Case Reports in Hematology最新文献

Secondary acute myeloid leukemia (sAML) typically arises from a prior myeloid malignancy or as a complication of cytotoxic therapy for other cancers. Rarely, it may develop without antecedent treatment, particularly in lymphoid malignancies. We report an unusual case of sAML in a treatment-naïve patient previously diagnosed with primary testicular diffuse large B-cell lymphoma (DLBCL). A 58-year-old male initially presented with Stage 1E primary testicular DLBCL and declined recommended treatment. Five years later, he developed symptoms and laboratory features of acute myeloid leukemia (AML), confirmed as monocytic subtype (M5) via immunophenotyping. Despite planned hypomethylating agent-based therapy, he succumbed during bridging treatment. This case highlights the diagnostic importance of immunophenotyping and an uncommon clinical trajectory from untreated lymphoid malignancy to sAML.

Central nervous system involvement in multiple myeloma (MM-CNS) is a condition with poor prognosis and no clear treatment options. Standard regimens, including proteasome inhibitors (PIs) and immunomodulatory (IMiD) agents, provide minimal benefit in this setting, highlighting the need for novel therapies. Teclistamab, a bispecific T-cell engager (BiTE) targeting B-cell maturation agent (BCMA) and CD3, has demonstrated robust systemic activity in heavily pretreated MM but its role in CNS disease remains undefined, as patients with CNS involvement have been excluded from pivotal trials. We present the case of a 62-year-old female with high-risk MM who developed extensive leptomeningeal myelomatosis following multiple lines of therapy including autologous transplantation, PI- and IMiD-based regimens, and palliative radiotherapy. Upon presentation with confusion, aphasia, and ataxia, MRI revealed diffuse leptomeningeal enhancement. The patient elected to proceed with teclistamab therapy. Following two cycles, she achieved a very good partial serologic response and MRI demonstrated marked radiologic improvement with resolution of cerebellar nodularity and sulcal enhancement. However, functional recovery was not observed, and the treatment was discontinued after three cycles due to clinical decline and infectious complications. She subsequently transitioned to supportive care and passed away 1 month later. This case report documents one of the first reports of teclistamab demonstrating radiologic improvement in leptomeningeal disease in MM-CNS. While the patient's overall outcome was poor, the observed CNS response supports the biologic plausibility of BiTE penetration and activity in the CNS. These findings suggest the urgent need for prospective studies of BCMA-directed bispecific antibodies in MM-CNS, as well as earlier intervention prior to functional decline.

Case: We present the case of a 60-year-old male patient with a common B-cell acute lymphoblastic leukemia (ALL) who carried the rare t(8; 22)(p11; q11) BCR::FGFR1 chromosomal translocation.

Background/objectives: The presence of the t(8; 22)(p11; q11) BCR::FGFR1 translocation, identified by cytogenetics including Fluorescence In Situ Hybridization (FISH) is known for its association with aggressive disease. Given the dismal prognosis, an early search for a stem cell donor was initiated.

Methods: The patient was treated according to the German Multicenter ALL (GMALL) Study Group consensus recommendations. The disease was refractory to the first cycle of induction chemotherapy. However, after the second induction, cytological remission was achieved. Nevertheless, minimal residual disease (MRD) positivity persisted (IGH rearrangement detected by PCR) after the first consolidation therapy, giving indication for a stem cell transplantation (SCT).

Results: Thirty days post-transplant, no MRD was detected, and complete chimerism was measured for the months following transplantation. However, the patient died in the context of severe graft-versus-host disease and infectious complications 6 months after the SCT.

Conclusions: This case highlights the importance of detailed molecular analysis in the initial diagnostics of ALL. Identification of specific chromosomal translocations can provide critical insights for risk assessment and aid decision-making in intensify therapeutic approaches.

Trial registration: ClinicalTrials.gov identifier: NCT03011372, NCT04659616.

We report a pediatric patient with xeroderma pigmentosum (XP) who developed hemophagocytic lymphohistiocytosis (HLH) secondary to Brucella infection-an exceedingly rare occurrence. XP is a rare autosomal recessive genetic disorder characterized by extreme ultraviolet radiation (UVR) sensitivity due to the inability to repair DNA pyrimidine dimers caused by UV exposure. This defect leads to a markedly increased risk of skin cancer and progressive neurological degeneration (Leung, 2022). HLH is a rare, potentially fatal hypersensitivity syndrome characterized by excessive activation and impaired downregulation of T-lymphocytes and macrophages. This dysregulation results in an overproduction of proinflammatory cytokines, destruction of blood cells, and subsequent tissue and organ damage (Fisman, 2000). While secondary HLH may follow various infections, Brucella-induced HLH is rare (Wolska, 2006), and to our knowledge, this is the first reported case in a patient with XP.

Immune thrombocytopenia purpura (ITP) is initially treated with steroids, but TPO-RAs such as eltrombopag are used for chronic cases. Though effective, eltrombopag has been linked to thromboembolic events, with cerebral venous thrombosis (CVT) being a rare complication. A 20-year-old woman with ITP developed severe headaches, nausea, and vomiting five days after starting eltrombopag. CT scans revealed a dense clot in the right transverse sinus, indicating CVT. Lab data showed elevated platelet counts and D-dimer levels. MRV confirmed CVT, leading to the discontinuation of eltrombopag and initiation of anticoagulant therapy. Recurring thrombocytopenia necessitated further treatment adjustments, including rituximab and cyclosporine, resulting in improved platelet counts and CVT resolution. This case highlighted that CVT is a serious but rare side effect of eltrombopag in ITP patients. Early detection, prompt anticoagulation, and cautious TPO-RA management are crucial for preventing thromboembolic events.

Hydroxyurea is a cornerstone therapy for myeloproliferative disorders such as early-stage myelofibrosis. However, rare hypersensitivity reactions can complicate its use and require careful management. This case describes a patient with early-stage myelofibrosis, with JAK2 V617F mutation, and Grade 1 reticulin fibrosis on bone marrow biopsy. He was started on hydroxyurea 500 mg daily. The patient developed delayed hypersensitivity characterized by fever, chills, and fatigue. Symptoms initially resolved with self-discontinuation, but rechallenge twice with alternate-day dosing led to rapid recurrence following each dose. Discontinuation of hydroxyurea resolved symptoms permanently, and the patient was transitioned to ruxolitinib for management of the underlying disease. This case highlights the importance of recognizing hypersensitivity reactions during hydroxyurea therapy and implementing alternative strategies to optimize patient outcomes.

Gray platelet syndrome (GPS) is a rare inherited platelet disorder characterized by the presence of gray platelets on blood smears, resulting from a deficiency of α-granules. The thrombocytopenia presents in a spectrum of bleeding tendencies, varying among different patients. We present a case of a 14-year-old male presenting with recurrent epistaxis, thrombocytopenia, hepatosplenomegaly, and recurrent infections that had not been diagnosed previously. Whole-exome gene sequencing revealed a homozygous likely pathogenic splice-site variant in the NBEAL2 gene, confirming the diagnosis of GPS, which is inherited in an autosomal recessive manner due to biallelic variants in NBEAL2. The patient had atypical hepatomegaly and low lymphocyte and monocyte counts, findings consistent with emerging evidence that GPS affects multiple hematopoietic lineages. It also contributes to immune dysregulation and results in increased susceptibility to autoimmune disorders, highlighting the need for guidelines to screen for autoimmune complications in GPS patients.

Background: Chronic RBC exchange (RCE) is an established therapeutic strategy used to prevent the development of serious complications in patients with sickle cell disease and beta thalassemia. A subset of these patients have an accelerated decline of transfused red cells, leading to suboptimal exchange transfusions since the preprocedure hematocrit (HCT) is too low to allow for isovolemic hemodilution. These patients often have concomitant splenomegaly.

Methods: In our institution, we had 3 patients who had rapid decline in HCT post-RCE and who underwent a splenectomy. We compared the pre- and postsplenectomy hemoglobin S and HCT values for two patients with sickle cell anemia and one with beta thalassemia, undergoing chronic RCE.

Results: We observed a significant increase in the preprocedure HCT, from a mean ± SD of 21.11 (±2.5) presplenectomy to 25.02 (±1.8) postsplenectomy (p < 0.0001). This was accompanied by a significant increase in the interval number of days between procedures, from 29.6 (±5.6) days to 34.8 (±7.2) days following splenectomy (p=0.0046). Comparing pre- and postsplenectomy HCT values to the threshold HCT value required for isovolemic hemodilution (HCT = 23%) revealed that splenectomy resulted in a highly significant increase (p < 0.0001) above the threshold.

Discussion: Our observations here suggest that in a subset of patients, splenomegaly may result in accelerated decline of transfused red cells which improves following splenectomy, resulting in improved clinical parameters and more efficient RCE.

This case illustrates the importance of medical and dental healthcare awareness of how amyloidosis may affect the oral mucosa. Careful, thorough examinations, and anamnesis in a stepwise manner, with communication between professions, are necessary to ensure an early diagnosis and avoid unnecessary suffering. In this case, the patient's medical history should have been taken into consideration when examining the oral cavity, as it might have been an indicator for the healthcare providers as to which tests were needed.

Factor V Leiden (FVL) and the prothrombin 20210A gene mutation are two common genetic predispositions to hypercoagulability. We present a complex case of recurrent venous thromboembolism (VTE) in a 50-year-old woman with double heterozygosity for FVL and prothrombin G20210A, complicated by heparin-induced thrombocytopenia (HIT) and May-Thurner syndrome. Following a recent orthopedic surgery and a sedentary postoperative course, the patient developed extensive bilateral deep vein thrombosis (DVT) and a saddle pulmonary embolism. Initial anticoagulation with heparin was complicated by progressive thrombocytopenia and confirmed HIT, prompting transition to bivalirudin and subsequently argatroban. Despite therapeutic anticoagulation and multiple interventional procedures, the patient experienced repeated thrombotic events. After increasing the therapeutic aPTT goal for argatroban, she ultimately stabilized and was successfully transitioned to oral apixaban. This case highlights the synergistic risk posed by the combination of inherited thrombophilia, structural venous abnormalities, and acquired prothrombotic conditions. It provides insight into the complex nature of proper anticoagulation strategies in these individual cases. Our use of argatroban with higher aPTT goals may provide guidance in future cases of refractory VTE. Further studies are needed to better understand the optimal therapies and management for patients with hereditary and acquired thrombophilia.