Case Reports in Hematology最新文献

Infantile hepatic hemangioma (IHH) is rare, but the most common benign hepatic tumor in the first year of life. It has a characteristic course with perinatal presentation, increasing growth during the first year of life, and subsequent shrinkage of the vascular lesions. The authors report a 12-month-old male infant who presented with severe abdominal distension and respiratory distress while under workup for diffuse IHH since 2 months of age. In addition, the child's situation was complicated by two uncommon occurrences: bilateral chylothorax and the presence of neuroblasts and rosette cells in the pleural fluid. The detection of such cells in pleural fluid is extremely rare in pediatric neuroblastoma cases. This complex medical scenario highlights the challenges faced in diagnosing and managing rare pediatric conditions, emphasizing the need for careful monitoring and comprehensive diagnostic approaches in similar cases.

Cytokine release syndrome (CRS) is a rare systemic inflammatory response that can be triggered by certain drugs and infections, commonly diagnosed at a disseminated stage, leading to poor prognosis. This has been well described following chimeric antigen receptor T-cell (CAR-T) therapy but has rarely been reported following antiprogrammed death ligand-1 (PDL-1) therapy. We present the case of an 86-year-old male with metastatic anal melanoma who developed CRS after his 4th cycle of pembrolizumab. His initial presentation was thought to be related to sepsis given his high fevers and hypotension; however, given the lack of improvement despite an extensive workup and broad coverage with antibiotics, CRS was suspected as a potential etiology of his symptoms. Tocilizumab and steroids were successfully used and resulted in the resolution of symptoms without relapse. This case highlights the diagnostic and therapeutic challenges posed by immunotherapy-induced CRS and emphasizes the importance of early recognition to achieve good outcomes.

A 76-year-old man with a history of atrial fibrillation treated with warfarin, renal calculi with a history of lithotripsy, hypertension, anxiety, and diabetes mellitus with recent tick exposure presented with abdominal pain, fatigue, nausea, and fever with chills. Workup revealed thrombocytopenia and hemolysis. Due to the likelihood of immune thrombocytopenia (ITP) secondary to a viral etiology, the patient was initially started on steroids. The patient subsequently tested positive for babesiosis on peripheral smear and polymerase chain reaction. A peripheral smear showed giant platelets and was positive for immunoglobulin M platelet antibodies. Other etiologies of thrombocytopenia were excluded. The patient was diagnosed with ITP secondary to babesiosis. Antibiotics were initiated to treat babesiosis. The platelet count was nonresponsive to steroids and gradually improved following intravenous immunoglobulin administration and continued antibiotic treatment. This rare case highlights the importance of considering ITP secondary to babesiosis as the etiology of severe thrombocytopenia in babesiosis, as appropriate recognition and early treatment of babesiosis and ITP can prevent serious complications.

Vitamin B6 (VB6) is a vital coenzyme for δ-aminolevulinic acid synthase (ALAS) in heme biosynthesis. We report a 49-year-old male with severe microcytic anemia and ringed sideroblasts initially diagnosed as myelodysplastic syndrome (MDS). VB6 deficiency, attributed to long-term amoxapine use, was identified. His anemia improved significantly with VB6 supplementation and resolved completely after discontinuing amoxapine. This case highlights the need to consider VB6 deficiency in anemia with ringed sideroblasts.

Acquired inhibitors of coagulation factor XI (FXI) are a rare cause of bleeding disorders, typically associated with autoimmune diseases or malignancies. Although uncommon, these inhibitors can lead to severe bleeding, which can be difficult to manage. A limited number of cases have been reported where acquired FXI inhibitors are associated with malignancy. This case report presented a rare occurrence of acquired coagulation FXI inhibitors in a 60-year-old male with sigmoid colon adenocarcinoma. The patient experienced severe postpolypectomy gastrointestinal bleeding and was diagnosed with FXI inhibitors after laboratory tests revealed prolonged activated partial thromboplastin time (aPTT) and reduced activities of factors IX, XI, and XII. The patient underwent surgery, and life-threatening hemorrhagic shock developed. He was reoperated, and treatment with recombinant factor VIIa (rFVIIa), tranexamic acid, and oral corticosteroids was initiated. The therapy successfully controlled the bleeding and resolved the inhibitor. This case highlights the risk of severe bleeding in patients with acquired FXI inhibitors and emphasizes the importance of early diagnosis and personalized treatment. Regular monitoring is essential due to the risk of relapse, particularly in cases associated with malignancy.

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrangements of the PDGFRB gene, particularly the ETV6::PDGFRB rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the MPRIP::PDGFRB fusion gene are rarely documented. In this case report, we present a 32-year-old previously healthy Thai male who presented to the hospital with constitutional symptoms and marked splenomegaly. His complete blood count revealed mild anemia, marked leukocytosis with hypereosinophilia, and mild thrombocytopenia. A bone marrow study showed hypercellular marrow with granulocytic hyperplasia extensively involved with eosinophils, without morphological evidence of blasts. Conventional cytogenetics identified a t (5; 17) (q33; p13). Further targeted RNA analysis using next-generation sequencing (NGS) detected a fusion gene involving MPRIP::PDGFRB. The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and MPRIP::PDGFRB rearrangement in the chronic-phase disease and was initiated on oral imatinib at a daily dose of 100 mg. One month after initiating the treatment, the patient achieved a hematological response consistent with complete response (CR) criteria. Imatinib therapy has been well-tolerated without reported adverse events, and a 1-year molecular assessment confirmed the achievement of complete molecular response (CMR).

Langerhans cell histiocytosis (LCH) is a rare disease of proliferation of histiocytic disorder composed of histologically bland Langerhans cells mixed with reactive mononuclear and granulocytic cells, and often accompanied by eosinophils. These cells are characterized by expression of CD1a, S-100 and Langerin proteins. The clinical presentation ranges from indolent to aggressive, depending on the anatomic site involved which can be unifocal, multifocal, unisystemic, or multifocal and multisystemic disease. Cases involving LCH disease and treatment involving the liver are rare, especially in adult patients. Herein, we discuss a case of a 56-year-old male patient who presented with jaundice, acute abdominal pain, and a history of elevated liver function tests assumed to be caused by fatty liver disease. However, a computed tomography (CT) scan revealed a cholangiocarcinoma with associated biliary dilatation and cirrhosis. Pathological examination revealed Langerhans cell involvement. Negative bone marrow biopsy and bone scan indicated that the patient was indeed suffering from unisystemic LCH with isolated liver involvement causing cirrhosis. Patient underwent orthotopic liver transplantation (LT) and has since shown stable liver function without external therapy for 3 years.

Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in NPM1 and according to the WHO 5^th edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with NPM1 mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion ETV6::ACSL6. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for NPM1, the patient relapsed shortly after stem cell transplantation and died.

Primary cutaneous gamma-delta T-cell lymphoma (PCGD-TCL) is a very rare subtype of cutaneous T-cell lymphoma. We report the case of a young Polynesian male who presented with fever and an abdominal wall rash and highlight the workup leading to the diagnosis of PCGD-TCL. As PCGD-TCL is rare and mimics other medical conditions, its diagnosis requires a high index of suspicion and can be challenging. Hemophagocytic lymphohistiocytosis (HLH) occurs with PCGD-TCL and can be a marker of more invasive disease. There are no well-defined treatment guidelines, but the most common treatment approach is anthracycline-based multiagent chemotherapy followed by allogeneic stem cell transplant. Targeted therapies are being increasingly used as well. Prognosis remains poor and 5-year survival is < 20%, particularly in more invasive disease. We highlight how this patient's demographic varies from the published literature and discuss some unique particulars of the diagnostic evaluation and treatment, especially in the presence of concurrent HLH.

Introduction: This case report describes a 17-year-old female patient who initially presented with vaginal bleeding, weight loss, and nonspecific symptoms, which led to the diagnosis of B-cell acute lymphoblastic leukemia (B-ALL). This unusual presentation highlights the importance of considering hematological malignancies in patients with atypical symptoms. Case Presentation: The patient, married for 2 weeks, experienced vaginal bleeding following her first sexual intercourse, which did not resolve spontaneously. She also reported a 6 kg weight loss over the past 3-4 months, hair loss, and a history of dysmenorrhea and an ovarian cyst detected 2 years prior. Laboratory investigations revealed leukocytosis (WBC: 16,500/μL), anemia (Hb: 11.4 g/dL), and thrombocytopenia (Plt: 44,000/μL). Bone marrow aspiration (BMA) and flow cytometry confirmed the diagnosis of B-ALL, revealing a high percentage of atypical lymphoid cells. Discussion: This case underscores the rarity of diagnosing hematological malignancies in patients with vaginal bleeding. The patient's symptoms, including weight loss and thrombocytopenia, should have prompted a more comprehensive evaluation. Early recognition of B-ALL is crucial as prompt treatment significantly improves outcomes. The patient was started on prednisolone and alkalinized fluids, and her condition was closely monitored. Conclusion: Vaginal bleeding in young patients should not be dismissed as a minor issue, especially when accompanied by other systemic symptoms like weight loss and thrombocytopenia. Early diagnosis of B-ALL in such cases can lead to better management and prognosis.