Case Reports In Hematology[JOURNAL]
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200 papers
Coexistence of Essential Thrombocythemia and Waldenström Macroglobulinemia: A Case Report.
Wallace M, Mathey B, Yeung CCS … +2 more , Appelbaum JS, Wallace M
Case Rep Hematol · 2025 · PMID 40919233 · Full text
Waldenström macroglobulinemia (WM) and essential thrombocythemia (ET) are distinct hematologic malignancies that have only been reported to co-occur in one previous patient. We present a 64-year-old man with a significan...
Waldenström macroglobulinemia (WM) and essential thrombocythemia (ET) are distinct hematologic malignancies that have only been reported to co-occur in one previous patient. We present a 64-year-old man with a significant family history for WM who was found to have both ET and WM. He had symptomatic ET, diagnosed by elevated platelets and a positive JAK2 V617F mutation, and asymptomatic WM was found on serum electrophoresis done for screening due to family history. Genomic evaluation of the myeloid and lymphoid cells suggested independent neoplastic transformation. This is the second reported case of a patient with both WM and ET. There was no evidence for a shared mechanism in these dual malignancies.
Epistaxis: A Rare Presentation of Sickle Cell Intrahepatic Cholestasis.
Abdulkarim B, Cushen H, Grace J … +1 more , Levine E
Case Rep Hematol · 2025 · PMID 40901378 · Full text
Sickle cell hepatopathy (SCH) is an umbrella term relating to liver disease in sickle cell disease (SCD). This term ranges from common etiologies such as cholelithiasis to disease-specific causes such as sickle cell intr...
Sickle cell hepatopathy (SCH) is an umbrella term relating to liver disease in sickle cell disease (SCD). This term ranges from common etiologies such as cholelithiasis to disease-specific causes such as sickle cell intrahepatic cholestasis (SCIC), a rare but significant complication of SCD capable of progressing to liver failure and consideration of transplantation. We report the case of a 24-year-old male with SCD who presented with jaundice, encephalopathy, uncontrollable epistaxis, and pseudohematemesis and was found to have hyperbilirubinemia, coagulopathy, portal hypertension, and acute kidney injury (AKI). This presentation was concerning for SCIC. Initial management included transfusions and a trial of apheresis. Liver biopsy revealed sinusoidal red cell sickling, fibrosis, and ductopenia, consistent with findings of SCIC. Due to ongoing complications, recurrent admissions, and symptomatic coagulopathy, the patient underwent liver transplantation which was complicated by perihepatic hematoma and stroke, necessitating extensive rehabilitation. This case emphasizes the importance of early diagnostic workup and prompt, multidisciplinary management of SCIC to mitigate risks of liver failure and need for transplant.
Severe Congenital Factor X Deficiency as a First Case Report in Cambodia.
Soey C, Sovandos M, Pechkethia L … +2 more , Kimsreng L, Sophâl C
Case Rep Hematol · 2025 · PMID 40893577 · Full text
Factor X (FX) deficiency is a rare autosomal recessive inherited bleeding disorder, with an estimated prevalence of approximately 1 in 1,000,000 individuals. According to the most recent data published by the World Feder...
Factor X (FX) deficiency is a rare autosomal recessive inherited bleeding disorder, with an estimated prevalence of approximately 1 in 1,000,000 individuals. According to the most recent data published by the World Federation of Hemophilia, no cases of FX deficiency have been reported in Cambodia to date. A 14-year- and 7-month-old Cambodian boy presented with recurrent gum bleeding. His medical history was notable for multiple hematomas, joint ankylosis, and blue sclera. He was born to second-degree consanguineous parents, with no known family history of bleeding disorders. Laboratory evaluation revealed prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and severely reduced FX activity (< 1%), consistent with a diagnosis of severe congenital FX deficiency. Bleeding was successfully managed with fresh frozen plasma, initially administered at 15 mL/kg, followed by maintenance doses of 5 mL/kg twice daily. FX deficiency, though rare, should be considered in the differential diagnosis of pediatric patients presenting with recurrent gingival or mucocutaneous bleeding in conjunction with prolonged PT and APTT. This consideration is particularly important in resource-limited settings such as Cambodia, especially in children born to consanguineous parents and after more common coagulopathies have been excluded. In low-resource settings, where FX concentrates are often unavailable or unaffordable, fresh frozen plasma remains the primary treatment option.
Subcutaneous Leukemia Cutis as the Initial Manifestation of CD23 Negative CLL/SLL in a Patient With Rheumatoid Arthritis on Chronic TNF-Alpha Inhibition.
Ahmed N, Rashid S, Kutaish N … +1 more , Ahmed MM
Case Rep Hematol · 2025 · PMID 40893576 · Full text
Rheumatoid arthritis (RA) is a chronic, systemic, and autoimmune disease characterized by inflammation and pain in the joints. While RA and TNF-alpha inhibitors have historically been associated with an increased risk of...
Rheumatoid arthritis (RA) is a chronic, systemic, and autoimmune disease characterized by inflammation and pain in the joints. While RA and TNF-alpha inhibitors have historically been associated with an increased risk of lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is infrequently seen. CD23 negative CLL is rare. Extranodal manifestations of CLL/SLL are uncommon. While cutaneous involvement is among the more common extranodal manifestations, leukemia cutis is rare. Furthermore, subcutaneous leukemia cutis as the initial manifestation CLL/SLL is exceedingly uncommon. We describe a patient with longstanding RA on chronic TNF-alpha inhibition who presented with an isolated subcutaneous mass. Excisional biopsy demonstrated sheets of small, uniform, and mature lymphocytes with flow cytometric analysis noting a monoclonal B-cell population negative for CD23 expression but positive for CD5, CD19, CD20, CD38, kappa light chain, and CD200 expression. Further immunostaining was negative for cyclin-D1 and SOX11 and positive for CD43 and LEF1, overall consistent with CLL/SLL-induced subcutaneous leukemia cutis. While treatments for CLL/SLL-induced leukemia cutis vary, in this case, consolidative local radiation led to resolution of the remaining cutaneous lesion. Caution is advised when considering the use of TNF-alpha inhibitors in patients with a history of lymphoma.
"No End Point Detected": A Unique Coagulation Profile Unmasking Dysfibrinogenemia.
Uminski K, Jiang XY
Case Rep Hematol · 2025 · PMID 40757390 · Full text
Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulat...
Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported "no end point detected" on PT, PTT, and Clauss fibrinogen assays. This pattern should prompt consideration of profound hypofibrinogenemia or qualitative fibrinogen defects. Fibrinogen replacement normalized PT and PTT and yielded measurable fibrinogen levels, enabling definitive diagnosis. Discordant activity and antigen levels, along with a pathogenic variant, confirmed dysfibrinogenemia. This case underscores the importance of considering fibrinogen disorders in uninterpretable coagulation profiles and initiating early replacement.
Use and Effects of Eltrombopag in Pregnant Woman With Difficult-to-Treat Idiopathic Thrombocytopenic Purpura (ITP).
de Farias GCF, de Sá GT, Mercadante RV … +3 more , Stefanello B, Francisco RPV, Igai AMK
Case Rep Hematol · 2025 · PMID 40746333 · Full text
A case report of a pregnant patient with idiopathic thrombocytopenic purpura refractory to clinical treatment, who underwent childbirth in the context of a difficult-to-control disease. Data were collected through medic...
A case report of a pregnant patient with idiopathic thrombocytopenic purpura refractory to clinical treatment, who underwent childbirth in the context of a difficult-to-control disease. Data were collected through medical record survey and literature review. The case reported regards a complex clinical condition involving management of maternal-fetal well-being in the context of severe hematological disease, regarding ideal therapy options and best moment for delivery indication, minimizing risk of prematurity and adverse events from underlying pathology.
Histiocytic Sarcoma Arising in a Background of Nodular Lymphocyte Predominant Hodgkin Lymphoma.
Wymer GEY, Ferra S, Naeem M
Case Rep Hematol · 2025 · PMID 40740618 · Full text
Histiocytic sarcoma is a very rare aggressive neoplasm of mature histiocytes which may present as a primary malignancy or transforming from a primary B-cell lymphoma that includes chronic lymphocytic leukemia/small lymph...
Histiocytic sarcoma is a very rare aggressive neoplasm of mature histiocytes which may present as a primary malignancy or transforming from a primary B-cell lymphoma that includes chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, and extra nodal marginal zone lymphoma. A 69-year-old female presented with lymphadenopathy, and CT scan of chest, abdomen, and pelvis revealed extensive lymphadenopathy. Left axillary lymph node excision was performed. Histologic sections showed enlarged lymph nodes with architectural effacement by nodular and diffuse infiltrate comprising a mixture of small lymphocytes, histiocytes, occasional plasma cells, and scattered large atypical lymphocytes with irregular nuclear contours, vesicular chromatin, and prominent nucleoli. In addition, there were a few nodules of atypical histolytic cells including epithelioid and spindled forms and scattered large multinucleate forms. Immunohistochemical (IHC) stains showed that the large atypical B-cells were positive with variable intensity for CD20, PAX5, BCL6, BOB1 (weak), OCT2, MUM1, PU.1, CD45 (subset), CD19 (weak), CD79A (weak), and CD30 (subset, weak). They were negative for CD3, BCL2, CD15, ALK, CD10, IgD, HHV8, CAM5.2, EBER, GMS, AFB, SOX10, MART1, and HMB45. T-lymphocytes positive for CD3 showed rosette formation around scattered negative atypical large B-cells. CD21 and CD23 highlighted mild expansion of the follicular dendritic cell meshwork in a few areas of nodular infiltration by atypical cells. The nodules of atypical histiocytes were positive for CD68, CD163, BCL6, PU.1 (partial), cyclinD1, and S100 (partial) while negative for CD20, CD3, ALK, CD1A, HHV8, langerin, CAM5.2, HMB45, and MART1. The case was diagnosed as "Histiocytic sarcoma arising in a background of nodular lymphocyte predominant Hodgkin lymphoma." Histiocytic sarcoma is a rare hematopoietic neoplasm, with limited cases of secondary histiocytic sarcoma transforming from a B-cell lymphoma reported in the English literature. Some of these case reports show the same clonal origin of histiocytic sarcoma and B-cell lymphoma. The diagnosis of the transformation is made based on the morphological, immunophenotypic, and genotypic features.
A Hyperacute Presentation of Small Cell, Non-Nodal Mantle Cell Lymphoma.
Chiu J, Crowther M
Case Rep Hematol · 2025 · PMID 40718130 · Full text
Mantle cell lymphoma (MCL) is an aggressive mature B-cell non-Hodgkin lymphoma. Patients often present with lymphadenopathy, early satiety, and B-symptoms. Presentation with hyperleukocytosis is rare. The small cell, non...
Mantle cell lymphoma (MCL) is an aggressive mature B-cell non-Hodgkin lymphoma. Patients often present with lymphadenopathy, early satiety, and B-symptoms. Presentation with hyperleukocytosis is rare. The small cell, non-nodal variant of MCL tends to be less aggressive, have lower mitotic rates, and mimics morphology of chronic lymphocytic leukemia (CLL). We present a 79-year-old woman admitted to hospital with generalized weakness, gait instability, and dyspnea; she was found to have a white count of 550 × 10/L, hemoglobin of 30 g/L, and platelets of 49 × 10/L. She had biochemical evidence of poor tissue perfusion. Peripheral blood smear demonstrated lymphocytosis with smudge cells. After aggressive red blood cell transfusion, she was managed as leukostasis with concurrent tumour lysis syndrome (TLS). She was administered intravenous fluids, rasburicase, allopurinol, and escalating doses of prednisone for lymphoreduction. Her mentation and biochemical evidence of shock improved. Although we initially had high suspicion for CLL, her flow cytometry raised concerns for MCL. Cytogenetics confirmed (11; 14) rearrangement. This case is the first to discuss a severe, aggressive presentation of a small variant, leukemic non-nodal MCL. We also review the role of steroids in leukostasis and concurrent warm autoimmune hemolytic anemia, in a centre where leukapheresis is unavailable.
Pregnancy in May-Hegglin Anomaly: Diagnostic Challenges and Management Considerations.
Mastanzade M, Koç A
Case Rep Hematol · 2025 · PMID 40689043 · Full text
May-Hegglin anomaly (MHA) is a rare autosomal dominant genetic disorder caused by mutations in the MYH9 gene, leading to the presence of Döhle-like inclusions in neutrophils, macrothrombocytes, and thrombocytopenia. This...
May-Hegglin anomaly (MHA) is a rare autosomal dominant genetic disorder caused by mutations in the MYH9 gene, leading to the presence of Döhle-like inclusions in neutrophils, macrothrombocytes, and thrombocytopenia. This report presents a unique case of a 33-year-old pregnant woman diagnosed with MHA and discusses the diagnostic challenges and management strategies. A 33-year-old pregnant woman, 17 weeks into her pregnancy, presented with a history of persistent thrombocytopenia. She had previously been diagnosed with immune thrombocytopenia (ITP) and treated with steroids, intravenous immunoglobulin (IVIG), and thrombopoietin receptor agonists (TPO-RA). Her platelet counts had been between 35,000 and 50,000/μL. Upon referral to the hematology clinic, her platelet count was critically low at 15,000/μL, but the mean platelet volume (MPV) remained within normal limits. Despite her low platelet count, her coagulation profile was normal, and physical examination showed no pathological findings. The patient's blood smear revealed giant platelets and Döhle-like inclusions in the granulocytes. Genetic testing confirmed a heterozygous mutation in the MYH9 gene, leading to the diagnosis of MHA. Due to the risks associated with thrombocytopenia in pregnancy, her prenatal care included routine platelet monitoring and a normal bleeding time assessment. The patient underwent a cesarean delivery under general anesthesia, which resulted in the birth of a healthy baby boy. The case highlights the importance of accurate diagnosis and careful monitoring in managing pregnancy in patients with MHA. A multidisciplinary approach involving obstetricians and hematologists is crucial for optimizing maternal and neonatal outcomes.
Diagnostic Odyssey: Primary CNS Lymphoma (Lymphoma Cerebri) Presenting as Rapidly Progressive Dementia.
Lei Y, Asharf A, Amos J … +6 more , Khawandanah M, Annan A, Battiste J, Torbey M, Al-Juhaishi T, Anadani N
Case Rep Hematol · 2025 · PMID 40677619 · Full text
Primary central nervous system lymphoma (PCNSL) is a rare brain cancer that sometimes presented as rapidly progressive dementia. Diagnosing PCNSL presenting with rapidly progressive neurocognitive symptoms can be challen...
Primary central nervous system lymphoma (PCNSL) is a rare brain cancer that sometimes presented as rapidly progressive dementia. Diagnosing PCNSL presenting with rapidly progressive neurocognitive symptoms can be challenging, especially when the patient was previously treated with immunosuppressants for suspected autoimmune processes. We present a case where PCNLS was eventually and successfully treated 18 months after neurological symptoms started.
Successful Hemostasis With Platelet Transfusion and Tranexamic Acid, and Inhibitor Elimination With Cyclosporine, in Steroid-Resistant Acquired Coagulation Factor V Deficiency Caused by Antibiotic Readministration.
Togitani K, Yamamoto M, Tanaka S … +2 more , Aono R, Uemura Y
Case Rep Hematol · 2025 · PMID 40667519 · Full text
Acquired factor V deficiency (AFVD) is a rare coagulation abnormality associated with infectious diseases, antibiotics, surgery, autoimmune diseases, and malignancy, which causality is difficult to prove. Here, we report...
Acquired factor V deficiency (AFVD) is a rare coagulation abnormality associated with infectious diseases, antibiotics, surgery, autoimmune diseases, and malignancy, which causality is difficult to prove. Here, we report a case of a 90-year-old woman who developed melena following antibiotic treatment for pneumonia. She had been on cefepime for bacterial pneumonia for 2 months to 2 weeks prior to her arrival in the emergency room. Upon presentation, she had severe anemia (Hb: 6.7 g/dL) and prolonged PT (74.3 s) and activated partial thromboplastin time (APTT) (161.9 s). Coagulation studies revealed incomplete correction of the APTT in a 1:1 mixing study with normal pooled plasma, factor V activity of 0%, and a factor V inhibitor titer of 13 Bethesda units, confirming the diagnosis of AFVD. Since the antibiotics were not recognized as the cause, the coagulation abnormality worsened after their readministration. The melena subsequently improved with platelet transfusion and administration of tranexamic acid, while prednisolone-resistant coagulation abnormalities improved with cyclosporine A (CsA) treatment. This case shows the importance of avoiding suspected drugs and the effectiveness of CsA as a second-line treatment of AFVD.
Unveiling Rare Hemoglobinopathies: Hematologic Characterization of Double Heterozygous Hb D and Hb E With Beta-Thalassemia-A Case Report.
Minhas AM, Eiman H, Iqbal J … +2 more , Imran A, Chughtai AS
Case Rep Hematol · 2025 · PMID 40661155 · Full text
Hemoglobinopathies are genetic disorders of hemoglobin, with over 700 variants. Common types include beta-thalassemia, Hb S, Hb E, Hb D, and Hb C, and their prevalence is increasing, especially in developing regions of s...
Hemoglobinopathies are genetic disorders of hemoglobin, with over 700 variants. Common types include beta-thalassemia, Hb S, Hb E, Hb D, and Hb C, and their prevalence is increasing, especially in developing regions of sub-Saharan Africa and Asia. Pakistan, located in the "thalassemia belt," has a high rate of these disorders, with beta-thalassemia being the most common. Genetic combinations, including compound heterozygosity, can lead to unpredictable and severe clinical outcomes. Understanding such rare presentations can aid in more accurate diagnosis, better management strategies, and a deeper insight into the genetic diversity of hemoglobinopathies. It also emphasizes the importance of genetic screening in populations with high hemoglobinopathy prevalence, such as Pakistan, to improve patient outcomes. A one-year-old girl from consanguineous parents in Multan presented with fatigue, feeding difficulties, and severe growth retardation. She had a history of severe anemia requiring a transfusion at 6 months. Examination revealed pallor and mild hepatosplenomegaly. Hemoglobin analysis showed severe anemia (Hb 5.3 g/dL) and a dimorphic blood picture, with electrophoresis indicating compound heterozygosity for Hb D and Hb E, predominated by Hb D. Her father was a compound heterozygote for Hb E and beta-thalassemia. However, the mother was heterozygous for Hb D. Genetic profiling was not completed due to resource limitations, but the family was counseled on consanguinity risks. Given the rising prevalence of uncommon severe hemoglobinopathies in Pakistan and existing resource limitations, targeted screening in high-risk districts and enhanced patient counseling are essential to mitigate the disease burden and improve diagnostic and management strategies.
Life-Threatening Bleeding From Acquired FXI Inhibitors in a Patient With Colorectal Adenocarcinoma.
Dragičević Jojkić M, El Farra A, Rajić N … +2 more , Urošević I, Savić A
Case Rep Hematol · 2025 · PMID 40655905 · Full text
Acquired inhibitors of coagulation factor XI (FXI) are a rare cause of bleeding disorders, typically associated with autoimmune diseases or malignancies. Although uncommon, these inhibitors can lead to severe bleeding, w...
Acquired inhibitors of coagulation factor XI (FXI) are a rare cause of bleeding disorders, typically associated with autoimmune diseases or malignancies. Although uncommon, these inhibitors can lead to severe bleeding, which can be difficult to manage. A limited number of cases have been reported where acquired FXI inhibitors are associated with malignancy. This case report presented a rare occurrence of acquired coagulation FXI inhibitors in a 60-year-old male with sigmoid colon adenocarcinoma. The patient experienced severe postpolypectomy gastrointestinal bleeding and was diagnosed with FXI inhibitors after laboratory tests revealed prolonged activated partial thromboplastin time (aPTT) and reduced activities of factors IX, XI, and XII. The patient underwent surgery, and life-threatening hemorrhagic shock developed. He was reoperated, and treatment with recombinant factor VIIa (rFVIIa), tranexamic acid, and oral corticosteroids was initiated. The therapy successfully controlled the bleeding and resolved the inhibitor. This case highlights the risk of severe bleeding in patients with acquired FXI inhibitors and emphasizes the importance of early diagnosis and personalized treatment. Regular monitoring is essential due to the risk of relapse, particularly in cases associated with malignancy.
Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants.
Nakao S, Nakaseko C, Ohwada C … +5 more , Kirito K, Shibamiya A, Tanaka A, Watanabe R, Shimizu N
Case Rep Hematol · 2025 · PMID 40655904 · Full text
Vitamin B6 (VB6) is a vital coenzyme for δ-aminolevulinic acid synthase (ALAS) in heme biosynthesis. We report a 49-year-old male with severe microcytic anemia and ringed sideroblasts initially diagnosed as myelodysplast...
Vitamin B6 (VB6) is a vital coenzyme for δ-aminolevulinic acid synthase (ALAS) in heme biosynthesis. We report a 49-year-old male with severe microcytic anemia and ringed sideroblasts initially diagnosed as myelodysplastic syndrome (MDS). VB6 deficiency, attributed to long-term amoxapine use, was identified. His anemia improved significantly with VB6 supplementation and resolved completely after discontinuing amoxapine. This case highlights the need to consider VB6 deficiency in anemia with ringed sideroblasts.
Isolated Central Nervous System Presentation of Early T-Cell Precursor Acute Lymphoblastic Leukemia/Lymphoma: A Rare Case of Exclusive Brain Involvement.
Swart VO, Zoghi B
Case Rep Hematol · 2025 · PMID 40642764 · Full text
Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) is a high-risk and biologically distinct subset of T-cell acute lymphoblastic leukemia, typically characterized by leukemic involvement of bone m...
Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) is a high-risk and biologically distinct subset of T-cell acute lymphoblastic leukemia, typically characterized by leukemic involvement of bone marrow, peripheral blood, and mediastinal structures. Central nervous system (CNS) involvement is typically a secondary manifestation [1, 2, 3]. We report a rare case of isolated CNS presentation of ETP-ALL/LBL in a 73-year-old woman who presented with progressive neurological symptoms. Imaging revealed a large right frontal extra-axial mass. Systemic evaluation, including peripheral blood flow cytometry and CT imaging of chest, abdomen, and pelvis, showed no evidence ofsystemic disease. Surgical resection and subsequent histopathology confirmed the diagnosis of ETP-ALL/LBL. A bone marrow biopsy was deffered to the patient's preference and rapid clinical deterioration. This case underscores the diagnostic and therapeutic challenges of CNS-restricted leukemic presentations and highlights the need for early recognition and CNS-directed diagnostic evaluation.
Three Challenges in an Infant: Neuroblastoma Mimicking Infantile Hepatic Hemangioma, With Chylothorax and Rosettes in Pleural Fluid.
Alavi S, Khalili M, Aghdam MK … +2 more , Zamani A, Madani T
Case Rep Hematol · 2025 · PMID 40642763 · Full text
Infantile hepatic hemangioma (IHH) is rare, but the most common benign hepatic tumor in the first year of life. It has a characteristic course with perinatal presentation, increasing growth during the first year of life,...
Infantile hepatic hemangioma (IHH) is rare, but the most common benign hepatic tumor in the first year of life. It has a characteristic course with perinatal presentation, increasing growth during the first year of life, and subsequent shrinkage of the vascular lesions. The authors report a 12-month-old male infant who presented with severe abdominal distension and respiratory distress while under workup for diffuse IHH since 2 months of age. In addition, the child's situation was complicated by two uncommon occurrences: bilateral chylothorax and the presence of neuroblasts and rosette cells in the pleural fluid. The detection of such cells in pleural fluid is extremely rare in pediatric neuroblastoma cases. This complex medical scenario highlights the challenges faced in diagnosing and managing rare pediatric conditions, emphasizing the need for careful monitoring and comprehensive diagnostic approaches in similar cases.
Cytokine Release Syndrome Induced by Pembrolizumab for Metastatic Anal Melanoma.
Martel E, Li S, Hoteit M … +1 more , Bham Z
Case Rep Hematol · 2025 · PMID 40630742 · Full text
Cytokine release syndrome (CRS) is a rare systemic inflammatory response that can be triggered by certain drugs and infections, commonly diagnosed at a disseminated stage, leading to poor prognosis. This has been well de...
Cytokine release syndrome (CRS) is a rare systemic inflammatory response that can be triggered by certain drugs and infections, commonly diagnosed at a disseminated stage, leading to poor prognosis. This has been well described following chimeric antigen receptor T-cell (CAR-T) therapy but has rarely been reported following antiprogrammed death ligand-1 (PDL-1) therapy. We present the case of an 86-year-old male with metastatic anal melanoma who developed CRS after his 4th cycle of pembrolizumab. His initial presentation was thought to be related to sepsis given his high fevers and hypotension; however, given the lack of improvement despite an extensive workup and broad coverage with antibiotics, CRS was suspected as a potential etiology of his symptoms. Tocilizumab and steroids were successfully used and resulted in the resolution of symptoms without relapse. This case highlights the diagnostic and therapeutic challenges posed by immunotherapy-induced CRS and emphasizes the importance of early recognition to achieve good outcomes.
Severe Thrombocytopenia Secondary to Babesiosis: A Case Report.
Cirra VR, Kommu S, Husak M … +1 more , Osterbauer C
Case Rep Hematol · 2025 · PMID 40630741 · Full text
A 76-year-old man with a history of atrial fibrillation treated with warfarin, renal calculi with a history of lithotripsy, hypertension, anxiety, and diabetes mellitus with recent tick exposure presented with abdominal...
A 76-year-old man with a history of atrial fibrillation treated with warfarin, renal calculi with a history of lithotripsy, hypertension, anxiety, and diabetes mellitus with recent tick exposure presented with abdominal pain, fatigue, nausea, and fever with chills. Workup revealed thrombocytopenia and hemolysis. Due to the likelihood of immune thrombocytopenia (ITP) secondary to a viral etiology, the patient was initially started on steroids. The patient subsequently tested positive for babesiosis on peripheral smear and polymerase chain reaction. A peripheral smear showed giant platelets and was positive for immunoglobulin M platelet antibodies. Other etiologies of thrombocytopenia were excluded. The patient was diagnosed with ITP secondary to babesiosis. Antibiotics were initiated to treat babesiosis. The platelet count was nonresponsive to steroids and gradually improved following intravenous immunoglobulin administration and continued antibiotic treatment. This rare case highlights the importance of considering ITP secondary to babesiosis as the etiology of severe thrombocytopenia in babesiosis, as appropriate recognition and early treatment of babesiosis and ITP can prevent serious complications.
Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions.
Ukkahad T, Thamgrang T
Case Rep Hematol · 2025 · PMID 40621131 · Full text
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrange...
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrangements of the gene, particularly the rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the fusion gene are rarely documented. In this case report, we present a 32-year-old previously healthy Thai male who presented to the hospital with constitutional symptoms and marked splenomegaly. His complete blood count revealed mild anemia, marked leukocytosis with hypereosinophilia, and mild thrombocytopenia. A bone marrow study showed hypercellular marrow with granulocytic hyperplasia extensively involved with eosinophils, without morphological evidence of blasts. Conventional cytogenetics identified a t (5; 17) (q33; p13). Further targeted RNA analysis using next-generation sequencing (NGS) detected a fusion gene involving . The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and rearrangement in the chronic-phase disease and was initiated on oral imatinib at a daily dose of 100 mg. One month after initiating the treatment, the patient achieved a hematological response consistent with complete response (CR) criteria. Imatinib therapy has been well-tolerated without reported adverse events, and a 1-year molecular assessment confirmed the achievement of complete molecular response (CMR).
Liver Transplantation for Isolated Langerhans Cell Histiocytosis in an Adult.
Huang R
Case Rep Hematol · 2025 · PMID 40606814 · Full text
Langerhans cell histiocytosis (LCH) is a rare disease of proliferation of histiocytic disorder composed of histologically bland Langerhans cells mixed with reactive mononuclear and granulocytic cells, and often accompani...
Langerhans cell histiocytosis (LCH) is a rare disease of proliferation of histiocytic disorder composed of histologically bland Langerhans cells mixed with reactive mononuclear and granulocytic cells, and often accompanied by eosinophils. These cells are characterized by expression of CD1a, S-100 and Langerin proteins. The clinical presentation ranges from indolent to aggressive, depending on the anatomic site involved which can be unifocal, multifocal, unisystemic, or multifocal and multisystemic disease. Cases involving LCH disease and treatment involving the liver are rare, especially in adult patients. Herein, we discuss a case of a 56-year-old male patient who presented with jaundice, acute abdominal pain, and a history of elevated liver function tests assumed to be caused by fatty liver disease. However, a computed tomography (CT) scan revealed a cholangiocarcinoma with associated biliary dilatation and cirrhosis. Pathological examination revealed Langerhans cell involvement. Negative bone marrow biopsy and bone scan indicated that the patient was indeed suffering from unisystemic LCH with isolated liver involvement causing cirrhosis. Patient underwent orthotopic liver transplantation (LT) and has since shown stable liver function without external therapy for 3 years.
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