrent Myxoid Liposarcoma of the Upper Thoracic Spine: A Case Report.","authors":"Huaitai Lin, Xinjia Wang, Chanping Yang, Chenyu Yang, Jinhao Zhu, Zijian Xu, Weidong Wang","doi":"10.1159/000542503","DOIUrl":"10.1159/000542503","url":null,"abstract":"<p><strong>Introduction: </strong>Liposarcoma, one of the most common soft tissue sarcomas, originates from primitive mesenchymal cells. However, spinal involvement of liposarcoma, whether primary or metastatic, is rare. According to literature reports, myxoid/round cell liposarcomas are the most common types affecting the spine. Spinal liposarcomas, whether primary or metastatic, have only been sporadically reported.</p><p><strong>Case presentation: </strong>The author presents an unusual case of recurrent myxoid liposarcoma originating from the erector spinae muscle, infiltrating the upper thoracic spine in a 65-year-old female. The patient presented with a 1-week history of progressively worsening right chest and back pain. The treatment approach involved surgical intervention with wide tumor resection, spinal cord decompression, posterior instrumentation, and thoracoplasty, complemented by radiotherapy.</p><p><strong>Conclusion: </strong>The preferred treatment is en bloc resection with wide margins. Postoperative radiation therapy can serve as complementary treatment for piecemeal resection. A follow-up is necessary because of the potential for recurrence.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"47-54"},"PeriodicalIF":0.7,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11723665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466883","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
Concurrent TP53 Mutations Facilitate Resistance Evolution in EGFR Exon 20 S768I Mutant Lung Adenocarcinoma: A Case Report and Review of the Literature.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-09 eCollection Date: 2025-01-01 DOI: 10.1159/000543453
Huijuan Zhu, Hui Tang, Huizhen Peng, Wei Ding
{"title":"Concurrent TP53 Mutations Facilitate Resistance Evolution in EGFR Exon 20 S768I Mutant Lung Adenocarcinoma: A Case Report and Review of the Literature.","authors":"Huijuan Zhu, Hui Tang, Huizhen Peng, Wei Ding","doi":"10.1159/000543453","DOIUrl":"10.1159/000543453","url":null,"abstract":"<p><strong>Introduction: </strong>Adenocarcinoma of the lung is the most common subtype of non-small cell lung cancer, and epidermal growth factor receptor (EGFR) mutations are the most common driver genes in the development of cancer (NSCLC). Among them, mutations in exons 18-21 are the most frequent, especially the deletion of exons 19 and 21, where L858R mutations are the most common. Other mutations such as S768I, G719X, and 20ins are relatively rare. In the population of lung adenocarcinoma patients with EGFR mutations, some common mutations may occur, especially TP53.</p><p><strong>Case presentation: </strong>Here, this study presents a retrospective analysis of neoadjuvant therapy for lung adenocarcinoma and reviews relevant literature. The patient was diagnosed with T4N3M1a, stage IVa. After 1 month of chemotherapy with 860 mg of pemetrexed and 480 mg of carboplatin, and immunotherapy with 200 mg of sintilimab, good response to conventional chemotherapy, but a follow-up CT scan showed disease progression. Next-generation sequencing showed EGFR exon 20 missense mutation (p.S768I and p.V774M) combined with tumor protein p53 (TP53) (p.Y220C) missense mutation, with mutation abundance of 48.6%/49.7% and 49.2%, respectively. Subsequently, chemotherapy with paclitaxel albumin 400 mg and treatment with pembrolizumab 200 mg were administered, followed by targeted treatment with oral afatinib (PFS: 12 months). And then, brain metastasis occurred, and targeted treatment with osimertinib was used instead (PFS: 9 months). The therapeutic effect is significant, but due to severe side effects, the patient stopped taking the medication on their own. Five months later, the patient became seriously ill again and CEA levels increased. Targeted treatment with furmonertinib (PFS: 3 months) and sunvozertinib (PFS: 3 months) was used instead. Three months later, the blood CEA level briefly decreased and then continued to increase, indicating the patient's critical condition.</p><p><strong>Conclusion: </strong>The results indicate that targeted therapy with afatinib and osimertinib for EGFR S7688I/V774M and TP53 mutations has better PFS than targeted therapy with furmonertinib and sunvozertinib. Simultaneously, the combination of platinum-based chemotherapy and immunotherapy may be a potential neoadjuvant therapy for NSCLC IVa stage patients.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"220-230"},"PeriodicalIF":0.7,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11813272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467015","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
Disseminated Marginal Zone Lymphoma in a Patient with Lyme Neuroborreliosis: A Case Report.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-08 eCollection Date: 2025-01-01 DOI: 10.1159/000543348
Dorit Kraft Weisbjerg, Sigurdur Skarphedinsson, Nanna Skaarup Andersen, Louise Kristensen, Thomas Stauffer Larsen, Fredrikke Christie Knudtzen
{"title":"Disseminated Marginal Zone Lymphoma in a Patient with Lyme Neuroborreliosis: A Case Report.","authors":"Dorit Kraft Weisbjerg, Sigurdur Skarphedinsson, Nanna Skaarup Andersen, Louise Kristensen, Thomas Stauffer Larsen, Fredrikke Christie Knudtzen","doi":"10.1159/000543348","DOIUrl":"10.1159/000543348","url":null,"abstract":"<p><strong>Introduction: </strong>Lyme borreliosis has been associated with lymphoma, particularly cutaneous lymphomas. The literature is conflicted regarding the effect of antibiotic therapy in cutaneous marginal zone lymphomas (MZLs) in individuals with Lyme borreliosis. We present a patient diagnosed with Lyme neuroborreliosis (LNB) and disseminated MZL.</p><p><strong>Case presentation: </strong>A 67-year-old man was seen due to 6 weeks of neuropathic pain with nightly worsening, headache, and 5 kg weight loss. Two weeks prior to symptom debut, he had a tick bite in the left groin, no subsequent rash. A lumbar puncture revealed mononuclear pleocytosis and elevated CSF protein. The patient was admitted and started on ceftriaxone. The <i>Borrelia burgdorferi</i> intrathecal test showed intrathecally produced <i>Borrelia</i> antibodies, and treatment was changed to doxycycline with a total treatment duration of 21 days. A PET/CT revealed enlarged lymph nodes with increased FDG uptake. On pathological examination, the CSF showed 62% clonal B cells - compatible with low-grade B-cell lymphoma. Examination of bone marrow and an inguinal lymph node confirmed disseminated MZL. A control lumbar puncture 8 weeks later showed declining pleocytosis and clonal B cells. At last follow-up 20 months later, he was still asymptomatic and had not required antineoplastic treatment.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first published case of LNB with non-cutaneous B-cell lymphoma treated and remitting on antibiotics alone. Antibiotic treatment for <i>Borrelia</i>-positive lymphomas has yet to be investigated with high-evidence study designs, so clinicians are encouraged to publish both positive and negative findings relevant to this. We believe this case brings new perspectives to future diagnosis and treatment of lymphomas in patients with verified Lyme borreliosis.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"213-219"},"PeriodicalIF":0.7,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11810129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467029","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
A Case of Myeloproliferative Neoplasm with Eosinophilia Associated with PCM1-JAK2 Rearrangement.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-08 eCollection Date: 2025-01-01 DOI: 10.1159/000542692
Wen Zhou, Xiaojia Guo, Yang Liu, Zhengdong Hao, Songlin Chu, Liansheng Zhang, Lijuan Li
{"title":"A Case of Myeloproliferative Neoplasm with Eosinophilia Associated with PCM1-JAK2 Rearrangement.","authors":"Wen Zhou, Xiaojia Guo, Yang Liu, Zhengdong Hao, Songlin Chu, Liansheng Zhang, Lijuan Li","doi":"10.1159/000542692","DOIUrl":"10.1159/000542692","url":null,"abstract":"<p><strong>Introduction: </strong>The PCM1-JAK2 rearrangement is generated through the t(8; 9)(p22; p24) translocation event. The myeloid/lymphoid neoplasms with eosinophilia (MLN-eo) with PCM1-JAK2 rearrangement is the common types of MLN-eo with tyrosine kinase fusion genes (MLN-Eo-tk). MLN-Eo with PCM1-JAK2 rearrangement is a rare disease with a poor prognosis and no unified treatment guidelines. The response of disease to ruxolitinib may be transient and it may only serve as a temporary treatment prior to transplantation.</p><p><strong>Case presentation: </strong>We report 1 patient diagnosed with MLN-Eo with PCM1-JAK2 rearrangement who exhibited resistance to ruxolitinib, subsequently received pegylated interferon (Peg-IFN) and lenalidomide. The Peg-IFN was discontinued due to adverse effects; the patient has been receiving lenalidomide monotherapy for a duration exceeding 2 years, achieving complete hematologic remission and molecular response, significant amelioration of symptoms, as well as regression of hepatosplenomegaly.</p><p><strong>Conclusion: </strong>A case of MLN-Eo with PCM1-JAK2 rearrangement underwent continuous oral lenalidomide monotherapy for over 2 years. The patient achieved complete hematologic remission and molecular response during the long-term follow-up; however, a complete molecular remission was not attained. The underlying mechanism of lenalidomide in these diseases necessitates further comprehensive investigation through fundamental research and clinical trials.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"190-197"},"PeriodicalIF":0.7,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11790268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467011","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
The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-07 eCollection Date: 2025-01-01 DOI: 10.1159/000541677
Jacqueline Boyle, William Miller, Andrew Tsung
{"title":"The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature.","authors":"Jacqueline Boyle, William Miller, Andrew Tsung","doi":"10.1159/000541677","DOIUrl":"10.1159/000541677","url":null,"abstract":"<p><strong>Introduction: </strong>We present the case of a 58-year-old female with Branchiootorenal (BOR) syndrome who was diagnosed with glioblastoma (GBM). A relationship between BOR syndrome and GBM has not previously been reported, prompting a literature review into the underlying genomics of BOR syndrome and CNS glioma.</p><p><strong>Case presentation: </strong>The patient underwent craniotomy for resection with pathology demonstrating IDH-wildtype (WHO grade 4), MGMT-unmethylated glioblastoma. After outpatient discussion with oncology, the patient and her family elected not to pursue chemotherapy or radiation.</p><p><strong>Conclusion: </strong>Literature review revealed common mutations to <i>EYA</i> and <i>SIX</i> genes, suggesting a possible unestablished relationship and future pathway for targeted treatments. Future studies should investigate the incidence of glioma in BOR patients with emphasis on genetic testing.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"42-46"},"PeriodicalIF":0.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11706612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466906","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
Long-Term and Sustained Remission of Advanced Triple-Negative Breast Cancer with Large Chest Wall Lesions after Transient Chemoimmunotherapy: A Case Report.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-07 eCollection Date: 2025-01-01 DOI: 10.1159/000543292
Chanjuan Chen, Xiaonan Pang, Mingjun Zhang, Fanfan Li, Wanying Zhang, Wei Chen
{"title":"Long-Term and Sustained Remission of Advanced Triple-Negative Breast Cancer with Large Chest Wall Lesions after Transient Chemoimmunotherapy: A Case Report.","authors":"Chanjuan Chen, Xiaonan Pang, Mingjun Zhang, Fanfan Li, Wanying Zhang, Wei Chen","doi":"10.1159/000543292","DOIUrl":"10.1159/000543292","url":null,"abstract":"<p><strong>Introduction: </strong>We report a case of advanced triple-negative breast cancer (TNBC) with special clinical manifestations, in which a durable remission was achieved after short-term administration of toripalimab combined with chemotherapy. The progress, advantages, and unique experience of chemoimmunotherapy in TNBC were examined.</p><p><strong>Case presentation: </strong>A patient with TNBC with local recurrence 2 years following surgery, with inoperable large chest wall lesions and positive PD-L1 as the main manifestations, was treated with toripalimab plus paclitaxel (albumin-bound) for 5 months and achieved a partial remission. Twenty-five months after the discontinuation of treatment, the chest wall lesions exhibited a slow but continuous decline, until they achieved a nearly complete remission; however, the patient eventually died from cancer progression.</p><p><strong>Conclusion: </strong>Typically, chest wall recurrence in TNBC has a poor prognosis; however, recurrence was rapidly controlled, sustained remission was achieved after immunotherapy combined with chemotherapy, and the curative effect continued after drug withdrawal, which is a rare occurrence. Thus, the tailing effect of immune checkpoint inhibitors was confirmed in the treatment of TNBC.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"198-205"},"PeriodicalIF":0.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467033","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
Paraneoplastic Neurologic Syndrome Associated with Fallopian Tube Cancer: A Case Report.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-06 eCollection Date: 2025-01-01 DOI: 10.1159/000542885
YingXiang Wang, HaoTian Wu, Jian Gu, Jia Wang
{"title":"Paraneoplastic Neurologic Syndrome Associated with Fallopian Tube Cancer: A Case Report.","authors":"YingXiang Wang, HaoTian Wu, Jian Gu, Jia Wang","doi":"10.1159/000542885","DOIUrl":"10.1159/000542885","url":null,"abstract":"<p><strong>Introduction: </strong>Paraneoplastic neurological syndrome (PNS) was identified as a rare and unique clinical complication of primary tumors. Paraneoplastic cerebellar degeneration, a subtype of PNS, involved an immune-mediated attack on cerebellar Purkinje cells, resulting in a series of cerebellar symptoms.</p><p><strong>Case presentation: </strong>We report a case of an elderly female patient who presented with subacute cerebellar symptoms, positive anti-YO antibody, and elevated CA-125 levels. Further examination revealed a fallopian tube malignancy. After surgery, intravenous immunoglobulin and glucocorticoid treatment, the oncological response was satisfactory, but the neurological symptoms did not improve.</p><p><strong>Conclusion: </strong>This case illustrates the importance of considering a paraneoplastic etiology in patients with unexplained neurological manifestations and emphasized the necessity of appropriate management and early treatment of the primary malignancy.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"35-41"},"PeriodicalIF":0.7,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466446","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
Next-Generation Sequencing: Key for Diagnosing Angiomyolipoma - A Case Report.
IF 0.7
Case Reports in Oncology Pub Date : 2025-01-03 eCollection Date: 2025-01-01 DOI: 10.1159/000542960
José Revilla López, Rainer Enciso Chancahuana, Sayuri Meza Cruzado, Francisco Meléndez Ríos, Yashira L Negrón Abril, Daniel Sumarriva, Timothy Samec, Yasser Sullcahuaman Allende, Ivan Chávez Passiuri, Luis Casanova Marquez, Carlos Carracedo Gonzáles
{"title":"Next-Generation Sequencing: Key for Diagnosing Angiomyolipoma - A Case Report.","authors":"José Revilla López, Rainer Enciso Chancahuana, Sayuri Meza Cruzado, Francisco Meléndez Ríos, Yashira L Negrón Abril, Daniel Sumarriva, Timothy Samec, Yasser Sullcahuaman Allende, Ivan Chávez Passiuri, Luis Casanova Marquez, Carlos Carracedo Gonzáles","doi":"10.1159/000542960","DOIUrl":"10.1159/000542960","url":null,"abstract":"<p><strong>Introduction: </strong>Renal angiomyolipomas (AMLs) are rare tumors categorized within the perivascular epithelioid cell tumor (PEComa) family, most of which are benign, except for epithelioid AMLs (EAML) with malignant potential. EAML develops sporadically or as part of the tuberous sclerosis complex (TSC), where mutations of the <i>TSC1/2</i> genes result in increased activation of the mammalian target of the rapamycin (<i>mTOR</i>) signaling pathway.</p><p><strong>Case presentation: </strong>A 52-year-old female patient experienced dyspnea and abdominal pain, leading to the discovery of a retroperitoneal tumor confirmed by tomography. She was initially diagnosed with a retroperitoneal liposarcoma with lung metastasis. Following a first-line anthracycline-based chemotherapy, the patient achieved a complete clinical and tomographic response. Subsequent surgical resection of the primary tumor and a course of ifosfamide monotherapy yielded a 36-month progression-free survival to date. Comprehensive molecular profiling of the primary tumor by whole exome sequencing revealed pathogenic mutations in <i>TSC2</i> and the absence of amplifications in <i>MDM2</i> and <i>CDK4</i>, raising the need to consider a differential diagnosis in PEComas, and contemplate the potential use of <i>AKT</i>/<i>Pi3K</i>/<i>mTOR</i> pathway inhibitors. Pathological re-evaluation confirmed the diagnosis of a metastatic retroperitoneal AML with complete response and no evidence of disease.</p><p><strong>Conclusion: </strong>This case underscores the invaluable role of next-generation sequencing testing in the differential diagnosis of retroperitoneal tumors, as well as the ability to identify precise therapeutic targets for the treatment of rare soft tissue cancer types within the realm of precision medicine.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"247-254"},"PeriodicalIF":0.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482386","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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