Case Reports in Oncological Medicine最新文献

{"title":"The Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung.","authors":"Allison Jay, Morgan Devlin, M Susan Jay, Ava Powell","doi":"10.1155/crom/3254725","DOIUrl":"10.1155/crom/3254725","url":null,"abstract":"<p><strong>Introduction: </strong>Cowden syndrome (CS) is a phenotypic representation of PTEN hamartoma tumor syndrome. CS is the result of dysregulation of the MTOR pathway contributing to cellular proliferation, which leads to an increased risk for the development of benign and malignant tumors of the breast, thyroid, endometrium, and kidney. There are scarce reports of patients with this condition developing lymphomas.</p><p><strong>Case presentation: </strong>We present an African American female with a history of MALT lymphoma of the right lung diagnosed at age 41 treated with Rituxan who then presented at age 48 with a triple-negative cancer of the right breast. Physical exam showed macrocephaly, thyromegaly, and palmar pits. Family history was notable for a sister deceased from ovarian cancer at age 21 and a mother deceased from colon cancer at age 61. Genetic testing via peripheral blood identified a heterozygous PTEN pathogenic variant p.R130Q consistent with a molecular diagnosis of CS. Skin biopsy was coordinated given concern the MALT lymphoma could have contributed to spurious results and confirmed the same pathogenic PTEN mutation.</p><p><strong>Conclusion: </strong>Lymphomas have rarely been reported with this condition although activation of the PTEN pathway has been previously reported as a contributing factor in B cell lymphoma. Skin biopsies may offer the best specimen for patients with hematologic malignancy.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"3254725"},"PeriodicalIF":0.6,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430467","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":"A Rare Case of Metastatic Carotid Body Paraganglioma: A 7-Year Asymptomatic Period.","authors":"Vishal Parackal, Vibha S P, Mukesh Shanthilal","doi":"10.1155/crom/5565079","DOIUrl":"10.1155/crom/5565079","url":null,"abstract":"<p><p>Paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells that can be sympathetic or parasympathetic in nature. Paragangliomas are closely related to pheochromocytomas, which are also a form of neuroendocrine tumor arising from the adrenal medulla (Chen et al., 2010; García-Carbonero et al., 2021). Paragangliomas of sympathetic origin are often secretory in nature, causing symptoms such as headache, palpitations, excessive perspiration, and high blood pressure, and are most often found along the sympathetic chain. Common locations include the abdomen, skull base, bladder, and aortic bifurcation. Paragangliomas found in the head and neck region are often parasympathetic in origin and are non-functional. The annual incidence of paragangliomas varies from 0.04 to 0.9 individuals per 100,000 population (Subhi et al., 2022) and can present in any age group. The average age of diagnosis ranges from the third to fifth decade based on the nature of the tumor (Eisenhofer et al., 2011), and there is no significant gender predilection. These tumors are often associated with germline mutations in VHL, RET, NF1, SDHA,MEN2, SDHB, SDHC, SDHD, SDHAF2 genes (Timmers et al., 2007; Lefebvre and Foulkes, 2014; Fliedner et al., 2010). Most cases of paragangliomas are benign with very low potential for metastasis; overall, paragangliomas have a 0-36% chance of metastasis (Fliedner et al., 2010; O'Riordain et al., 1996) often being sympathetic in origin. Metastasis is more common in patients with a germline mutation in SDHB gene and having a primary tumor size greater than 5 cm at presentation (Araujo-Castro et al., 2023; Lam, 2017). This case highlights an unusual clinical course: a carotid body paraganglioma, initially asymptomatic and successfully resected, developed skeletal metastasis after a prolonged disease-free interval of 7 years. This report underscores the importance of revisiting conventional risk stratification, incorporating genetic testing, and ensuring vigilant, long-term follow-up.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"5565079"},"PeriodicalIF":0.6,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12571540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145408127","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":"Exceptional Response to Pembrolizumab in Metastatic ER+/HER2- Breast Cancer With Liver Metastases: A Case Report and Literature Review.","authors":"Claudia Villa Celi, Supriya Peshin, Adit Dharia, Faizan Bashir, Linden Erica","doi":"10.1155/crom/7970572","DOIUrl":"10.1155/crom/7970572","url":null,"abstract":"<p><strong>Background: </strong>Hormone receptor-positive (HR+) and HER2-negative breast cancer is the most common subtype in women, particularly in the postmenopausal setting. Unlike triple-negative breast cancer, the benefit of immune checkpoint inhibitors (ICIs) in HR+/HER2- disease remains uncertain because of low tumor immunogenicity and limited PD-L1 expression.</p><p><strong>Case presentation: </strong>We describe a case of a 70-year-old woman who presented with severe anemia and was incidentally found to have a bleeding left breast mass. Biopsy confirmed Grade 3 invasive ductal carcinoma (ER+/PR+ > 95%, HER2-) with nodal involvement but no distant metastases, consistent with Stage IIIc disease. She was treated with neoadjuvant anastrozole, modified radical mastectomy, adjuvant chemotherapy, radiation, and continued endocrine therapy. After 3 years, she developed extensive hepatic metastases. Biopsy revealed ER+/PR-/HER2- disease with striking PD-L1 expression (CPS 95%). The disease progressed on fulvestrant and palbociclib, but switching to carboplatin, gemcitabine, and pembrolizumab led to rapid improvement: liver function normalized and imaging showed near-complete response within 3 months. This remission lasted about 10 months before disease progression and transition to hospice care.</p><p><strong>Conclusion: </strong>This case explains the potential role of ICIs in HR+/HER2- breast cancer with unusually high PD-L1 expression. It underscores the importance of biomarker-driven treatment and supports expanding PD-L1 testing to better identify patients who may benefit from immunotherapy in this traditionally resistant subtype.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"7970572"},"PeriodicalIF":0.6,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12539981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343590","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":"A Case of Primary Pulmonary Meningioma With Genetic Characterization and Literature Review.","authors":"Zachary Braunstein, Jesse Pullen, Konstantin Shilo, Andres Madrigal, Gabriel Tinoco","doi":"10.1155/crom/6077936","DOIUrl":"10.1155/crom/6077936","url":null,"abstract":"<p><p>Primary pulmonary meningiomas (PPMs) are exceptionally rare tumors, accounting for a small fraction of ectopic meningiomas found outside the central nervous system (CNS). These tumors are typically benign, with only 5%-8% being malignant. Since the first reported case in 1982, fewer than 100 cases have been documented. We report a unique case of PPM in a 58-year-old male detected incidentally during lung cancer screening. Histopathological and immunohistochemical (IHC) analysis confirmed the diagnosis, and next-generation sequencing (NGS) revealed a Neurofibromatosis Type 2 (NF2) inactivating mutation and a likely subclonal PALB2 mutation-findings not commonly reported in the PPM literature. Our comprehensive review of 70 reported cases reveals a female predominance, asymptomatic presentation in most cases, and strong IHC positivity for EMA, PR, and vimentin. Malignant cases tended to be larger and more symptomatic. Our case highlights the value of molecular profiling in differentiating PPMs from other pulmonary neoplasms and CNS metastases. Given the emerging role of NGS in identifying tumor-specific mutations, further exploration of the genetic landscape of PPMs is warranted. Recognition of NF2 mutations as potential drivers may open new avenues for targeted therapies and long-term monitoring strategies in affected individuals.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"6077936"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249945","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":"A Rare Cervical Manifestation of Acute Myeloid Leukemia: Granulocytic Sarcoma Simulating as a Gynecologic Tumor.","authors":"Figen Efe Çamili, Gülay Turan, Kübra Bil, Gürhan Güney, Selim Afsar, Mine Islimye Taşkin","doi":"10.1155/crom/8541641","DOIUrl":"10.1155/crom/8541641","url":null,"abstract":"<p><p>Granulocytic sarcoma (GS) is an extramedullary accumulation of proliferating myeloblasts, most commonly seen in patients with acute myeloid leukemia (AML) but rarely associated with chronic myeloid leukemia, myelodysplastic syndromes, or myeloproliferative neoplasms. The skin is the most frequent site of extramedullary relapse, followed by the mediastinum, gingiva, ear, lymph nodes, central nervous system, and testis. We report a case of a 38-year-old female who presented to our clinic with abnormal vaginal bleeding. She had a history of bone marrow transplantation 5 years ago for AML. Based on clinical suspicion, a cervical biopsy was performed, which confirmed the diagnosis of GS. Although GS involving the female reproductive tract is rare, it should be considered in the differential diagnosis of abnormal gynecologic symptoms in patients with a history of AML.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"8541641"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250012","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 Vigilant Prescreening and Monitoring: Missed Adrenal Insufficiency in a Patient on Pembrolizumab.","authors":"Juned Islam, Zakaria Rashid, Alex B Munster, Peta Hughes, Sasa Badzek","doi":"10.1155/crom/8656099","DOIUrl":"10.1155/crom/8656099","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICIs), such as pembrolizumab, have transformed cancer treatment by enhancing antitumour immunity. However, they are associated with immune-related adverse events (irAEs), including endocrinopathies like adrenal insufficiency. While existing literature extensively covers the risk of pembrolizumab-induced adrenal insufficiency, this case highlights the consequences of failing to act on an abnormal pretreatment cortisol result, leading to delayed diagnosis and clinical deterioration. We report the case of a 76-year-old male with metastatic squamous cell carcinoma (SCC) of the oesophagus undergoing treatment with pembrolizumab. A routine pretreatment blood test in mid-September revealed a cortisol level of 55 nmol/L (low), but this result was not flagged or acted upon. Three weeks later, the patient presented with worsening lethargy, vomiting and hyponatraemia. Follow-up testing confirmed persistently low cortisol levels, leading to a delayed diagnosis of adrenal insufficiency. Hydrocortisone replacement therapy was initiated, with subsequent symptom improvement. This case underscores the need for rigorous pretreatment hormone profiling, systematic review of laboratory test results and safeguarding mechanisms such as automated alerts for abnormal findings. Implementing structured endocrine monitoring in immunotherapy prescribing protocols could prevent similar occurrences and improve patient outcomes.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"8656099"},"PeriodicalIF":0.6,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12500349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243863","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":"A Critical Case of Chronic Eosinophilic Leukemia: Diagnostic Criteria and Response to Cytarabine.","authors":"Ana Karen Cruz-Acevedo, Eduardo L Pérez-Campos, María Teresa Hernández-Huerta, Miguel Cruz-Reyes, Joel López-Matías, Laura Pérez-Campos Mayoral, Víctor Cruz-Hernández","doi":"10.1155/crom/8887007","DOIUrl":"10.1155/crom/8887007","url":null,"abstract":"<p><p>Chronic eosinophilic leukemia (CEL) belongs to the group of chronic myeloproliferative neoplasms characterized by the persistence of an absolute eosinophil count (AEC) > 1.5 × 10⁹/L for 1-6 months and is accompanied by organ damage. The new World Health Organization criteria for the diagnosis of CEL are the presence of the cytogenetic alteration <i>FIP1L1::PDGFRA</i> as an oncogene; in its absence, morphological criteria in bone marrow define the diagnosis with blasts > 5% and < 20% and in peripheral blood with > 2% of blasts and eosinophilia >1.5 × 10⁹/L. The current study describes the case of a 60-year-old man who was admitted to the internal medicine department in critical condition with fever, cough, dyspnea, shortness of breath, and intense abdominal pain, and his spleen had the following measurements: 8-8-10 cm. The complete blood count showed hemoglobin 8.5 g/dL, platelets92 × 10⁹/L, leukocytes105.97 × 10⁹/L, total neutrophils31.79 × 10⁹/L, AEC69.40 × 10⁹/L, and lymphocytes4.23 × 10⁹/L, and the bone marrow analysis revealed 25% eosinophils and 12% myeloblasts. Thorax and abdomen computed tomography showed interstitial infiltrate, pleural effusion, and splenomegaly. Endoscopy showed ulcerative lesions in the digestive tract. This case underscores the crucial role of both bone marrow and peripheral blood morphological criteria in diagnosing CEL. This rare disease manifests at an advanced stage with complex clinical features but responds well to cytarabine.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"8887007"},"PeriodicalIF":0.6,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12496144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231426","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":"Isolated Leptomeningeal Carcinomatosis in Urothelial Carcinoma: A Case Report of Positive CSF Cytology With Negative Imaging.","authors":"Christina Lim, Eric Winquist, Mariamma Joseph, Prathana Nathan","doi":"10.1155/crom/8889550","DOIUrl":"10.1155/crom/8889550","url":null,"abstract":"<p><p>Bladder cancer is one of the most common cancers worldwide; however, leptomeningeal carcinomatosis (LMC) is an uncommon and understudied complication. We report a male patient diagnosed with LMC while in apparent clinical remission of metastatic urothelial carcinoma of the bladder. He presented with headaches, vision changes, hearing impairment, and leg weakness. Imaging of the brain and spinal cord was negative; however, the cerebrospinal fluid was positive for malignant cells consistent with high-grade urothelial carcinoma, confirming the diagnosis of LMC. Conservative measures and whole-brain radiation were ineffective, and he died 2 months after his LMC diagnosis. Literature review identified 45 cases of LMC due to bladder cancer, and we summarize these data. It is unclear whether new and more effective systemic treatment approaches for urothelial carcinoma will also reduce the risk of LMC or provide better treatment for LMC, supporting a need for more study of this devastating complication.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"8889550"},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231509","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":"Renal Cell Carcinoma With Myocardial Metastasis: A Case of Tumor-Induced Cardiac Tamponade After Radical Nephrectomy.","authors":"Hussein Haidari, Samuel C Hall, Sagar Kumar, Huseyin Kilic, Omar Alkharabsheh","doi":"10.1155/crom/1493666","DOIUrl":"10.1155/crom/1493666","url":null,"abstract":"<p><p>Renal cell carcinoma (RCC) commonly metastasizes to the lung, bone, and liver. Cardiac metastasis, especially in the absence of IVC involvement, is considered extremely rare. We report an 81-year-old male with a history of clear cell RCC who underwent radical nephrectomy, and 10 years later, he presented with acute cardiac tamponade secondary to pathologically confirmed late myocardial metastasis.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"1493666"},"PeriodicalIF":0.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12483752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205753","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":"Successful Treatment With Single-Fraction Stereotactic Body Radiotherapy to Lung and Reirradiation of Neck Node Metastases in a Treated Base Tongue Primary.","authors":"Aakriti Bhardwaj, Sindhu Tanigassalam, Shambhavi C, Shirley Lewis","doi":"10.1155/crom/1608574","DOIUrl":"10.1155/crom/1608574","url":null,"abstract":"<p><p><b>Introduction:</b> Head and neck cancers are one of the most common cancers globally. Locoregional recurrence or distant metastasis is a common mode of recurrence and should be treated curatively, where feasible. We present a case of an elderly gentleman treated with reirradiation for nodal metastases and lung metastases ablated with single-fraction SBRT. <b>Case Summary:</b> An elderly 73-year-old gentleman treated with definitive radiotherapy 3 years ago for carcinoma of the base of the tongue presented with the complaint of left neck swelling for 3 weeks. A 2 × 3 cm left Level II lymph node was palpable with skin involvement. The positron emission tomography (PET) was suggestive of a left Level II cervical node measuring 4 × 4 × 3.2 cm, encasing the carotid artery and involving the skin, and a 3 × 2 cm right lower lobe lung lesion, suggestive of a metachronous lung primary or metastasis. The neck node was deemed unresectable due to more than 180-degree contact with vessels. The patient was unwilling to undergo a biopsy of the lung. Given the age, performance status and oligometastatic presentation, the patient was planned for radical intent treatment to both the neck node and the lung lesion. He was treated with reirradiation to the neck node with a dose of 66 Gy in 33 fractions over 6.5 weeks and SBRT 34 Gy in a single fraction to the lung lesion. He developed neck soft tissue necrosis, at 1.5 years after radiation, which resolved on antibiotics. The patient remains clinically well, and the PET scan performed at 1 and 2 years following radiation showed complete response with no new metastasis. <b>Conclusion:</b> Radical intent can be considered in oligometastatic head and neck cancers. Reirradiation is a treatment option for patients with recurrent head and neck cancers. Single-fraction SBRT is one of the recommended dose schedules for lung metastases.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2025 ","pages":"1608574"},"PeriodicalIF":0.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12483741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205759","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}