Case Reports in Hematology最新文献

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.

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.

Non-Hodgkin lymphoma englobes a diverse group of malignant disorders. Although most commonly manifested as lymphadenopathies or solid tumors, some lymphomas can exhibit highly aggressive behavior, such as diffuse large B-cell lymphoma (DLBCL). This report highlights the case of a 72-year-old male from a resource-limited setting who delayed seeking medical care for two years, relying on alternative medicine for a destructive sternal mass. In low- and middle-income countries (LMICs), healthcare-seeking decisions are influenced by factors such as poor dimension of symptoms, cultural beliefs, limited access to health care, and reliance on traditional, conventional, and alternative treatment. This case highlights challenges in LMICs in cancer care and the urgent need to address these barriers. This case proposes that efforts should focus on reducing patient intervals and improving cancer outcomes in LMICs.

Solitary extramedullary plasmacytoma (SEP) is a rare plasma cell neoplasm that typically arises in the upper aerodigestive tract but may occur in other organs, including the liver. IgM-secreting SEPs are exceedingly rare and can be challenging to differentiate from other lymphomas with similar presentations. We report a case of a 73-year-old female who presented with fatigue and cytopenias, later found to have a large hepatic mass. Biopsy revealed a kappa-restricted plasma cell neoplasm with strong CD138, BCL2, CD20, and PAX5 expression and absence of MYD88 L265P mutation via immunohistochemistry. No bone marrow involvement or lymphadenopathy was detected. Although MYD88 was negative, the working diagnosis was initially made as isolated Waldenstrom macroglobulinemia (WM), and the patient was treated as such. Local radiotherapy was contraindicated due to elevated risk with a history of cirrhosis. The patient demonstrated excellent clinical and radiographic response to zanubrutinib therapy by way of improvement in IgM and the size of the liver mass. After reconsideration of the diagnosis, especially in the setting of MYD88 negativity and CD138 positivity, the case seemed to represent an IgM-secreting solitary hepatic plasmacytoma rather than WM. Management did not change when the diagnosis of plasmacytoma was more highly represented due to the radiotherapeutic contraindication and excellent improvement with zanubrutinib. To our knowledge, this represents one of the few documented cases of IgM-secreting solitary hepatic plasmacytoma. This case highlights diagnostic challenges, the importance of immunophenotypic profiling, and the need for individualized management strategies in this rare entity.

Blinatumomab is a promising monoclonal antibody therapeutic for the treatment of relapsed or refractory B-cell precursor acute lymphoblastic leukemia (B-ALL). However, it has been associated with lineage switch in acute leukemia, particularly in cases of KMT2A-rearranged B-ALL, which carries a poor prognosis. While most lineage switch events present as acute myeloid leukemia (AML), rare cases may manifest as myeloid sarcoma. In the current report, we describe the development of myeloid sarcoma following blinatumomab treatment in a patient with refractory KMT2A-rearranged B-ALL. The patient, a 19-year-old African American male with primary Philadelphia chromosome-negative B-ALL, was initially treated with a pediatric-inspired chemotherapy regimen. He achieved pathologically morphologic remission after induction, but his minimal residual disease (MRD) testing remained persistently positive, eventually progressing to bone marrow relapse. The patient was then started on blinatumomab therapy, achieving a second morphological remission; however, his MRD remained detectable. During the fourth cycle of blinatumomab, the patient developed back pain and lower extremity weakness. Imaging revealed an extradural mass in the thoracic spine, resulting in spinal cord compression. Histopathologic evaluation of the mass confirmed a diagnosis of mixed-phenotype myeloid sarcoma harboring the same KMT2A rearrangement. Concurrent bone marrow biopsy revealed mixed-phenotype acute leukemia. The patient was subsequently lost to follow-up. This is the fourth reported case of myeloid sarcoma following blinatumomab therapy of persistent B-ALL. It highlights an unusual and serious pattern of relapse in an extramedullary site following blinatumomab therapy. Clinicians should remain vigilant for signs of lineage switch and extramedullary disease during treatment, particularly in patients with KMT2A-rearranged B-ALL, and consider imaging or biopsy when new neurologic or systemic symptoms arise.

Objective: With the prolongation of life expectancy among multiple myeloma (MM) patients, the development of second primary malignancies (SPMs) has emerged as a serious issue, so it is worthwhile to explore the mechanisms and therapeutic strategy regarding SPMs secondary to MM.

Case report: We describe a patient with MM who developed secondary myelodysplastic syndrome (MDS) after 5 years of maintenance chemotherapy with ixazomib.

Discussion: In our case, the patient was young and did not have a cytogenetic examination; after a maintenance therapy with ixazomib for about 5 years, he developed the MDS. He was subsequently recommended for allogeneic hematopoietic stem cell transplantation (allo-HSCT) and remains alive.

Conclusions: The possibility of an association between ixazomib maintenance treatment and increased SPMs cannot be excluded, requiring future studies with large samples.

Poisoning from superwarfarin rodenticides should be considered in patients with unexplained bleeding due to vitamin K deficiency, with no other history of coagulopathy or anticoagulant use. A 37-year-old man originally presented to our hospital with two weeks of oral bleeding and two days of hematuria of unknown etiology. Workup showed severely prolonged prothrombin time and extremely low activity of coagulation factors II, VII, IX, and X, raising suspicion for vitamin K deficiency. His coagulation studies gradually corrected after daily administration of high-dose intravenous vitamin K. An anticoagulant poisoning panel ultimately revealed high levels of brodifacoum rodenticide-likely from rodent meat ingestion during his vacation to China 2 months before. Our case highlights the importance of a thorough social and toxicologic investigation in patients with unexplained coagulopathy consistent with significant vitamin K deficiency.

Allogeneic stem cell transplant is critical for treatment of certain hematologic malignancies. However, it has significant risks including relapsed malignancy, infection, and graft versus host disease. Rarely, de novo malignancy can arise from donor cells. Chimerism analysis is used to monitor engraftment and predict rejection or disease relapse. Our patient underwent an allogeneic transplant for myelodysplastic syndrome but had persistent pancytopenia despite donor lymphocyte infusion. This was due to donor-derived malignancy, which was predicted by loss of a satellite marker on chimerism analysis 6 months prior. This could have allowed earlier intervention and underscores the importance of detailed chimerism monitoring.

Anaplastic large cell lymphoma (ALCL) is a subtype of non-Hodgkin lymphoma characterized by the presence of CD30+ lymphocytes. While nodal involvement is common, extranodal manifestations are less frequent, with the skin being the most commonly affected organ, followed by the lungs, bones, and liver. We present the case of a 10-year-old girl who experienced a 4-month history of intermittent fever, abdominal pain, significant weight loss, and debilitating lumbar pain that restricted her mobility. Computed tomography scans performed at a national pediatric reference center in Lima, Peru, revealed osteolytic lesions primarily affecting the D12 vertebra. During hospitalization, the patient developed dyspnea and chest pain due to bilateral pleural effusions. The suspected diagnosis of ALK + ALCL was confirmed through lymph node biopsy, alongside the identification of malignant CD30+ cells in pleural fluid via flow cytometry. Following the initiation of chemotherapy, the patient experienced a complete resolution of symptoms. This case highlights the atypical simultaneous extranodal involvement of both bone and lung in pediatric ALK + ALCL, a manifestation rarely documented in the existing literature. Furthermore, it demonstrates the potential value of pleural fluid flow cytometry as a complementary diagnostic approach in ALCL, particularly when tissue biopsy is limited or not feasible. The insights provided in this report aim to assist healthcare professionals in diagnosing and managing similar cases encountered in clinical practice.