Case Reports in Hematology最新文献

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.

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.

Background: Central nervous system (CNS) involvement by cutaneous T-cell lymphomas (CTCL) is exceptionally rare and is associated with a poor prognosis. Folliculotropic mycosis fungoides (FMF) is a rare subtype of CTCL and often has more aggressive clinical behavior compared to classic MF. The risk factors for CNS progression in patients with primary CTCL are not well understood.

Case summary: We present the case of a 75-year-old male with a history of Stage IA FMF, who developed progressive neurologic and functional decline over six months. Workup revealed marked eosinophilia, and CSF analysis showed monoclonal T-cell population with positive T-cell receptor (TCR) gene rearrangement. Flow cytometry further showed an atypical CD4+ T-cell population with loss of CD7, consistent with the immunophenotype of patient's cutaneous MF, supporting secondary CNS involvement. An MRI of the brain showed T2 hyperintensity in the pons and right middle cerebellar peduncle, with low signal intensity throughout the bone marrow of the skull, concerning for CNS progression of FMF. The patient was started on high-dose steroids, which led to improvement in eosinophilia. Due to transaminitis, high-dose methotrexate therapy was deferred, and the patient was initiated on intrathecal (IT) chemotherapy with methotrexate and cytarabine. Following five cycles of IT chemotherapy, the patient's neurologic status significantly improved, and CSF analysis showed resolution of the atypical T-cell population.

Conclusion: This case highlights the rare occurrence of CNS progression of FMF, even in the absence of lymphatic involvement and with well-controlled skin manifestations, and underscores the role of IT chemotherapy in managing this complication.

Hodgkin lymphoma (HL) presenting with initial skeletal symptoms as a paraneoplastic phenomenon is extremely rare. Herein, we report the case of a 26-year-old man with nodular sclerosis classical HL (NSCHL) who presented with low back pain as the initial symptom. Imaging studies were unremarkable except for right S1-S2 sacral marrow edema on MRI, and multiple biopsies showed only inflammatory changes, resulting in a tentative diagnosis of chronic recurrent multifocal osteomyelitis. Later in the course of the disease, after performing routine series of MRIs, lymphadenopathy was finally detected. Core biopsies of the axillary and pelvic lymph nodes subsequently confirmed the diagnosis of HL. Complete resolution of bone lesions was observed following lymphoma treatment. This case highlights the diagnostic challenges of HL, particularly when it presents with rare skeletal paraneoplastic manifestations.

Multiple myeloma (MM) is the second most common hematologic malignancy, and patients with relapsed/refractory MM (RRMM) face limited treatment options and a poor prognosis. Recently, CAR-T cell therapy targeting G-protein-coupled receptor, class C group 5 member D (GPRC5D) has shown promising efficacy and safety in preclinical studies, offering new hope for patients with RRMM. We report the successful treatment of a 48-year-old female patient with relapsed/refractory nonsecretory MM. The patient had high-risk factors, including 1q21 amplification and TP53 deletion, and had relapsed after seven lines of therapy, including autologous hematopoietic stem cell transplantation, proteasome inhibitors, immunomodulatory agents, PD-1 inhibitors, and CD38 monoclonal antibodies. She also developed extramedullary disease. Eventually, she received CAR-T cell therapy targeting GPRC5D, which led to the complete disappearance of extramedullary lesions and a sustained complete remission lasting up to 17 months. In conclusion, CAR-T cell therapy targeting GPRC5D is highly effective and well-tolerated in patients with RRMM, especially those with high-risk factors. Further studies with larger cohorts and longer follow-up periods are needed to validate the clinical application of GPRC5D-targeted CAR-T cell therapy in RRMM, particularly for patients who have failed BCMA-targeted therapies.

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.

Patients with multiple myeloma (MM) have an inherent risk for secondary myeloid malignancies. Innovative approaches to treatment are needed when these hematologic malignancies co-occur. Venetoclax (VEN), a BCL2 inhibitor, has been used in combination with Azacitidine in acute myeloid leukemia, in the trial setting in high-risk myelodysplastic syndrome (MDS), and in t(11; 14) MM in the salvage setting. Here, we present a case report of concurrent treatment of high-risk MDS and t(11; 14) MM in a patient, using VEN-based therapy. Following diagnosis with IgG t(11; 14) MM, the patient received treatment with Lenalidomide, Bortezomib, and Dexamethasone and achieved a very good partial response. She subsequently proceeded to autologous stem cell transplant and thereafter continued on Lenalidomide maintenance. Relapsed disease was noted 3 years following transplant, with a concurrent diagnosis of a high-risk MDS (mutations in NRAS and DNMT3A). Given the known efficacy of VEN in her concomitant malignancies, we elected to use a VEN-based regimen, at a lower dose of VEN than has been shown to be efficacious in t(11; 14) MM. Bone marrow biopsy demonstrated response from the perspective of both malignancies, until she had relapsed disease with a mixed phenotype acute leukemia ∼ 19 months after relapsed MM/diagnosis of high-risk MDS. Overall, this case demonstrates successful treatment of both hematologic malignancies at a lower dose of VEN than previously shown to be efficacious in t(11; 14) MM.

Spontaneous, nontraumatic intracerebral hemorrhage (ICH) in young adults with bleeding diathesis, particularly Factor XIII (FXIII) deficiency, is a rare yet life-threatening condition that affects approximately one-third of patients. FXIII deficiency typically presents at birth with prolonged umbilical bleeding and can manifest later with recurrent episodes of prolonged bleeding, epistaxis, and bleeding from minor injuries. Diagnosing FXIII deficiency is challenging due to a normal coagulation profile, requiring a detailed clinical history and specialized diagnostic tests for FXIII levels. We report a case of a young male with recurrent spontaneous ICH, frequent epistaxis, and prolonged bleeding from minor trauma. The patient was managed conservatively with fresh frozen plasma (FFP) transfusions and supportive care. Prophylactic FFP infusions were initiated every 2 months to prevent further bleeding episodes, accompanied by regular follow-up. The patient made a full recovery and is now leading a healthy life without excessive bleeding, demonstrating the importance of early diagnosis and ongoing treatment. This case highlights the need for clinicians to consider FXIII deficiency in patients with unexplained bleeding, particularly when routine coagulation tests are normal, and underscores the value of timely intervention to prevent severe complications like ICH.

Rationale: Idiopathic multicentric Castleman disease (iMCD), also known as angiofollicular lymph node hyperplasia, is a rare inflammatory lymphoproliferative disease with diverse clinical presentations. We report a rare case of iMCD accompanied by severe eosinophilia and diffuse centrilobular pulmonary nodules, which have rarely been previously documented in the literature.

Patients’ concerns: A 69-year-old man presented with intermittent fever, dry cough, and shortness of breath. Laboratory examination revealed severe eosinophilia. Chest computed tomography (CT) revealed bilateral pulmonary interstitial nodules and enlarged lymph nodes in the right axilla and mediastinum.

Diagnosis: Axillary lymph node biopsy revealed partial atrophy of lymphoid follicles with hyaline vessel insertion and partial hyperplasia. The hyperplastic mantle zones were composed of concentric rings of small lymphoid cells. Additionally, numerous plasma cells and eosinophils were observed infiltrating between the follicles. The patient was ultimately diagnosed with iMCD with eosinophilia. Other potential causes of eosinophilia, including infections, malignancies, and other inflammatory conditions, were excluded.

Intervention: The patient declined cytotoxic chemotherapy and was treated with oral methylprednisolone (40 mg/day), which was gradually tapered to 10 mg/day.

Outcomes: The patient's symptoms, including fever, cough, and dyspnea, improved markedly. The eosinophil count returned to normal, and inflammatory cytokine levels (IL-1β, IL-8, IL-6, and TNF-α) decreased significantly.

Lessons: This case highlights a rare presentation of iMCD with eosinophilia and pulmonary involvement, emphasizing the importance of early recognition and timely corticosteroid therapy. Our report adds to the limited data on iMCD with eosinophilia and may help inform future clinical management.

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.