Case Reports In Hematology[JOURNAL]
Sun
200 papers
A Rare Case of Severe Cold Autoimmune Hemolytic Anemia in a Hemochromatosis Carrier.
Franco JH, Jindal PK, Jaggernauth S … +2 more , Sultan F, Garg A
Case Rep Hematol · 2026 · PMID 41768528 · Full text
Cold autoimmune hemolytic anemia (cAIHA) is a rare form of anemia characterized by antibody-mediated red blood cell destruction at low temperatures (i.e., below 98.6°F or 37°C). Patients with severe cAIHA exhibit hemoglo...
Cold autoimmune hemolytic anemia (cAIHA) is a rare form of anemia characterized by antibody-mediated red blood cell destruction at low temperatures (i.e., below 98.6°F or 37°C). Patients with severe cAIHA exhibit hemoglobin levels under 8 g/dL. Affected patients present with hepatosplenomegaly, hypotension, tachycardia, and an increased risk of death with a 5-year survival rate of 63.5%. Treatment with immunosuppressants and lifestyle modifications can improve cAIHA symptoms. However, the presence of a concurrent disease process can worsen clinical outcomes. In our report, we discuss the clinical management of acute decompensated cirrhosis secondary to heterozygous hemochromatosis complicated by cAIHA. Hemochromatosis is characterized by increased iron deposition that results in organ dysfunction. On admission, the patient presented with anemia, weight loss, and ascites. Although heterozygous hemochromatosis is typically asymptomatic, the presence of cAIHA appears to have contributed to the patient's liver dysfunction. Requiring different treatment regimens, the case underscores the difficulty of managing multiple rare hematological conditions.
Diagnosis and Management of Plummer-Vinson Syndrome in a Female Ghanaian.
Fiawoo D, Tandoh T, Olayemi E
Case Rep Hematol · 2026 · PMID 41756818 · Full text
Plummer-Vinson syndrome (PVS), also known as Paterson-Brown Kelly syndrome, is a clinical condition that is characterized by the triad of iron deficiency anemia, dysphagia and oesophageal web. This condition is rare and...
Plummer-Vinson syndrome (PVS), also known as Paterson-Brown Kelly syndrome, is a clinical condition that is characterized by the triad of iron deficiency anemia, dysphagia and oesophageal web. This condition is rare and is diagnosed more in middle aged to older white women. However, in some studies, younger individuals have also been found to have this condition. We present a 26-year-old woman with a 5-year history of progressive difficulty in swallowing and a long history (approximately 18 years) of iron deficiency anaemia and has been on intermittent iron supplementation. A barium swallow showed narrowing in the upper third of the oesophagus, and she underwent serial dilatation of the oesophageal web stenosis and iron therapy with resultant improvement in the dysphagia. This patient was found to be pregnant 3 months postdiagnosis of PVS. The prevalence of PVS has decreased due to early diagnosis of iron deficiency and repletion of iron stores.
Splenic Embolization to Manage Thrombocytopenia in Cancer Patients: Case Reports and Review of the Literature.
Ridha Z, Tan KT, Connolly M … +3 more , Yelamanchili R, VanderMeer R, Refaei M
Case Rep Hematol · 2026 · PMID 41693919 · Full text
Thrombocytopenia is a common complication of cancer and its management. Platelet count guides patients' cancer treatment, as a safe threshold is required before initiating a chemotherapy regimen. Preventing thrombocytope...
Thrombocytopenia is a common complication of cancer and its management. Platelet count guides patients' cancer treatment, as a safe threshold is required before initiating a chemotherapy regimen. Preventing thrombocytopenia in cancer patients is essential to avoid dose reduction or delay of chemotherapy. Partial splenic embolization (PSE) is a procedure that can increase platelet count in cancer patients, allowing them to initiate/resume chemotherapy and receive other treatments such as surgery and tumor ablation. Herein, we report two cases of cancer patients that underwent a PSE to improve thrombocytopenia in order to receive chemotherapy. One patient had a successful procedure, although they had a recurrence of thrombocytopenia 18 months later requiring repeat PSE. The other patient suffered serious complications as a result of unintentional total embolization of the spleen and the tail of the pancreas, resulting in necrotizing pancreatitis that rendered her unable to start chemotherapy. We analyzed both cases to provide insight on the safety and effectiveness of the procedure for cancer patients.
Hemophagocytic Lymphohistiocytosis Secondary to Disseminated Bacillus Calmette-Guérin (BCG): A Steroid-Sparing Strategy in a Patient Awaiting Cardiac Surgery-A Case Report.
Quinlan K, MacDonald T, Wuerz TC … +1 more , Zarychanski R
Case Rep Hematol · 2026 · PMID 41668968 · Full text
We report a case of hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated Bacillus Calmette-Guérin (BCG) infection in an 80-year-old man treated with intravesical BCG for non-muscle-invasive bladder cancer....
We report a case of hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated Bacillus Calmette-Guérin (BCG) infection in an 80-year-old man treated with intravesical BCG for non-muscle-invasive bladder cancer. The patient presented with several weeks of constitutional symptoms including night sweats, fatigue, weight loss, confusion, and pancytopenia. Laboratory studies revealed profound inflammation, coagulopathy, and hepatocellular injury. HLH was suspected clinically and supported by a high H-score. Extensive infectious and autoimmune workup was negative. was subsequently isolated from urine and bone marrow cultures, which confirmed a diagnosis of disseminated BCG infection. The patient was treated with a combination of antimycobacterial therapy (isoniazid, rifampin, and ethambutol), intravenous immunoglobulin (IVIG), corticosteroids, and anakinra. Anakinra, an interleukin-1 receptor antagonist, was used both to minimize high-dose steroids, given the protracted inflammatory response anticipated with infection, and to prevent steroid-related complications related to cardiac surgery. This therapeutic strategy was associated with improvement of cytopenias, normalization of inflammatory markers, and gradual clinical recovery. This case highlights the rare but serious complication of HLH triggered by disseminated BCG and suggests that targeted immunomodulation with anakinra may be a useful adjunct in selected, complex presentations of infection-associated HLH.
Beta-Thalassemia Major Complicated by Streptococcal Toxic Shock Syndrome: A Rare Case of Survival and Successful Management.
Saeedi F, Aljehani MA
Case Rep Hematol · 2026 · PMID 41668967 · Full text
Beta-thalassemia is an inherited blood disorder associated with defective hemoglobin production and impaired immunity, increasing susceptibility to severe infections. poses a significant risk due to its potential to cau...
Beta-thalassemia is an inherited blood disorder associated with defective hemoglobin production and impaired immunity, increasing susceptibility to severe infections. poses a significant risk due to its potential to cause streptococcal toxic shock syndrome (STSS), a life-threatening condition characterized by fever, shock, and multiorgan failure. We report a rare survival case of a nine-year-old child with beta-thalassemia major who developed STSS secondary to . The patient presented with fever, neck swelling, hematemesis, and hypovolemic shock, requiring urgent resuscitation and intensive care unit admission. Laboratory tests revealed pancytopenia and renal dysfunction, and neck CT showed diffuse lymphadenopathy and fluid collection. A nasal discharge culture confirmed as the cause. The patient received empirical antibiotics, intravenous immunoglobulin (two doses), and supportive care, leading to clinical recovery. The neck swelling resolved, and ultrasound confirmed no residual fluid collection. This case highlights the critical need for early recognition and aggressive management in beta-thalassemia patients with severe infections.
Successful Management of Relapsed Severe Immune Thrombocytopenia Using Avatrombopag: A Case Report.
Almutairi S, Warsi A, Hejazi A … +5 more , Melibari E, Jar R, Almutairi A, Abughasham A, Firaque N
Case Rep Hematol · 2026 · PMID 41659023 · Full text
Immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterized by increased platelet destruction and impaired platelet production. While thrombopoietin receptor agonists (TPO-RAs), including romiplostim a...
Immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterized by increased platelet destruction and impaired platelet production. While thrombopoietin receptor agonists (TPO-RAs), including romiplostim and eltrombopag, have significantly improved ITP management, some patients remain relapsed to multiple lines of therapy, necessitating alternative approaches. Avatrombopag, a second-generation TPO-RA, has shown promising efficacy and a favorable safety profile, yet its role in cases unresponsive to prior TPO-RAs remains underexplored. We report the case of a 37-year-old woman with relapsed severe ITP, unresponsive to corticosteroids, IVIG, rituximab, romiplostim, eltrombopag, vincristine, cyclosporine, and splenectomy. Despite multiple treatments, her platelet count remained critically low, with persistent bleeding symptoms. Given the failure of standard therapies, avatrombopag was initiated at 20 mg daily, resulting in a rapid platelet response, increasing from 14 × 10/L to 72 × 10/L within 9 days. The platelet count peaked at 848 × 10/L, necessitating dose adjustments, after which it stabilized within the target range (100-300 × 10/L). The patient tolerated avatrombopag well, with no thromboembolic events or significant adverse effects reported. This case demonstrates the efficacy of avatrombopag in a patient unresponsive to multiple prior therapies, including other TPO-RAs and splenectomy. Further studies are warranted to determine optimal treatment sequencing and long-term outcomes for patients in this challenging subgroup.
Breast Implant-Associated Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma.
Maerten T, Seijnhaeve E, Bernard W … +2 more , André M, Crochet G
Case Rep Hematol · 2026 · PMID 41659022 · Full text
Breast implant-associated diffuse large B-cell lymphoma (BIA-DLBCL) is an extremely rare entity, often misdiagnosed as breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). Unlike BIA-ALCL, which is a T-ce...
Breast implant-associated diffuse large B-cell lymphoma (BIA-DLBCL) is an extremely rare entity, often misdiagnosed as breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). Unlike BIA-ALCL, which is a T-cell neoplasm, BIA-DLBCL shows B-cell immunophenotype and is frequently associated with Epstein-Barr virus (EBV). Few cases have been reported and its optimal management remains unclear. We report the case of a 45-year-old woman with a history of breast augmentation surgery using textured silicone implants. She presented with left breast pain and deformity. Histopathological examination of the periprosthetic capsule revealed large atypical lymphoid cells, expressing CD20, CD19, PAX5, CD79a, and CD30, with EBV RNA positivity and absence of T-cell markers. There was no capsular rupture. PET-CT scanning showed hypermetabolic activity around the implant and ipsilateral axillary lymphadenopathy, without systemic involvement. A diagnosis of BIA-DLBCL was retained. The patient underwent total capsulectomy without adjuvant therapy. At 30-month follow-up, she remains in complete clinical and radiological remission. BIA-DLBCL is an increasingly reported entity which in most cases can be classified within the spectrum of fibrin-associated large B-cell lymphoma (FA-LBCL). While surgical excision alone may be sufficient for localized disease, the rarity of this lymphoma highlights the urgent need for more comprehensive data, particularly long-term survival outcomes, to refine classification and therapeutic recommendations.
Delayed-Onset Hemolysis in a Case of Hemolytic Uremic Syndrome: A Diagnostic Challenge.
Younas M, Fatima N, Naveed Z … +1 more , Nafisa S
Case Rep Hematol · 2026 · PMID 41640510 · Full text
BACKGROUND: Hemolytic uremic syndrome is a rare thrombotic microangiopathy characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. While commonly reported in children, adult-onset presentations are...
BACKGROUND: Hemolytic uremic syndrome is a rare thrombotic microangiopathy characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. While commonly reported in children, adult-onset presentations are less frequent and often atypical, leading to diagnostic delays. This case underscores the importance of repeated evaluation when classical features are absent initially. CASE PRESENTATION: A 50-year-old woman was admitted with diarrhea, vomiting, abdominal pain, and visible hematuria. Initial findings included severe thrombocytopenia and Stage 3 acute kidney injury but no evidence of hemolysis. Blood cultures grew sensitive to piperacillin-tazobactam. Despite intensive care management for septic shock, renal function deteriorated and renal replacement therapy was required. On Day 9 of admission, delayed hemolysis became evident with schistocytes on blood smear, undetectable haptoglobin, and hemoglobin decline from 125 g/L at baseline to 87 g/L. These findings confirmed delayed-onset hemolytic uremic syndrome. ADAMTS13 activity was not tested because TTP was considered clinically unlikely based on stable coagulation parameters and absence of neurological features. Supportive care, including renal replacement therapy and blood products, was provided, and the patient's renal function normalized before discharge. CONCLUSION: This case highlights the diagnostic complexity of adult-onset hemolytic uremic syndrome, particularly when hemolysis develops late. Clinicians should maintain a high index of suspicion in adults presenting with unexplained acute kidney injury and thrombocytopenia, even in the absence of early hemolytic markers. Serial blood film reviews and multidisciplinary input are essential to avoid missed or delayed diagnosis. Early recognition enables timely supportive care and consideration of targeted therapies to prevent irreversible renal damage and long-term complications.
Radioresistant but Alectinib-Responsive Isolated Intramedullary ALK-Positive Histiocytosis.
Allen JV, Raggay D, Killory B … +2 more , DiGiuseppe J, Dailey M
Case Rep Hematol · 2026 · PMID 41635628 · Full text
A 56-year-old woman with a history of C4-C5 myelomeningocele repair as a newborn and cervical syringomyelia presented with one week of rapidly worsening bilateral lower extremity weakness and numbness, saddle anesthesia,...
A 56-year-old woman with a history of C4-C5 myelomeningocele repair as a newborn and cervical syringomyelia presented with one week of rapidly worsening bilateral lower extremity weakness and numbness, saddle anesthesia, and bladder incontinence. MRI of the entire spine revealed a 1.5 × 0.5 cm homogenously enhancing intramedullary lesion at T7-T8 with associated cord edema and rostral syrinx formation. MRI of the brain and FDG PET-CT scan were unremarkable. She was taken to the operating room for a T6-T8 laminectomy and biopsy. H&E staining revealed a relatively dense mononuclear-cell infiltrate, which comprised numerous medium-sized cells with round, irregular, or reniform nuclei, slightly dispersed chromatin, and relatively abundant eosinophilic, and occasionally, somewhat vacuolated cytoplasm. Immunohistochemical staining was strongly positive for CD163, PU.1, CD68, and ALK. FISH studies demonstrated ALK rearrangement in 70% of nuclei. Next-generation sequencing including both DNA and RNA testing on a formalin-fixed, paraffin-embedded tissue sample detected a KIF5B/ALK gene fusion. She received radiotherapy with 2000 cGY in 200 cGy fractions to T6-T9 with no change in lesional size or enhancement. She was started on the ALK inhibitor alectinib. Subsequent MRI showed a complete response. She has had no evidence of disease recurrence on alectinib for 18 months. ALK-positive histiocytosis is a recently described distinct clinicopathologic entity. Our case is notable for older age at diagnosis, isolated intramedullary involvement, and radioresistance but later marked targeted-therapy response, thus furthering the understanding of the spectrum of ALK-positive histiocytosis biology.
Extravasation of Intravenous Iron: Clinical Features and Therapeutic Considerations.
Ada Özcan B, Yılmaz F, Gündoğdu A … +2 more , Tazegul G, Odabaşı Z
Case Rep Hematol · 2026 · PMID 41624690 · Full text
Iron deficiency anemia is a common condition that can be effectively treated with intravenous iron supplementation; however, extravasation during administration represents a relevant adverse effect. This case series pres...
Iron deficiency anemia is a common condition that can be effectively treated with intravenous iron supplementation; however, extravasation during administration represents a relevant adverse effect. This case series presents three patients with varying underlying conditions who experienced iron extravasation following ferric carboxymaltose infusion. The extent and timing of skin discoloration varied, with some patients developing immediate discoloration and others noticing them several days postinfusion. Despite extravasation, two of the three patients demonstrated improvement in their anemia without additional treatment during follow-up. This series highlights the need for preventive strategies, such as careful infusion techniques, patient education, and prompt action when extravasation occurs. Equally important, accurate documentation and continuing education for healthcare professionals are essential to ensure consistent recognition and management. Further studies are required to clarify the impact of extravasation on therapeutic efficacy and to optimize the balance between treatment benefits and potential risks.
Relapse of Acute Myeloid Leukemia With Concomitant Systemic Mastocytosis Five Years Post Allogenic Hematopoietic Stem Cell Transplantation.
Vardanyan S, Gjelberg HK, Helgeland L … +3 more , Tsykunova G, Forthun RB, Reikvam H
Case Rep Hematol · 2026 · PMID 41624689 · Full text
Systemic mastocytosis (SM) with associated hematological neoplasia (SM-AHN) is a rare and aggressive condition characterized by abnormal clonal proliferation of mast cells and the concurrent occurrence of hematologic mal...
Systemic mastocytosis (SM) with associated hematological neoplasia (SM-AHN) is a rare and aggressive condition characterized by abnormal clonal proliferation of mast cells and the concurrent occurrence of hematologic malignancies, such as acute myeloid leukemia (AML). We present a 41-year-old female diagnosed with SM-AML, who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT). Despite an initial favorable response to chemotherapy and transplantation, the patient later experienced an AML relapse five years post-transplant, without concurrent recurrence of SM. This discrepancy may be attributed to the differential immune responses to AML and SM, where AML cells are more susceptible to graft-versus-leukemia (GVL) effects, while mast cells in SM may exhibit resistance to immune-mediated elimination. The absence of SM relapse raises important questions regarding the pathophysiology and treatment of SM-AML. This case underscores the complexity of managing SM with AML, highlighting the need for further research to optimize therapeutic strategies and improve patient outcomes.
Hematological Malignancies With Multiple Primary Cancers: A Rare Case Presentation.
Mahapatra S, Samal P, Samal A … +3 more , Pandey T, Suse N, Mandava B
Case Rep Hematol · 2026 · PMID 41624688 · Full text
BACKGROUND: Two or more primary cancers that arise in two different patients are referred to as multiple primary cancers. We record those cases because optimal therapy requires interdisciplinary cooperation. CASE 1: A 53...
BACKGROUND: Two or more primary cancers that arise in two different patients are referred to as multiple primary cancers. We record those cases because optimal therapy requires interdisciplinary cooperation. CASE 1: A 53-year-old male presented with intermittent hematuria for one year, fever, burning micturition, appetite loss, and a 3 kg weight loss over 2 months. His CBC showed 81% atypical cells, and bone marrow aspiration and flow cytometry indicated Precursor B-ALL. He started on the BFM-2002-protocol but had persistent hematuria. The USG of the whole abdomen revealed a urinary bladder mass. TURBT and histopathology confirmed low-grade, noninvasive papillary urothelial neoplasm. Thus, he was diagnosed with Precursor B-ALL and Low-Grade Papillary Urothelial Neoplasm Noninvasive. CASE 2: A 53-year-old male with a history of anaplastic oligodendroglioma (diagnosed in 2022) presented to the emergency with altered sensorium, headache, and convulsions. He had received radiotherapy and chemotherapy for the past year. In December 2023, he experienced convulsions again due to a recurrence of the oligodendroglioma. His CBC showed an increasing total leukocyte count, reaching 100,000 over five months. Bone marrow and molecular studies indicated a myeloproliferative neoplasm, specifically chronic myeloid neoplasm (CMN) in the chronic phase, with BCR-ABL1 p210 positive. He was diagnosed with recurrent anaplastic oligodendroglioma (WHO Grade 3) and CMN in the chronic phase. CONCLUSION: An increased prevalence of second primary malignancy is anticipated due to the rising cancer burden and the careful screening of index initial malignancy throughout therapy. Determining the best course of action requires careful staging of the cancer and discussion by a multidisciplinary team.
Successful Treatment of Neutropenia Associated With T-Cell Large Granular Lymphocytic Leukemia Using Fludarabine.
Uemura Y, Togitani K, Kumon Y
Case Rep Hematol · 2026 · PMID 41567177 · Full text
T-cell large granular lymphocytic leukemia (T-LGLL) is an uncommon lymphoproliferative disorder that typically follows a slow clinical course. Symptoms often remain subtle until cytopenia or infection develops. Severe in...
T-cell large granular lymphocytic leukemia (T-LGLL) is an uncommon lymphoproliferative disorder that typically follows a slow clinical course. Symptoms often remain subtle until cytopenia or infection develops. Severe infection secondary to neutropenia represents the major cause of mortality. We describe an uncommon case involving an 81-year-old woman diagnosed with T-LGLL whose agranulocytosis was followed by recurrent infections. Immunosuppressive agents such as methotrexate, cyclophosphamide, and tacrolimus-commonly recommended by current guidelines-were administered but failed to improve neutropenia. Administration of fludarabine, a purine analog listed as a second-line option in the NCCN guidelines, led to a prompt rise in neutrophil counts and a concomitant decline in LGL levels. To our knowledge, no prior Japanese report has documented successful use of fludarabine monotherapy for T-LGLL-related neutropenia, prompting us to describe this case.
A Case Report of Non-Neutralizing Acquired Factor V Inhibitor Mimicking Deficiency: Diagnostic Challenges and Therapeutic Implications.
Kalantri S, Pachika P, Balasubramanian S … +3 more , Alquran B, McCoy M, Sharma V
Case Rep Hematol · 2026 · PMID 41523906 · Full text
Acquired Factor V (FV) deficiency due to inhibitors is a rare coagulopathy that presents significant diagnostic and therapeutic challenges. We report the case of an 81-year-old male with persistent gross hematuria and se...
Acquired Factor V (FV) deficiency due to inhibitors is a rare coagulopathy that presents significant diagnostic and therapeutic challenges. We report the case of an 81-year-old male with persistent gross hematuria and severe coagulopathy, marked by prolonged prothrombin time (PT), activated partial thromboplastin time (aPTT), and critically low FV activity (< 1%). Initial mixing studies corrected the coagulation abnormalities, suggesting a deficiency rather than an inhibitor; however, standard therapies failed. Fresh frozen plasma (FFP) did not elevate FV levels, and recombinant activated Factor VII (rFVIIa) did not resolve his symptoms, raising suspicion for a non-neutralizing inhibitor that depletes FV by increasing clearance. Clinical improvement was achieved with platelet transfusions, and his FV level normalized after treatment with rituximab and intravenous immunoglobulin (IVIG). PT and aPTT improved from 60 and > 200 to 12 and 32, respectively. It has remained normal with subsequent maintenance immunosuppression with rituximab. This case illustrates the diagnostic complexity created by non-neutralizing FV inhibitors, which accelerate factor clearance without directly impairing activity. It highlights the critical need for integrating clinical and laboratory findings to guide tailored treatment in managing rare coagulopathies.
Successful Zanubrutinib Monotherapy in a Rare CNS Presentation of Relapsed CLL.
Kunta V, Ammad-Ud-Din M, Mediavilla-Varela M … +1 more , Pinilla-Ibarz J
Case Rep Hematol · 2026 · PMID 41502491 · Full text
BACKGROUND: Central nervous system (CNS) involvement is an infrequent complication of chronic lymphocytic leukemia (CLL), occurring in less than 1% of cases. We report a case of a 63-year-old male with a history of CLL p...
BACKGROUND: Central nervous system (CNS) involvement is an infrequent complication of chronic lymphocytic leukemia (CLL), occurring in less than 1% of cases. We report a case of a 63-year-old male with a history of CLL previously treated with ibrutinib but discontinued early due to intolerance. As a result, the patient was then treated with obinutuzumab plus venetoclax, achieving undetectable minimal residual disease (MRD) but relapsed after 2 years with CNS involvement. CASE PRESENTATION: The patient initially presented to the emergency department with confusion and altered mental status. Magnetic resonance imaging (MRI) of the brain revealed abnormal subcortical hyperintensities and leptomeningeal enhancement concerning leukemic infiltration. Lumbar puncture confirmed malignant CD5+ CLL cells in the cerebrospinal fluid (CSF), and a bone marrow biopsy revealed 50%-60% CLL involvement. Zanubrutinib 320 mg daily was initiated. The patient exhibited marked cognitive improvement within full resolution after four weeks of therapy. Follow-up MRI after 8 weeks showed full resolution of CNS, lesions with repeat LP demonstrating CSF cleared of CLL cells. He remains in complete remission with continued daily zanubrutinib 6 months follow-up; no significant adverse effects were observed. CONCLUSION: This case highlights the rare occurrence of CNS involvement in CLL and is the first to demonstrate successful CNS disease eradication with zanubrutinib monotherapy.
Clinical Spectrum of Hemolytic Anemia in Loxoscelism: Report of Two Cases Highlighting Variable Severity and Management.
Al-Sadi A, Adhikari A, Jawarneh I … +2 more , Ali E, Shrestha A
Case Rep Hematol · 2026 · PMID 41502490 · Full text
Loxoscelism can cause local as well as systemic manifestations. Hematologic complications of brown recluse spider venom can be life-threatening. Here, we present two cases of loxoscelism-mediated hemolysis that highlight...
Loxoscelism can cause local as well as systemic manifestations. Hematologic complications of brown recluse spider venom can be life-threatening. Here, we present two cases of loxoscelism-mediated hemolysis that highlight the variable clinical presentations and treatment options available based on severity and pathophysiology of hemolysis.
Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal.
Upadhaya P, Shrestha A
Case Rep Hematol · 2025 · PMID 41473418 · Full text
BACKGROUND: Unstable hemoglobin leading to chronic hemolysis is a rare yet an important cause of hemolytic anemia and can be easily missed if not thought of during evaluation. Hemoglobin Sun Prairie is an extremely rare...
BACKGROUND: Unstable hemoglobin leading to chronic hemolysis is a rare yet an important cause of hemolytic anemia and can be easily missed if not thought of during evaluation. Hemoglobin Sun Prairie is an extremely rare α-globin mutation associated with hemolytic anemia. CASE: We report a 22-year-old female from Nepal who presented with easy fatigability and jaundice since her childhood with worsening of symptoms for 2 months. Examination revealed pallor, icterus, and splenomegaly. Investigation showed anemia with low mean cell volume (MCV), reticulocytosis, indirect hyperbilirubinemia, and raised lactate dehydrogenase (LDH) level. Workup for etiology of hemolysis, including autoimmune, nutritional, RBC enzyme deficiency, and osmotic fragility, was negative. Hemoglobin electrophoresis was inconclusive. Whole-exome sequencing identified a pathogenic mutation in HBA2 gene, confirming Hemoglobin Sun Prairie. To our knowledge, this represents the first reported case of Hemoglobin Sun Prairie from Nepal. CONCLUSION: This case highlights the importance of genetic testing in an unexplained hemolytic anemia. Genetic testing such as whole-exome sequencing would help in the early identification of rare causes of hemolytic anemia which can guide in the genetic counseling and prevent unnecessary investigations and interventions.
A Durable Remission Following Pseudo-Progression in Tirabrutinib Treatment for Relapsed Primary Central Nervous System Lymphoma: A Case Study.
Okawara S, Ide S, Morimoto H … +1 more , Tsukada J
Case Rep Hematol · 2025 · PMID 41439214 · Full text
Tirabrutinib (TIR) is a second-generation, Bruton's tyrosine kinase inhibitor (BTKi) recently developed for the treatment of relapsed and refractory primary central nervous system lymphoma (PCNSL). However, little data a...
Tirabrutinib (TIR) is a second-generation, Bruton's tyrosine kinase inhibitor (BTKi) recently developed for the treatment of relapsed and refractory primary central nervous system lymphoma (PCNSL). However, little data are available regarding potential immunomodulatory effects of TIR on PCNSL due to its rarity and aggressive tumor behavior. Here, we report the first case of pseudo-progression (PSP) in a PCNSL patient treated with TIR. A 79-year-old woman had relapsed PCNSL with multiple tumor lesions in the lateral ventricles. A temporary tumor regression was observed following TIR administration. However, 7 months later, brain tumors regrew in the left lateral ventricle and in the choroid plexus of the right lateral ventricle, suggesting TIR-resistant disease progression. Despite the enlarged tumors, the patient remained asymptomatic, and re-remission was achieved by continuation of TIR monotherapy. Moreover, a durable remission for approximately 2 years was obtained without any additional therapy. This case shows that TIR can induce immunomodulatory reaction including PSP even in PCNSL, suggesting the importance of differential diagnosis of true disease progression and immune-mediated PSP based on careful clinical and radiological monitoring to avoid premature discontinuation of effective treatment.
A Rare Manifestation of CNS Leukemia: A Case Report.
Ntekim A, Nayyer A, Rosales S
Case Rep Hematol · 2025 · PMID 41439213 · Full text
Central nervous system (CNS) involvement in acute myeloid leukemia (AML) is uncommon, reported in < 3% of patients, and confers poor prognosis. We present a 71-year-old Korean woman with prior myeloid sarcoma who progres...
Central nervous system (CNS) involvement in acute myeloid leukemia (AML) is uncommon, reported in < 3% of patients, and confers poor prognosis. We present a 71-year-old Korean woman with prior myeloid sarcoma who progressed to AML and later developed isolated CNS leukemia. Her course included pancytopenia, extramedullary skin lesions, hyperleukocytosis, transfusion-dependent anemia, and elevated LDH. Neurologic decline revealed dural lesions on imaging; cerebrospinal fluid flow cytometry confirmed CNS disease despite negative cytology. She responded to intrathecal methotrexate and high-dose cytarabine, underscoring the need for CNS-directed therapy. Myeloid sarcoma precedes AML in 2%-8% of cases, yet CNS relapse remains rare. Diagnostic challenges arise from nonspecific neuroimaging and overlap with infectious or inflammatory etiologies, highlighting the role of flow cytometry and molecular studies. Median survival after CNS relapse is reported at 3-6 months. This case also illustrates how language barriers may delay diagnosis and complicate management, emphasizing the need for accessible care frameworks.
Concurrent Presentation of Pure Red Cell Aplasia and Myeloproliferative Neoplasm, Unclassifiable With JAK2 and MPL Mutations.
Li Q, Tan L, Wang X … +1 more , Fan Q
Case Rep Hematol · 2025 · PMID 41439212 · Full text
Pure red cell aplasia (PRCA) is a rare hematologic disorder characterized by normocytic anemia and severe reticulocytopenia. The co-occurrence of PRCA and myeloproliferative neoplasm (MPN) with JAK2 and MPL mutations is...
Pure red cell aplasia (PRCA) is a rare hematologic disorder characterized by normocytic anemia and severe reticulocytopenia. The co-occurrence of PRCA and myeloproliferative neoplasm (MPN) with JAK2 and MPL mutations is exceptionally rare. This case involves a patient who initially presented with anemia and thrombocytosis. Following a diagnosis of PRCA, the treatment with immunosuppressive therapy effectively increased her hemoglobin levels. Genetic testing revealed the presence of JAK2 V617F and MPL W515L mutations. The bone marrow biopsy results indicated MPN-U, followed by a subsequent biopsy revealing myelofibrosis secondary to MPN-U. Subsequently, ruxolitinib was administered. This case highlights the significance of pathological examination and genetic mutation testing in achieving precise differential diagnoses in MPNs. Additionally, it demonstrates effective management strategies for patients diagnosed with PRCA and MPN with JAK2 and MPL mutations. The use of ruxolitinib and cyclosporin A has been shown to be beneficial for such patients. And the use of ruxolitinib decreases the dosage of cyclosporin A, indicating that ruxolitinib may have a therapeutic effect on PRCA.
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