European journal of case reports in internal medicine最新文献

{"title":"A Rare Tumour of the Ampulla of Vater.","authors":"Athanasios Kontos, Ioannis Tziortziotis, George Kanellis, Dimitrios Kypraios","doi":"10.12890/2026_006975","DOIUrl":"10.12890/2026_006975","url":null,"abstract":"<p><p>Primary lymphoma of the ampulla of Vater is an exceptionally rare entity that may clinically mimic more common periampullary malignancies. Duodenal involvement is uncommon among gastrointestinal lymphomas, and mucosa-associated lymphoid tissue (MALT) lymphoma at this site is particularly rare. Diagnosis is often challenging due to the submucosal location of the lesion and the limited yield of conventional endoscopic biopsies. A 59-year-old woman presented with painless obstructive jaundice, weight loss and cholestatic liver enzyme abnormalities. Abdominal computed tomography (CT) scan revealed a periampullary mass with regional lymphadenopathy, biliary dilatation and a solitary lesion in the left hepatic lobe. Endoscopic retrograde cholangiopancreatography demonstrated a deformed ampulla with ulcerated periampullary mucosa. However, repeated endoscopic biopsies were inconclusive. Definite diagnosis was established only after endoscopic ultrasound-guided fine needle biopsy (EUS-FNB) of both the primary duodenal lesion and the hepatic lesion, which demonstrated B-cell non-Hodgkin lymphoma with immunohistochemical features consistent with MALT lymphoma. Staging investigations, including positron emission tomography-CT and bone marrow biopsy, showed stage IV disease. Ampullary MALT lymphoma is an extremely rare cause of obstructive jaundice and may be indistinguishable from other ampullary or pancreatic neoplasms. This case highlights the diagnostic limitations of conventional endoscopic biopsies and the pivotal role of EUS-FNB in obtaining adequate tissue samples from deeper layers. Early and accurate diagnosis is essential, as appropriate treatment can result in excellent clinical outcomes. EUS-FNB should be considered when initial biopsies are nondiagnostic in suspected periampullary malignancies, as it may facilitate the diagnosis of rare entities such as MALT lymphoma.</p><p><strong>Learning points: </strong>MALT lymphoma is a rare subtype of non-Hodgkin lymphoma, and involvement of the ampulla of Vater is exceptionally uncommon.Obstructive jaundice is the most common clinical presentation of ampullary lymphoma.Endoscopic ultrasound-guided tissue acquisition is particularly valuable when conventional endoscopic biopsies are nondiagnostic.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 7","pages":"006975"},"PeriodicalIF":0.0,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469671","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":"Effective Treatment of Audiovestibular Involvement in Cogan's Syndrome with Biologics and Hyperbaric Oxygen Therapy.","authors":"Angelika Biadacz-Sadurska, Anna Krefta, Witold Tłustochowicz","doi":"10.12890/2026_007109","DOIUrl":"10.12890/2026_007109","url":null,"abstract":"<p><strong>Introduction: </strong>Cogan's syndrome is a rare autoimmune disease typically affecting the ocular and audiovestibular system. Inner ear involvement is associated with a poor prognosis, as despite therapy, over 50% of patients develop profound deafness. The standard treatment remains the use of high dose glucocorticosteroids and immunosuppressants. Studies from recent years have reported significantly higher rates of improvement and recovery among patients treated with biologic disease modifying antirheumatic drugs (bDMARDs), particularly infliximab.</p><p><strong>Case description: </strong>We report the case of a 39-year-old Caucasian female who experienced bilateral interstitial keratitis, sudden hearing loss, labyrinthine symptoms and arthralgia. Based on the clinical picture, Cogan's syndrome was diagnosed. Initial treatment included high doses of glucocorticosteroids which did not result in a satisfactory clinical response. Due to the high risk of permanent deafness, it was decided to administer infliximab. Simultaneously, subcutaneous methotrexate was introduced, and the patient was referred for hyperbaric oxygen therapy. Follow-up hearing tests conducted four weeks later revealed a significant improvement. As a result of the treatment, hearing normalized and labyrinthine and ophthalmological as well as systemic symptoms disappeared.</p><p><strong>Conclusion: </strong>Considering the unfavourable prognosis in Cogan's syndrome with vestibulocochlear involvement, it seems reasonable to quickly escalate treatment if there is no sufficient response to glucocorticosteroids within two weeks. Infliximab has the most documented effectiveness among DMARDs. Combining pharmacotherapy with HBOT can significantly improves treatment outcomes.</p><p><strong>Learning points: </strong><b>Improved prognosis</b> This case highlights a potential therapeutic strategy that may improve outcomes in patients with Cogan's syndrome and reduce the risk of disability.<b>Disease reminder</b> Knowledge of this rare disease is essential so that the internist, in cooperation with the otolaryngologist and ophthalmologist, can quickly make the appropriate diagnosis and implement intensive treatment.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 7","pages":"007109"},"PeriodicalIF":0.0,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469653","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":"Melanosis Ilei Secondary to Chronic Iron Supplementation.","authors":"Tya Youssef, Karim Zodeh, Nawaf Jurdi, Mahmoud Othman","doi":"10.12890/2026_006578","DOIUrl":"10.12890/2026_006578","url":null,"abstract":"<p><p>Melanosis ilei is an uncommon, benign condition characterized by dark pigmentation of the terminal ileal mucosa. Usually asymptomatic, it is frequently found incidentally during endoscopic examination. We report a 42-year-old female with iron deficiency anaemia receiving oral iron treatment who had a colonoscopy and gastroscopy as part of anaemia workup. The results of the colonoscopy and gastroscopy were uneventful, but deep intubation of the terminal ileum showed many distinct to confluent dark brown pigmented areas that seemed peppered and speckled. Melanosis ilei was confirmed by the histopathology of ileal samples, which showed pigment-laden macrophages in the lamina propria. This etiology was attributed to long-term iron supplementation. Recognition of the characteristic endoscopic and histopathologic features of melanosis ilei is important to prevent misdiagnosis and unnecessary interventions.</p><p><strong>Learning points: </strong>Recognizing melanosis ilei as a benign consequence of chronic iron therapy provides a critical diagnostic shortcut, allowing internists to confidently differentiate 'pseudomelanosis' from life-threatening intestinal ischemia and avoid the morbidity associated with unnecessary surgical consultations or aggressive workups.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 7","pages":"006578"},"PeriodicalIF":0.0,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469620","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":"Fulminant Evans Syndrome and Splenic Infarction As Initial Manifestations of Poems Syndrome with Monoclonal Kappa Light Chain Restriction: A Diagnostic and Therapeutic Challenge.","authors":"Mohamed Reda Belkhribchia, Jean-Michel Vallat, Taoufik Lahoucine, Aurore Danigo, Youssef Chaoui, Mounir Rhounimi, Khalil Chafi","doi":"10.12890/2026_006921","DOIUrl":"10.12890/2026_006921","url":null,"abstract":"<p><strong>Introduction: </strong>Autoimmune cytopenias have been very rarely reported in conjunction with POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes syndrome). To the best of our knowledge, there is no reported case in the existing literature of an association of Evans syndrome with POEMS syndrome.</p><p><strong>Case description: </strong>A 55-year-old female patient, with a medical history of well-controlled dermatomyositis, developed fulminant autoimmune haemolytic anaemia with immune thrombocytopenic purpura, thus fulfilling the diagnosis of Evans syndrome. To control the disease, acute management required supportive measures in the intensive care unit, repeated transfusions of red blood cells and platelets, high- dose intravenous corticosteroids, a bolus of cyclophosphamide, and splenectomy. Three days post-splenectomy, the patient developed, subacutely, full-blown POEMS syndrome. Therefore, the diagnosis of coexisting secondary Evans syndrome and POEMS syndrome was made. Notably, the monoclonal kappa light chain restriction and multiple splenic infarctions were distinctive features in our patient. Due to procurement issues of lenalidomide, we opted for monthly parenteral cyclophosphamide and autologous stem cell transplantation was programmed.</p><p><strong>Conclusion: </strong>This case highlights that severe secondary Evans syndrome can coexist with POEMS syndrome, leading to challenges in diagnosis and management.</p><p><strong>Learning points: </strong>Severe secondary Evans syndrome can coexist with POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome.High doses of corticosteroids required for the acute management of Evans syndrome may artificially lower the genuine value of serum vascular endothelial growth factor in the context of associated POEMS syndrome.In atypical circumstances like in our case (associated Evans syndrome, kappa light chain restriction), the nerve biopsy is critical to exclude differential diagnoses and confirm typical characteristics of POEMS syndrome- related polyneuropathy.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 7","pages":"006921"},"PeriodicalIF":0.0,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469683","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":"Sacubitril/Valsartan and Elevated Prothrombin Time/International Normalized Ratio in the Absence of Anticoagulant Therapy: A Newly Recognized Potential Adverse Drug Reaction.","authors":"Tanuj Diyora, Ayush Ranajn","doi":"10.12890/2026_006801","DOIUrl":"10.12890/2026_006801","url":null,"abstract":"<p><strong>Introduction: </strong>Sacubitril/valsartan is the first approved angiotensin receptor-neprilysin inhibitor (ARNI) and a cornerstone therapy for heart failure with reduced ejection fraction (HFrEF). While its clinical benefits are well established, adverse drug reactions (ADRs) beyond the recognized profile of hypotension, hyperkalaemia, and renal impairment remain incompletely characterized.</p><p><strong>Case description: </strong>We report a case of isolated elevation in prothrombin time (PT) and international normalized ratio (INR) in a 58-year-old male with HFrEF receiving sacubitril/valsartan 49/51 mg twice daily, without any concurrent anticoagulant therapy. Approximately 6 weeks after initiation, PT was 18.4 seconds and INR was 1.7. Temporary discontinuation (dechallenge) led to normalization within 2 weeks; cautious re-challenge resulted in recurrent INR elevation. Naranjo Adverse Drug Reaction Probability Scale criteria yielded a score of +9, consistent with a probable drug-induced adverse event.</p><p><strong>Conclusion: </strong>This case highlights a potentially underrecognized coagulopathic ADR associated with sacubitril/valsartan, manifesting as elevated PT/INR without anticoagulant use. Clinicians should consider periodic coagulation monitoring in patients on ARNI therapy. Further pharmacovigilance studies and mechanistic investigations are strongly warranted.</p><p><strong>Learning points: </strong>Sacubitril/valsartan may cause isolated elevation of prothrombin time and international normalized ratio in the absence of anticoagulant therapy, liver disease, or vitamin K deficiency; a potentially underrecognized adverse drug reaction (ADR).The dechallenge-rechallenge pattern, together with a Naranjo score of +9, provides robust pharmacovigilance evidence implicating angiotensin receptor-neprilysin inhibitor therapy as the causative agent and supports baseline and periodic coagulation monitoring.Clinicians prescribing sacubitril/valsartan should be vigilant for this coagulopathic ADR, especially in patients at elevated bleeding risk, and should report cases to pharmacovigilance registries to facilitate systematic signal detection.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006801"},"PeriodicalIF":0.0,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210655","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":"Golimumab-Associated Myocarditis with Progressive Eosinophilia after Route Switch in Rheumatoid Arthritis.","authors":"Stephanie Ammari, Nawras Ibrahim","doi":"10.12890/2026_006759","DOIUrl":"10.12890/2026_006759","url":null,"abstract":"<p><strong>Introduction: </strong>Tumour necrosis factor-alpha (TNF-α) inhibitors are cornerstone therapies in rheumatoid arthritis (RA) and generally reduce cardiovascular events. Drug-induced myocarditis associated with TNF-α inhibitors is not well-established in pharmacovigilance databases.</p><p><strong>Case description: </strong>A 51-year-old male with seropositive RA receiving intravenous golimumab presented with acute chest pain, dyspnoea, and left arm numbness without viral prodrome. He had been switched from subcutaneous to intravenous golimumab 6 months prior, producing a 14-fold increase in peak serum concentration. High-sensitivity troponin I peaked at 32,419 ng/l with mildly reduced left ventricular ejection fraction (45-49%) and global hypokinesis. Coronary angiography revealed non-obstructive arteries. Comprehensive viral serology was negative for acute infection. Inflammatory markers were normal. Progressive eosinophilia developed during hospitalization (0.12 → 0.54 ×10³/μl). Cardiac magnetic resonance imaging was unavailable at our institution. Despite not initiating prescribed sacubitril/valsartan (continuing only metoprolol), repeat echocardiography at 4 weeks demonstrated complete normalization of left ventricular function; coinciding with near-complete drug elimination. Golimumab was permanently discontinued.</p><p><strong>Conclusion: </strong>This case meets criteria for clinically suspected myocarditis per the 2024 American College of Cardiology Expert Consensus Decision Pathway. The absence of viral prodrome, negative viral serology, progressive eosinophilia, normal inflammatory markers, and complete functional recovery paralleling drug elimination support drug-induced hypersensitivity myocarditis. Causality assessment yields \"probable\" by both the World Health Organization - Uppsala Monitoring Centre system and the Naranjo algorithm (score 6 to 8). This case contributes to the limited literature on TNF-α inhibitor cardiotoxicity and emphasizes the need for continued pharmacovigilance.</p><p><strong>Learning points: </strong>Tumour necrosis factor-alpha inhibitor-associated myocarditis is exceptionally rare; clinicians should consider this diagnosis in patients presenting with acute troponinemia and non-obstructive coronary arteries while receiving biologic therapy.Switching from subcutaneous to intravenous golimumab produces an approximately 14-fold increase in peak serum concentration (C_max 44.4 vs. 3.2 μg/ml), which may theoretically contribute to immune sensitization and delayed hypersensitivity myocarditis.Progressive peripheral eosinophilia in the setting of acute myocardial injury without viral prodrome should raise suspicion for drug-induced hypersensitivity myocarditis, even when the offending agent was administered weeks prior.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006759"},"PeriodicalIF":0.0,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210635","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 Cytomegalovirus Optic Neuritis in an Immunocompetent Patient.","authors":"Vasileios Petrakis, Christina Aggelopoulou, Georgios Tartanis, Soultana Tsakaldimi, Maria Panopoulou, Anastasia Grapsa, Panagopoulos Periklis","doi":"10.12890/2026_006826","DOIUrl":"10.12890/2026_006826","url":null,"abstract":"<p><strong>Introduction: </strong>Cytomegalovirus (CMV) typically causes asymptomatic or mild, self-limiting infections in immunocompetent individuals. Severe end-organ disease, particularly isolated central nervous system or ocular involvement, is associated with significant immunosuppression. Isolated optic neuritis due to CMV in a healthy, immunocompetent host is a rare clinical entity, which can lead to delayed diagnosis and potential vision loss.</p><p><strong>Case description: </strong>We report a rare case of a previously healthy 25-year-old male who presented with a 3-day history of intermittent right retrobulbar pain and was found to have early bilateral optic disc oedema. Best-corrected visual acuity was 9/10 in the right eye, with normal colour vision and no relative afferent pupillary defect. An extensive neurological, immunological, and infectious disease workup was negative for autoimmune and demyelinating conditions. However, serological testing revealed positive immunoglobulin M and immunoglobulin G titres for CMV. Concurrent polymerase chain reaction (PCR) testing detected CMV viremia in both blood and cerebrospinal fluid (CSF), confirming an active CMV infection with central nervous system involvement. The patient was treated with high-dose intravenous corticosteroids and systemic antiviral therapy with valganciclovir leading to a complete clinical and anatomical recovery and no clinical relapse during the follow-up period.</p><p><strong>Conclusion: </strong>This case highlights that severe CMV neuroretinal manifestations can occur in strictly immunocompetent patients. Prompt molecular diagnostic testing, specifically CSF and blood PCR, is crucial when atypical optic neuritis is encountered. A combined regimen of antiviral therapy and high-dose corticosteroids represents a highly effective, organ-saving approach for managing CMV-induced optic neuritis.</p><p><strong>Learning points: </strong>Cytomegalovirus must be included in the differential diagnosis of acute optic neuritis and bilateral optic disc oedema, even in young, strictly immunocompetent patients without concurrent retinitis or prior immunosuppression.The utilization of polymerase chain reaction to detect viral copies in both blood and cerebrospinal fluid is essential for confirming active systemic and central nervous system viral involvement.The management of viral optic neuritis may necessitate a dual pharmacological strategy. High-dose corticosteroids are crucial to rapidly suppress tissue-damaging inflammation behind an intact blood-brain barrier, while systemic antiviral therapy is required to eradicate the underlying viral load and prevent clinical relapse.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 7","pages":"006826"},"PeriodicalIF":0.0,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469541","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":"Multifocal Colonic Mastocytosis Mimicking Ischaemic Colitis: A Rare Cause of Lower Gastrointestinal Bleeding.","authors":"Karam Karam, Kim Charro, Aurélien Morini, Emilien Brousset, Christophe Locher","doi":"10.12890/2026_006523","DOIUrl":"10.12890/2026_006523","url":null,"abstract":"<p><strong>Introduction: </strong>Mastocytosis is a rare clonal disorder characterised by abnormal proliferation and accumulation of mast cells in one or more organs. Although gastrointestinal symptoms are common in systemic mastocytosis, direct mucosal infiltration by neoplastic mast cells is uncommon and remains poorly characterised. Isolated involvement of the colon is exceptionally rare and may present with non-specific clinical and endoscopic findings.</p><p><strong>Case description: </strong>We report the case of a 59-year-old male presenting with recurrent rectorrhagia without associated gastrointestinal symptoms or relevant medical history. Colonoscopic examination revealed mucosal changes suggestive of ischaemic colitis. Histopathological evaluation of colonic biopsies demonstrated dense aggregates of mast cells within the lamina propria and muscularis mucosae. The cells exhibited characteristic morphology with oval to spindle-shaped forms, abundant cytoplasm containing basophilic granules and centrally located hyperchromatic nuclei. Immunohistochemical analysis showed strong positivity for CD117 (KIT) and tryptase, while CD25 and CD138 were negative. No significant increase in eosinophils or lymphocytic infiltrates was observed in adjacent mucosa. These findings were consistent with multifocal colonic mastocytosis in the absence of evidence of systemic disease.</p><p><strong>Conclusion: </strong>Colonic mastocytosis is an exceedingly rare entity that may mimic other gastrointestinal disorders both clinically and endoscopically. Histological examination with immunohistochemical confirmation is essential for accurate diagnosis. Increased awareness of this rare presentation is important for appropriate evaluation and follow up, given the potential risk of progression to systemic mastocytosis.</p><p><strong>Learning points: </strong>Gastrointestinal mastocytosis is rare and may present without systemic manifestations.Colonic involvement is exceptionally uncommon and may mimic ischaemic or inflammatory colitis on endoscopy.Histology with immunohistochemical staining (CD117 and tryptase) is essential for diagnosis.Long-term follow up is recommended to monitor for potential progression to systemic mastocytosis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006523"},"PeriodicalIF":0.0,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210620","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":"From Solid Organ Malignancies to Dual Leukaemias: Sequential CLL and CML in a Cancer Survivor.","authors":"Sukhmani Sidhu, Ramzi Hamouche, Victoria Forbes","doi":"10.12890/2026_006813","DOIUrl":"10.12890/2026_006813","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic lymphocytic leukaemia (CLL), the most common adult leukaemia is known to undergo Richter's transformation. However, transformation into myeloid neoplasms is extremely rare with no established pathogenetic mechanisms. Management of coexisting haematological neoplasms becomes more complex in the presence of prior solid organ malignancies, potential therapy-related complications, and immunosuppression.</p><p><strong>Case description: </strong>An 83-year-old man with prior history of invasive bladder cancer (s/p chemotherapy and cystectomy in 2013) and pancreatic adenocarcinoma treated with Whipple's procedure in 2015 was diagnosed with CLL in 2015 without 17p deletion. He began treatment with Ibrutinib in 2018 due to bulky symptomatic adenopathy and later switched to acalabrutinib due to arthralgias. Following a hospitalization in 2022 for coronavirus disease 2019, he was found to have chronic myeloid leukaemia (CML), confirmed by BCR-ABL positivity and bone marrow biopsy. Imatinib was started for CML but due to potential drug-induced pulmonary toxicity, switched to asciminib. His BCR-ABL transcript was undetectable, and therapy was discontinued due to multiple hospitalizations with organizing pneumonia. His course was further complicated by neutropenic fever and hypogammaglobulinemia and he transitioned to hospice care for better quality of life. Thus, both CLL and CML were treated with targeted oral agents.</p><p><strong>Conclusion: </strong>This report highlights concurrent CLL and CML in a patient with multiple prior malignancies treated with chemotherapy and surgical interventions. It also adds to the limited literature on the CLL to CML overlap, suggesting vigilant long-term surveillance in cancer survivors. Coexisting management of haematological malignancies need careful weighing of individual toxicity profiles of medications tailored to individual patient.</p><p><strong>Learning points: </strong>Chronic lymphocytic leukaemia (CLL) most commonly transforms into aggressive lymphoma; development of chronic myeloid leukaemia (CML) in a patient with CLL should prompt evaluation for an independent myeloid clone rather than presumed transformation.Myeloid neoplasms in patients with CLL may arise from therapy-related leukemogenesis or divergent evolution from a shared hematopoietic progenitor, highlighting the importance of molecular characterization.Management of coexisting CLL and CML requires individualized risk-benefit assessment, particularly in elderly patients with prior solid tumours and immune dysfunction.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006813"},"PeriodicalIF":0.0,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210749","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":"Metastatic Mixed Germ Cell Tumour in a Patient with Cryptorchidism and Persistent Müllerian Duct Syndrome.","authors":"Hassane Ait Ali, Ayoub Kharkhach, Tariq Bouhout, Badr Serji","doi":"10.12890/2026_006547","DOIUrl":"10.12890/2026_006547","url":null,"abstract":"<p><strong>Introduction: </strong>Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sexual development characterized by the persistence of Müllerian structures, such as the uterus and fallopian tubes, in phenotypically and genotypically normal males. It is usually identified during surgical interventions for cryptorchidism or inguinal hernias, and rarely during cancer of the ectopic testis.</p><p><strong>Case description: </strong>We present the case of a 32-year-old male with a history of right cryptorchidism and hypospadias who presented with a metastatic germ cell tumour of the testis. Following systemic chemotherapy, the patient underwent midline laparotomy to remove all residual tumours. During the surgery, PMDS was unexpectedly diagnosed. Postoperative karyotyping confirmed a 46, XY genotype with a pathogenic defect in the anti-Müllerian hormone type II receptor (AMHR-II).</p><p><strong>Discussion: </strong>Interestingly, germ cell tumours have been reported in up to 33% of patients with PMDS, suggesting that the syndrome may confer an elevated risk of malignant transformation beyond that attributable to cryptorchidism alone. This case highlights the significant clinical association between PMDS and testicular germ cell tumours.</p><p><strong>Conclusion: </strong>This case emphasizes that clinicians should consider underlying PMDS when cryptorchidism is accompanied by additional anomalies, such as hypospadias, particularly in adults presenting with testicular masses.</p><p><strong>Learning points: </strong>The occurrence of a metastatic mixed germ cell tumour in a patient with untreated cryptorchidism, hypospadias, and underlying persistent Müllerian duct syndrome is rare.It is important to consider disorders of sex development when evaluating adult males with testicular malignancy and a history of genitourinary anomalies.A collaborative approach involving urology, oncology, radiology, and genetics is essential for accurate diagnosis and optimal management.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006547"},"PeriodicalIF":0.0,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210674","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}