Case Reports in Hematology最新文献

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.

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 × 10⁹/L to 72 × 10⁹/L within 9 days. The platelet count peaked at 848 × 10⁹/L, necessitating dose adjustments, after which it stabilized within the target range (100-300 × 10⁹/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.

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 Escherichia coli 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.

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.

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.

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.

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.

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.

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.

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.