Journal of medical cases最新文献

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Secondary Central Nervous System Lymphoma Involving Meninges: A Rare Case Report and a Comprehensive Review of Peripheral T-Cell Lymphoma, Not Otherwise Specified. 继发性中枢神经系统淋巴瘤累及脑膜:一例罕见病例报告及外周t细胞淋巴瘤的综合回顾。
IF 0.9
Journal of medical cases Pub Date : 2025-07-19 eCollection Date: 2025-07-01 DOI: 10.14740/jmc5149
Mrudula Thiriveedi, Muralidhar Idamakanti, Siddharth Patel, Rafik ElBeblawy, Sujatha Baddam, Bala Nimmana, Virginia Dailey, Rishi Patel
{"title":"Secondary Central Nervous System Lymphoma Involving Meninges: A Rare Case Report and a Comprehensive Review of Peripheral T-Cell Lymphoma, Not Otherwise Specified.","authors":"Mrudula Thiriveedi, Muralidhar Idamakanti, Siddharth Patel, Rafik ElBeblawy, Sujatha Baddam, Bala Nimmana, Virginia Dailey, Rishi Patel","doi":"10.14740/jmc5149","DOIUrl":"10.14740/jmc5149","url":null,"abstract":"<p><p>Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), is a rare and aggressive subtype of non-Hodgkin lymphoma (NHL) that arises from mature T or natural killer (NK) cells, accounting for about 5% of all NHL cases. While PTCL-NOS typically involves lymph nodes, extranodal sites such as the skin, gastrointestinal tract, liver, and lungs can also be affected. Central nervous system (CNS) involvement is extremely rare, especially at the time of initial presentation. When it does occur, the brain is most commonly affected, followed by the spinal cord and meninges. We present a rare case of PTCL-NOS with secondary CNS lymphoma involving the meninges at initial diagnosis. Our patient is a 75-year-old male with multiple comorbidities who presented with several weeks of intermittent headaches. Imaging showed multiple extra-axial brain lesions with infiltration into extracranial soft tissues, epidural space, meninges, and brain parenchyma. A subsequent lymph node biopsy confirmed PTCL-NOS. He was started on rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP), with plans for high-dose methotrexate. Thereafter, the patient was readmitted several times due to various complications and expired approximately 2.5 months after diagnosis. We conclude that secondary CNS involvement in PTCL-NOS is very rare and has a poor prognosis, with a median survival after CNS diagnosis of about 1.1 months. Early diagnosis and tailored treatment strategies, including CNS-penetrating agents, are essential. Continued research is needed to better understand and improve outcomes for this aggressive disease.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 7","pages":"259-266"},"PeriodicalIF":0.9,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144736492","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
Influenza A H1N1 Triggering Complement-Mediated Hemolytic Uremic Syndrome. 甲型H1N1流感引发补体介导的溶血性尿毒症综合征。
IF 0.9
Journal of medical cases Pub Date : 2025-07-19 eCollection Date: 2025-07-01 DOI: 10.14740/jmc5129
Sathwik Madireddy, MacKenzie Adams, Boris Martinez Recinos
{"title":"Influenza A H1N1 Triggering Complement-Mediated Hemolytic Uremic Syndrome.","authors":"Sathwik Madireddy, MacKenzie Adams, Boris Martinez Recinos","doi":"10.14740/jmc5129","DOIUrl":"10.14740/jmc5129","url":null,"abstract":"<p><p>Complement-mediated hemolytic uremic syndrome (CM-HUS) is a condition characterized by hemolytic anemia, thrombocytopenia, and renal impairment, typically associated with a chronic dysregulation of the complement system. Few adult cases of CM-HUS triggered by influenza infection have been described. Here we present a case of a 56-year-old female with multiple myeloma receiving cancer treatment who presented with Influenza A H1N1-associated CM-HUS. She was treated with anti-complement therapy and at her 1-month follow-up had complete resolution of renal dysfunction and hemolytic anemia. This case highlights influenza infection as a trigger for CM-HUS in an immunocompromised adult and the role of anti-complement therapies.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 7","pages":"254-258"},"PeriodicalIF":0.9,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144736490","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
Investigation and Management of a Small Outbreak of Septic Knee Arthritis Following Knee Arthroscopy by Stenotrophomonas maltophilia. 一例由嗜麦芽窄养单胞菌引起的膝关节镜检查后脓毒性膝关节炎小爆发的调查与处理。
IF 0.9
Journal of medical cases Pub Date : 2025-07-08 eCollection Date: 2025-07-01 DOI: 10.14740/jmc5138
Li Yin, Shuang Yang, Dong Fa Liao, Wei Jie Yang, Jin Biao Liu, Bing Deng
{"title":"Investigation and Management of a Small Outbreak of Septic Knee Arthritis Following Knee Arthroscopy by <i>Stenotrophomonas maltophilia</i>.","authors":"Li Yin, Shuang Yang, Dong Fa Liao, Wei Jie Yang, Jin Biao Liu, Bing Deng","doi":"10.14740/jmc5138","DOIUrl":"10.14740/jmc5138","url":null,"abstract":"<p><p>Knee septic arthritis caused by <i>Stenotrophomonas maltophilia</i> (<i>S. maltophilia</i>) was very rare in immunocompetent group but was observed in a series of post-arthroscopy patients in our hospital. This study aimed to report the clinical course and treatments of the infections and the investigation of the incidents. One patient who underwent knee arthroscopy exhibited serious knee septic arthritis 17 days postoperatively. Later, three more similar patients were also suspected of knee infection. Investigation was initiated by interviews with personnel and reviews of medical records. All instruments associated with arthroscopy were subsequently sampled and tested. While no abnormalities were revealed in medical personnel and records, positive culture of <i>S. maltophilia</i> was found on one arthroscope, used in all four infected patients. No violations were found in sterilization processes. The contaminated arthroscope was proven loss of airtightness subsequently. For infection treatment, double or triple therapy of levofloxacin, sulfamethoxazole-trimethoprim, and minocycline was administered, with additional debridement performed in one patient. By retrospective survey, another three patients were suspected of infection out of the total 19 patients who underwent knee arthroscopy in last 4 weeks. After intervention, all involved patients recovered. Although <i>S. maltophilia</i> is a rare cause of knee septic arthritis, it can still occur and even lead to nosocomial outbreaks through instrument-related transmission. Sulfamethoxazole-trimethoprim, levofloxacin, and minocycline remain the treatment of choice, despite the rising global resistance rates. Although hydrogen peroxide gas plasma sterilization serves as a fast and effective method for instrument sterilization in arthroscopy, maintaining good arthroscope condition and airtightness ensures success, which warrants periodic checks.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 7","pages":"239-247"},"PeriodicalIF":0.9,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144736491","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 Heart of Myeloid: Extramedullary Chronic Myelomonocytic Leukemia-2 Presenting as a Myeloid Sarcoma of the Pericardium Causing Recurrent Pericardial Effusions. 髓系心脏:髓外慢性髓单核细胞白血病-2表现为心包髓系肉瘤,引起反复心包积液。
IF 0.9
Journal of medical cases Pub Date : 2025-07-08 eCollection Date: 2025-07-01 DOI: 10.14740/jmc5144
Austin Frisch, Rohan Boyapati, Ruja Parikh, Geetha Menezes, Niharika Tipirneni, Germame Ajebo, Danielle Shafer
{"title":"A Heart of Myeloid: Extramedullary Chronic Myelomonocytic Leukemia-2 Presenting as a Myeloid Sarcoma of the Pericardium Causing Recurrent Pericardial Effusions.","authors":"Austin Frisch, Rohan Boyapati, Ruja Parikh, Geetha Menezes, Niharika Tipirneni, Germame Ajebo, Danielle Shafer","doi":"10.14740/jmc5144","DOIUrl":"10.14740/jmc5144","url":null,"abstract":"<p><p>Chronic myelomonocytic leukemia (CMML) is a rare neoplasm that has a roughly 15-30% chance of transforming into acute myeloid leukemia (AML). Acute leukemias have been known to cause pleural or pericardial effusions but having CMML transform into AML while presenting as a cardiac myeloid sarcoma causing pericardial effusions makes this case unique. A 59-year-old patient presented to the emergency room with shortness of breath and was found to be in cardiac tamponade requiring urgent care. The thoracic surgery team performed a pericardiectomy and placed a window drain. Cardiac tissue biopsy proved cardiac myeloid sarcoma with immature blasts and myeloid cells. Initial bone marrow biopsy on admission showed hypercellularity with 19% blasts and abnormal monocytes with multilineage dysplasia on aspirate differential, with positive KRAS and TET2 mutations on next-generation sequencing analysis. There was no evidence of a BCR/ABL1 fusion on fluorescence <i>in situ</i> hybridization (FISH), and chromosomal analysis demonstrated a normal karyotype. At this time, the patient met the WHO criteria for a CMML-2 diagnosis. A follow-up bone marrow biopsy closer to discharge showed a 33% blast count pointing towards a CMML-2 transformation into AML. Remarkably, he was able to improve and was discharged from the hospital. He was admitted again to the hospital to initiate chemotherapy. Such complex cases are rarely reported. Here we discuss the diagnosis and treatment of CMML transformed into AML as well as the rarity of cardiac myeloid sarcomas with an in-depth literature review.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 7","pages":"248-253"},"PeriodicalIF":0.9,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144736488","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
B-Cell Lymphoma Presenting as a Pancreatic Mass. 表现为胰腺肿块的b细胞淋巴瘤。
Journal of medical cases Pub Date : 2025-06-30 eCollection Date: 2025-06-01 DOI: 10.14740/jmc5086
Sondos Badran, Alexander T Phan, Adelle Kanan, Viet-Tien Nguyen, Katherine Bourbeau-Medinilla
{"title":"B-Cell Lymphoma Presenting as a Pancreatic Mass.","authors":"Sondos Badran, Alexander T Phan, Adelle Kanan, Viet-Tien Nguyen, Katherine Bourbeau-Medinilla","doi":"10.14740/jmc5086","DOIUrl":"10.14740/jmc5086","url":null,"abstract":"<p><p>Non-Hodgkin lymphoma (NHL) has many subtypes, with diffuse large B-cell lymphoma being the most common subtype. Typical symptoms of NHL include fever, weight loss, night sweats, and lymphadenopathy. Treatment depends on the subtype of NHL. Our case presents the clinical course of a patient who presented with obstructive jaundice and pancreatitis rather than typical symptoms of NHL. Workup included abdominal imaging showing a pancreatic mass and biopsy ultimately revealed high-grade B-cell lymphoma. This case presents a rare diagnosis of likely primary pancreatic lymphoma.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 6","pages":"226-231"},"PeriodicalIF":0.0,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610803","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
Paraspinal Intramuscular Hemangioma at L5-S1 With Concurrent Disc Herniation. L5-S1椎旁肌内血管瘤伴并发椎间盘突出。
Journal of medical cases Pub Date : 2025-06-30 eCollection Date: 2025-06-01 DOI: 10.14740/jmc5132
Hamza Mahdi, Pat Anthony Allevato, Abdul Haseeb Naeem
{"title":"Paraspinal Intramuscular Hemangioma at L5-S1 With Concurrent Disc Herniation.","authors":"Hamza Mahdi, Pat Anthony Allevato, Abdul Haseeb Naeem","doi":"10.14740/jmc5132","DOIUrl":"10.14740/jmc5132","url":null,"abstract":"<p><p>Intramuscular hemangiomas are rare, benign vascular tumors, with very few reported cases arising in lumbar paraspinal muscles. We describe the seventh documented adult case involving a 39-year-old male presenting with acute severe right-sided S1 radiculopathy. Magnetic resonance imaging (MRI) identified an 8.0 × 3.0 × 3.3 cm lesion within the erector spinae muscles at the L5-S1 level, accompanied by concurrent right-sided L5-S1 disc herniation compressing the S1 nerve root. Conservative treatment initially alleviated radicular pain, but persistent back pain and diagnostic uncertainty necessitated further evaluation. Negative metastatic screening and an inconclusive computed tomography (CT)-guided biopsy led to surgical excision, revealing an intramuscular hemangioma with significant adipocytic stromal components. This case highlights diagnostic challenges and underscores the importance of including vascular lesions in the differential diagnosis of persistent back pain, particularly when coexisting spinal pathologies complicate clinical presentation.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 6","pages":"232-237"},"PeriodicalIF":0.0,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610816","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
Splenic Vein Thrombosis, Non-Cirrhotic Portal Hypertension, and Gastric Varices in a Patient With Ovarian Carcinoma. 卵巢癌患者脾静脉血栓形成、非肝硬化门脉高压和胃静脉曲张。
Journal of medical cases Pub Date : 2025-06-16 eCollection Date: 2025-06-01 DOI: 10.14740/jmc5127
Taylor Bowler, Lyubov Tiegs, Bryant Megna, Nabeel Azeem
{"title":"Splenic Vein Thrombosis, Non-Cirrhotic Portal Hypertension, and Gastric Varices in a Patient With Ovarian Carcinoma.","authors":"Taylor Bowler, Lyubov Tiegs, Bryant Megna, Nabeel Azeem","doi":"10.14740/jmc5127","DOIUrl":"10.14740/jmc5127","url":null,"abstract":"<p><p>The development of non-cirrhotic portal hypertension and esophagogastric varices is an uncommon, yet life-threatening complication of splenic vein thrombosis. Recognizing this association between splenic vein thrombosis and non-cirrhotic portal hypertension is critical in reducing morbidity and mortality in patients with hypercoagulable disease secondary to malignancy. Herein, we present a 45-year-old female with stage IV high-grade serous ovarian carcinoma and chronic splenic vein thrombosis found to have life-threatening esophagogastric varices secondary to non-cirrhotic portal hypertension.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 6","pages":"222-225"},"PeriodicalIF":0.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610817","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
An Unusual Cause of Neonatal Infection: A Case Report of Campylobacter coli Meningitis and Sepsis. 新生儿感染的不寻常原因:大肠弯曲杆菌脑膜炎和败血症1例报告。
Journal of medical cases Pub Date : 2025-06-16 eCollection Date: 2025-06-01 DOI: 10.14740/jmc5133
Dimitrios Kapnisis, Christodoulos Chatzigrigoriadis, Emmanouil Koufopoulos, Fevronia Kolonitsiou, Gabriel Dimitriou, Sotirios Fouzas, Panagiotis Eskitzis, Lazaros Lavasidis, Doxakis Anestakis, Despoina Sperdouli, Panagis Galiatsatos, Despoina Gkentzi
{"title":"An Unusual Cause of Neonatal Infection: A Case Report of <i>Campylobacter coli</i> Meningitis and Sepsis.","authors":"Dimitrios Kapnisis, Christodoulos Chatzigrigoriadis, Emmanouil Koufopoulos, Fevronia Kolonitsiou, Gabriel Dimitriou, Sotirios Fouzas, Panagiotis Eskitzis, Lazaros Lavasidis, Doxakis Anestakis, Despoina Sperdouli, Panagis Galiatsatos, Despoina Gkentzi","doi":"10.14740/jmc5133","DOIUrl":"10.14740/jmc5133","url":null,"abstract":"<p><p>Neonatal meningitis is associated with increased morbidity, mortality, and long-term consequences. Despite the use of newer techniques, the diagnosis remains challenging, especially in cases caused by rare pathogens. <i>Campylobacter</i> is widely known as the most common cause of bacterial gastroenteritis. However, invasive infections in neonates have been rarely described in the literature. A rare case of neonatal meningitis caused by <i>Campylobacter coli</i> is presented in this case report. A 14-day-old male and late preterm neonate without a remarkable perinatal history was admitted to our Pediatric Department with a 10-h history of fever and loose stools. The initial laboratory studies suggested the diagnosis of meningitis, but isolating the responsible pathogen in blood and cerebrospinal fluid cultures was demanding. After the cultures were repeated and incubated in microaerophilic conditions, <i>Campylobacter coli</i> was confirmed as the etiological agent. Based on antibiotic susceptibility tests, the neonate had a 21-day course of antibiotic therapy with cefotaxime, a third-generation cephalosporin, and remained healthy during the illness without experiencing any neurological sequelae. This case report highlights that rare pathogens should be considered and searched for in cases of neonatal meningitis when there is no identifiable cause with routine microbiological techniques.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 6","pages":"201-211"},"PeriodicalIF":0.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610802","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 Durable Response With Trastuzumab Deruxtecan Monotherapy in a Triple-Negative Metastatic Breast Cancer Patient With Human Epidermal Growth Factor Receptor 2 Mutation: A Long-Term Follow-Up and Literature Review. 曲妥珠单抗德鲁西替康单药治疗人类表皮生长因子受体2突变的三阴性转移性乳腺癌患者的长期持久疗效:长期随访和文献综述
Journal of medical cases Pub Date : 2025-06-16 eCollection Date: 2025-06-01 DOI: 10.14740/jmc5136
Muralidhar Idamakanti, Rani Indrani Bijjam, Manoj Kumar, Shiva Kumar Mukkamalla
{"title":"Long Durable Response With Trastuzumab Deruxtecan Monotherapy in a Triple-Negative Metastatic Breast Cancer Patient With Human Epidermal Growth Factor Receptor 2 Mutation: A Long-Term Follow-Up and Literature Review.","authors":"Muralidhar Idamakanti, Rani Indrani Bijjam, Manoj Kumar, Shiva Kumar Mukkamalla","doi":"10.14740/jmc5136","DOIUrl":"10.14740/jmc5136","url":null,"abstract":"<p><p>The human epidermal growth factor receptor 2 (HER2)/erythroblastic oncogene B2 (ERBB2) is a tyrosine kinase receptor protein that plays an important role in the pathogenesis and aggressive nature of the tumors. It is well studied in various cancers, including breast, gastric, esophageal, ovarian, lung, and endometrial cancers. It is a well-known negative prognostic indicator in breast cancer associated with decreased disease-free survival and overall survival. Breast cancer treatment has been revolutionized with the invention of targeted monoclonal antibody therapies against the HER2 receptor, particularly trastuzumab and its antibody-drug conjugates (ADCs). HER2-targeted therapies have proven to improve progression-free survival and overall survival when added to chemotherapy in adjuvant, neoadjuvant, and metastatic settings in patients who are HER2-positive. ADCs approved for breast cancer include trastuzumab emtansine (Kadcyla, T-DM1) and trastuzumab deruxtecan (Enhertu, T-DXd). With enthusiasm and reported benefit, particularly in metastatic disease, HER2-targeted therapies are now widely used in breast cancer patients classified as HER2-negative based on binary classification but categorized as \"HER2-low\" with some degree of HER2 expression. HER2-targeted therapies are not approved for patients who have HER2 (ERBB2) mutation and have no HER2 expression of any degree (immunohistochemistry (IHC) 0+). We could not find any such reported cases, research studies, or clinical trials of HER2-targeted therapies being used in patients with HER2 mutation in our extensive search of the literature. We present a rare practice-changing case of a patient with triple negative metastatic breast cancer (estrogen receptor (ER), progesterone receptor (PR), and HER2 negative, HER2 0+ on IHC) and positive HER2 mutation, who achieved a disease-free survival of more than 2.5 years with trastuzumab deruxtecan monotherapy. This case makes a compelling argument for considering HER2-targeted therapies, mainly ADCs, in HER2-mutant breast cancer patients either as a monotherapy or in combination with other therapies, particularly in metastatic disease. This case report also indicates that further research and clinical trials looking into the efficacy and safety profile of anti-HER2 treatments in HER2-mutant breast cancers are warranted.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 6","pages":"212-221"},"PeriodicalIF":0.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610815","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 Treatment of Primary Central Nervous System T-Cell Lymphoma With Induction Chemotherapy Followed by Consolidation With High-Dose Chemotherapy and Autologous Stem Cell Rescue. 诱导化疗后大剂量化疗巩固和自体干细胞抢救成功治疗原发性中枢神经系统t细胞淋巴瘤。
Journal of medical cases Pub Date : 2025-06-09 eCollection Date: 2025-06-01 DOI: 10.14740/jmc5130
Nolan Holley, Shanawar Waris, Huda Elzahrany, David Howell, Cara Randall, Adnan Saifuddin, Salah Ud Din Safi
{"title":"Successful Treatment of Primary Central Nervous System T-Cell Lymphoma With Induction Chemotherapy Followed by Consolidation With High-Dose Chemotherapy and Autologous Stem Cell Rescue.","authors":"Nolan Holley, Shanawar Waris, Huda Elzahrany, David Howell, Cara Randall, Adnan Saifuddin, Salah Ud Din Safi","doi":"10.14740/jmc5130","DOIUrl":"10.14740/jmc5130","url":null,"abstract":"<p><p>Primary central nervous system T-cell lymphoma (PCNSTL) is an exceptionally rare subtype of non-Hodgkin lymphoma, comprising only 2% of primary CNS lymphoma cases. Due to its rarity, PCNSTL is often misdiagnosed, lacks standardized treatment guidelines, and carries a poor prognosis. We present a unique case of a 59-year-old-woman with a history of hypertension and hyperlipidemia who initially presented with sudden-onset aphasia and right-sided weakness. Suspected initially of having a cerebrovascular accident (CVA), she received tenecteplase and underwent investigation of CVA, which was largely unremarkable. Six months later, she returned with progressive nausea, vomiting, confusion, and word-finding difficulties. A magnetic resonance imaging (MRI) of the brain showed lesions in the left cerebellum and frontal lobe with vasogenic edema. A suboccipital craniotomy and biopsy confirmed anaplastic lymphoma kinase (ALK)-negative anaplastic large cell lymphoma. Positron emission tomography-computed tomography (PET-CT) showed no systemic disease and cerebrospinal fluid (CSF) analysis showed lymphomatous involvement. The patient was initiated on six cycles of methotrexate, cytarabine, and thiotepa (MATRix regimen without rituximab), followed by high-dose chemotherapy (HDC) with carmustine and thiotepa and autologous stem cell transplantation (ASCT). She tolerated treatment and transplant without complications and remains in complete remission 18 months post-transplant. To our knowledge, this is the first reported case of PCNSTL treated successfully with MATRix followed by HDC-ASCT. This case highlights the importance of considering rare CNS lymphomas in patients with atypical neurologic presentations and suggests the use of HDC-ASCT as a promising approach in a disease with no established standard of care.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 6","pages":"195-200"},"PeriodicalIF":0.0,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610818","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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