Case Reports in Oncological Medicine最新文献

{"title":"Cases of Patients Treated in Countries With Limited Resources and Discussed by Experts of the International CML Foundation (iCMLf)-Case No. 2: Treatment-Free Remission After 9 Years of Imatinib Treatment Without Prior Achievement of Sustained Deep Molecular Response.","authors":"Mariana Bohns Michalowski, Meinolf Suttorp, Arlene Harriss-Buchan, Guiseppe Saglio, Nicola Evans, Nirmalya Roy Moulik","doi":"10.1155/crom/3942816","DOIUrl":"10.1155/crom/3942816","url":null,"abstract":"<p><p>Pediatric chronic myeloid leukemia (pCML) is a rare malignancy that nowadays is treated upfront with tyrosine kinase inhibitors (TKIs). As demonstrated in adult CML patients, achieving deep molecular response (DMR) and maintaining this status over 2 years results in the opportunity to discontinue TKI therapy. Following cessation, this treatment-free remission (TFR) status is successfully achieved by approximately 50% of the patients, while the other half experience molecular relapse within ≤ 6 months, requiring a TKI restart. As pCML accounts for only 2%-3% of all childhood leukemias, experience and familiarity with this disease, especially with stopping attempts, are still very limited. Small pCML cohorts enrolled in stopping TKI trials, with strict criteria applied for both depth and maintenance of DMR, have demonstrated the achievable TFR success rates seem comparable to adults. However, recommendations for considering TFR in pCML have yet to be defined. We report on a 9-year-old Brazilian boy diagnosed with CML in a chronic phase. He was treated with imatinib and achieved a molecular response (BCR::ABL1 transcript rate < 0.1%) at Month 12. Not achieving DMR, he responded well, but not optimally, to TKI therapy. Contrary to existing guidelines on TKI cessation in adults, after 9 years, imatinib was stopped. With a follow-up of 24 months, the patient is in TFR and now maintains DMR successfully. With the support of the International CML Foundation (iCMLf), which aims to improve outcomes for CML patients globally, this rare case from Brazil is discussed from the perspective of a pediatric hemato-oncologist from a high-income country, a pediatric hemato-oncologist from a low- and middle-income country, an adult CML hematologist, and the treating physician. Sharing cases of pCML in LMICs and highlighting the resources offered by the iCMLf, particularly the Knowledge Center (available online), will hopefully improve the expertise on pCML treatment worldwide.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"3942816"},"PeriodicalIF":0.6,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751356","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":"The Importance of Next-Generation Sequencing in Identifying Immunohistochemically Ambiguous Pediatric Sarcomas.","authors":"Chong Bin He, Dan Pham, Rachel S Kronenfeld, Andrew Rosenberg, Jessica Ardente, Aditi Dhir","doi":"10.1155/crom/9926653","DOIUrl":"10.1155/crom/9926653","url":null,"abstract":"<p><p>Bone and soft-tissue sarcomas encompass over 70 histologic subtypes, posing diagnostic challenges due to overlapping characteristics. Molecular analyses, such as fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR), aid in identifying specific genomic alterations but are often limited, particularly when prior histological findings are inconclusive. Next-generation sequencing (NGS) offers high-throughput testing via a targeted sequencing panel, addressing these limitations. This case series highlights the utility of NGS in diagnosing two pediatric patients with immunobiologically ambiguous Ewing sarcoma (ES) and clear cell sarcoma (CCS), emphasizing its role as a powerful tool in solid tumor diagnosis.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"9926653"},"PeriodicalIF":0.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11925606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669211","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":"Intraoperative Cortical Sensorimotor Mapping During Glioma Resection Monitored With Drum Playing During Awake Craniotomy: A Case Report.","authors":"Priscella Asman, Israt Tasnim, Matthew Muir, Mathew Hall, Kyle Noll, Sarah Prinsloo, Giuseppe Pellizzer, Shreyas Bhavsar, Sudhakar Tummala, Nuri Ince, Sujit Prabhu","doi":"10.1155/crom/4625899","DOIUrl":"10.1155/crom/4625899","url":null,"abstract":"<p><p><b>Background:</b> Tumors infiltrating the precentral gyrus remain a unique operative challenge. In this study, we explored a novel approach for awake craniotomy involving a patient playing a drum pad during resection of low-grade glioma, with the use of preoperative navigated transcranial magnetic stimulation (nTMS)-generated diffusion tensor imaging (DTI) and high-density real-time electrocorticography (ECoG). <b>Observation:</b> A 36-year-old left-handed male with a low-grade glioma in the left hemisphere hand knob region had a grand mal seizure. We combined preoperative nTMS-DTI with intraoperative passive functional mapping using high-density real-time ECoG. During an awake craniotomy, the patient played a drum pad while we assessed somatosensory-evoked potentials (SSEPs) using a 64-channel ECoG grid. This confirmed the absence of motor-evoked potentials (MEPs) over the tumor area, consistent with nTMS findings. Continuous monitoring of the patient's drum pad performance during the resection allowed for a gross total resection (GTR) of the tumor. Following the resection, he experienced some weakness in the intrinsic muscles of his right hand, which returned to full normal function at 6 months. At the end of 1 year, he remained seizure-free. <b>Conclusion:</b> A multimodal mapping strategy combined with awake monitoring of drum playing enabled preservation of function while achieving GTR in a patient with a motor-eloquent glioma.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"4625899"},"PeriodicalIF":0.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11879599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555984","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":"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}