Case Reports in Hematology最新文献

This case describes an exceptionally rare co-occurrence of Hodgkin lymphoma (HL) and T-cell large granular lymphocytic leukaemia (T-LGLL), highlighting the diagnostic and therapeutic complexity of dual lymphoid neoplasms. A 39-year-old African man presented with B symptoms and was diagnosed with stage IIIB HL and achieved remission following six cycles of doxorubicin (adriamycin), bleomycin, vinblastine and dacarbazine (ABVD) chemotherapy with external beam radiotherapy. At diagnosis, bone marrow evaluation revealed lymphocytosis with aberrant T-cell phenotypes and biclonality in the T-cell receptor rearrangements, suggestive of a coexistent clonal T-cell process. Following treatment, he developed persistent lymphocytosis with conversion to a monoclonal T-cell population, indicating clonal selection. Nearly 3 years later, the patient relapsed with HL, accompanied by bone marrow infiltration by large granular lymphocytes with a monoclonal, aberrant cytotoxic T-cell phenotype, consistent with T-LGLL. This case is notable for the evolution of T-LGLL in the context of relapsed HL, possibly due to therapy related selection of a pre-existing T-cell clone. Literature on the coexistence of HL and T-LGLL is sparse, underscoring the rarity of this presentation.

Hemophilia is an X-linked inherited bleeding disorder associated with bleeding, which starts in infancy. The age of initiation of prophylaxis with clotting factor concentrate is limited by the intravenous mode of administration. Emicizumab, a Factor VIII (FVIII) mimetic, may be initiated for prophylaxis in persons with hemophilia A (HA) in infancy, given the subcutaneous route of administration. Bleeds that occur while on emicizumab prophylaxis are treated with clotting factor concentrate. The primary risk of clotting factor concentrate is inhibitor development, with the highest risk occurring within the first 10-20 exposure days. Individuals on emicizumab who develop inhibitors may still use emicizumab for prophylaxis but require a change in bleed management. We report bleeding and inhibitor outcomes in six infants with severe HA, who were effectively treated with emicizumab prophylaxis starting at a median age of 8 months old. Two cases were diagnosed with high-titer inhibitors during surveillance testing performed after initiation of emicizumab. They continued emicizumab for prophylaxis and changed bleed management to Recombinant factor VIIa (rFVIIa). This report highlights the importance of ongoing inhibitor surveillance during emicizumab prophylaxis to ensure inhibitor detection, which requires a change in bleed management.

Systemic mastocytosis is a rare, clonal mast cell disease neoplasm driven by the KIT D816V mutation in greater than 95% of cases. The complex clinical presentation of systemic mastocytosis can make diagnosis challenging. Treatment strategies often focus on management of symptoms, but many patients' symptoms are not well controlled on these regimens and have poor quality of life. We report the case of a 35-year-old Caucasian female who suffered repeated life-threatening anaphylactic episodes that greatly decreased her quality of life and that the best supportive care measures failed to control. Following extensive diagnostic evaluations including physical examination, clinical labs, hematology, and next-generation genetic screening, indolent systemic mastocytosis was confirmed by bone marrow biopsy according to World Health Organization 2016 criteria. The patient was subsequently treated with avapritinib, a selective tyrosine kinase inhibitor, after which she reported improved quality of life and physical activity. The diagnosis and optimal management of this complex and rare disease require a multidisciplinary approach combined with effective personalized therapeutic strategies. A confirmed diagnosis of indolent systemic mastocytosis led to the patient receiving an approved targeted treatment, with a favorable outcome. Novel precision therapies and refined diagnostic guidelines are critical to meet the high unmet needs of patients with indolent systemic mastocytosis and improve their quality of life.

Trial registration: ClinicalTrials.gov identifier: NCT03731260.

A 62-year-old man presented with left ear pain, sensorineural hearing loss, and high-grade fever. Peripheral blood tests revealed abnormal blood cells, prompting further investigation that led to a diagnosis of myelodysplastic syndromes (MDS) with paraneoplastic vasculitis. Since initial treatment with azacitidine (Aza) was insufficient, additional immunosuppressive therapy was required. The disease was effectively controlled with a combination of Aza, prednisolone, and azathioprine, with no relapse for 10 treatment courses. However, the disease later transformed into acute myeloid leukemia. This case highlights the efficacy and feasibility of additional treatment with steroids and azathioprine for refractory paraneoplastic vasculitis associated with MDS, while emphasizing the need for careful monitoring of leukemic progression under prolonged immunosuppression.

Acute Myeloid Leukemia (AML) is a heterogeneous malignancy arising from the malignant transformation of hematopoietic stem cells, characterized by the accumulation of blasts in the myeloid lineage. While common cytogenetic alterations in AML play a critical role in prognostic classification, rare chromosomal translocations may have distinct impacts on disease biology and treatment response. In this report, we present a high-risk AML case harboring the t(1; 19) translocation. By highlighting the diagnostic and therapeutic challenges posed by this uncommon genetic aberration, this case aims to contribute to clinical practice in the field of hematology.

Acute erythroid leukemia is a rare form of acute myeloid leukemia, comprising only 1% of myelogenous leukemia diagnoses. Presentations can vary and given its aggressive nature, prompt investigation and appropriate treatment are needed when suspicions arise. Here, we discuss a case of a 54-year-old male who initially presented with worsening fatigue and dyspnea on exertion and was found to have significant pancytopenia. Bone marrow biopsy initially demonstrated significant fibrosis concerning for primary myelofibrosis, though JAK2 testing was negative. He was started on JAK inhibitor therapy with pacritinib but clinically declined over the next several days with worsening diffuse pain and pancytopenia. A repeat bone marrow biopsy demonstrated acute erythroid leukemia with biallelic Tp53 mutations. He was subsequently started on FLAG-Ida-Ven induction, with complete remission obtained after induction. Transplant work-up was started, and he received a cycle of FLAG-Ida-Ven consolidation. Shortly after, the patient presented to an outside hospital with septic shock, at which point the patient expired. This case illustrates the aggressive nature of the disease, the need for confirmatory testing when diagnosis is suspected and the difficulty in management as the prognosis is poor and requires aggressive treatment that can lead to life-threatening sequelae.

Background: Idiopathic multicentric Castleman disease (iMCD) is a rare lymphadenopathic disorder characterized by hyperplasia of multiple lymph nodes and can be associated with a wide range of symptoms and presentations, from mild disease to life-threatening organ failure. Varied histopathological features and heterogeneous presentation of this rare entity can make the diagnosis quite challenging for both hematologists and other specialists who may encounter patients at various stages of disease progression.

Method: We analyze five different clinical presentations at our institution to demonstrate challenging routes of diagnosis and treatment complexities of iMCD. We aim to raise awareness to the importance of early diagnosis and appropriate management of this rare condition.

Results: All patients in this series presented with symptomatic lymphadenopathy. We highlight one rare instance of thrombocytopenia, anasarca/ascites, fever, reticulin fibrosis or renal dysfunction, and organomegaly (TAFRO) syndrome with elusive iMCD, which illustrates the challenges in the diagnosis of this rare condition and the importance of early recognition of its symptoms to avoid decompensation of patients. We also review established treatment guidelines and response criteria to siltuximab as outlined in the international consensus treatment guidelines.

Conclusion: These cases highlight the heterogeneity and challenging diagnosis of this rare cytokine-driven hematological disorder and the role of siltuximab in the treatment of iMCD.

Many tyrosine kinase inhibitors show nonspecific activity against multiple kinases, causing off-target effects when used in a broad patient population. This study evaluated the effectiveness of gilteritinib combined with venetoclax in patients with relapsed/refractory (R/R) acute myeloid leukemia (AML) or myelodysplastic neoplasms (MDS) with wild-type FLT3, who currently lack targeted therapy. After a 28-day cycle of venetoclax-gilteritinib therapy, one patient with R/R AML and other genetic alterations achieved minimal residual disease (MRD)-positive complete remission (CR) with incomplete hematologic recovery (CRi). Another patient with R/R ASXL1-mutated MDS/AML achieved morphologic leukemia-free state (MLFS) after one cycle, but cytopenias persisted across two cycles. A patient with R/R TP53-mutated AML related to myelodysplasia did not respond (NR) after two cycles, although the blast percentage in bone marrow (BM) and peripheral blood (PB) decreased by 50%. In a patient with R/R AML carrying an in-frame bZIP-mutated CEBPA, NR and disease progression occurred after one cycle, but elevated white blood cell (WBC) counts declined after treatment initiation and lasted for 2 weeks. These findings suggest that combining gilteritinib with venetoclax may reduce tumor burden in R/R AML/MDS patients with wild-type FLT3.

A patient with Burkitt's lymphoma developed upper gastrointestinal adverse events during immune consolidation therapy following chemotherapy combined with autologous stem cell transplantation. Subsequent administration of vedolizumab as adjunctive therapy resulted in improvement of the patient's symptoms. This case is expected to provide a reference for the expanded application of PD-1 inhibitors in non-Hodgkin's lymphoma.

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.