Hematology, Transfusion and Cell Therapy最新文献

{"title":"MANAGEMENT OF BLEEDING IN A PATIENT WITH ACQUIRED HAEMOPHILIA A: A CASE REPORT","authors":"Mihriban Yıldırım , Muzaffer Keklik , Şerife Emre Ünsal , Nesibe Taşer Kanat , Hacı Ahmet Aslaner , Gülşah Akyol , Neslihan Mandacı Şanlı , Ali Ünal","doi":"10.1016/j.htct.2024.11.003","DOIUrl":"10.1016/j.htct.2024.11.003","url":null,"abstract":"<div><h3>Objective</h3><div>Acquired haemophilia A (AHA) is a blood clotting disorder caused by the presence of autoantibodies that interfere with the function of factor VIII, often called factor VIII inhibitor (1). It has a prevalence of about one per million per year. Acquired haemophilia A is usually associated with autoimmune diseases, malignancies, skin disorders, drug interactions, and the postpartum period, and as many as 50% of cases have unknown causes (2). Bleeding often occurs under the skin (purpura/ecchymosis) and in soft tissues, and rarely in the joints (haemarthroses) (3). The presence of Factor VIII inhibitors causes a disruption in the intrinsic coagulation pathway, leading to prolongation of the activated partial thromboplastin time (APTT) parameter, which does not improve after mixing test, and has low Factor VIII activity (2). The management of patients with AHA aims to control bleeding and its complications and to eradicate factor VIII inhibitors. Immunosuppressive agents are usually used to eradicate factor inhibitors.</div><div>In this study, we report a case of acquired haemophilia A presenting with spontaneous unprovoked bruising and discuss the approach to diagnosis and how to alert the clinician to suspect this potentially rare but devastating disease.</div></div><div><h3>Case report</h3><div>A 67-year-old man presented to the emergency department with bruising on his left hand and right leg for approximately 10 days. The patient had no history of trauma.</div><div>He had a history of hypertension and chronic obstructive pulmonary disease. Approximately 2 months prior to presentation, he had complained of bruising on his arms after taking medication (etodolac, ampicillin-sulbactam) (Figure 1). There had been no bleeding after the cholecystectomy.</div><div>Physical examination revealed an anteroposterior diffuse haematoma extending from the right inguinal to the popliteal area and a haematoma on the dorsal aspect of the left hand (Figure 2). Other systemic examinations were normal.</div><div>All laboratory results showed the initial complete blood count; normochromic anaemia, normal platelet count and prolonged activated partial thromboplastin time (APTT) with normal prothrombin time (PT). Liver and renal function tests were within normal limits. The test results showed very low factor VIII activity with normal von Willlebrand factor and fibrinogen levels (factor VIII activity: <0.4%). There was no improvement in the mixing test. The factor VIII inhibitor level was 96 Bethesda Units (BU). Workup for connective tissue disease and malignancy screening were otherwise negative.</div><div>The patient's USG showed a 21 × 20 × 65 mm haematoma in the muscle planes of the right thigh, which was drained by interventional radiology.</div><div>The patient was then admitted to the haematology clinic and started on methylprednisolone at 1 mg/kg/day. However, recombinant factor VIIa followed by activated prothrombin complex concen","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S22-S23"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"EVALUATION OF THE IMPACT OF DEMOGRAPHIC DATA AND CLINICOPATHOLOGICAL RISK FACTORS ON TREATMENT RESPONSE AND SURVIVAL IN PATIENTS WITH PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA: A SINGLE-CENTER EXPERIENCE","authors":"Bulut Sat , Şendağ Yaslıkaya , Ertuğrul Bayram , Berksoy Şahin","doi":"10.1016/j.htct.2024.11.005","DOIUrl":"10.1016/j.htct.2024.11.005","url":null,"abstract":"<div><h3>Objective</h3><div>Primary central nervous system lymphoma (PCNSL) is a large B-cell lymphoma originating from specific regions such as the brain, spinal cord, and leptomeninges (1). The pathophysiology of PCNSL is not fully understood, but alterations in genes involved in the binding of immunoglobulins and B-cell receptors expressed in the central nervous system (CNS) and in NF-κB signaling are thought to play a central role (2,3). Other factors, such as T cells, macrophages/microglia, endothelial cells, chemokines, and interleukins, may also have important roles. The presenting symptoms of patients vary depending on the affected regions of the CNS (4). Standard treatment includes methotrexate-based polychemotherapy followed by age-adapted cytotoxic therapies and autologous stem cell transplantation (HDC-ASCT)(5,6). For patients ineligible for or unwilling to undergo transplantation, whole-brain radiotherapy (WBRT) or single-agent therapy may be used for consolidation (7). Personalized treatments, primary radiotherapy, or supportive care are options for patients with insufficient performance for treatment (8). Despite these treatments, 15-25% of patients do not respond to chemotherapy, and 25-50% relapse after an initial response. Although recurrence rates are higher in elderly patients, the prognosis of relapsed patients is poor, regardless of age (9). There is a need for further research to identify diagnostic biomarkers, develop more effective and less neurotoxic treatments, improve drug penetration into the CNS, and explore immunotherapies and adaptive cell therapies.</div></div><div><h3>Methodology</h3><div>In this study, we aimed to evaluate the treatment responses and survival of patients with primary central nervous system lymphoma treated and followed at the Çukurova University Medical Oncology Clinic, based on their demographic data and clinicopathological risk factors. We reviewed the medical records of all lymphoma patients treated at our hospital, and 26 patients with central nervous system lymphoma were included in the study. We assessed the patients' age, gender, comorbidities, diagnosis dates, tumor locations, presenting symptoms, etiopathological factors, laboratory values, including baseline B2-microglobulin, IPI, and MSKCC scores at presentation. Pathology reports were evaluated for c-myc, Bcl-2, Bcl-6, and Ki-67 immunohistochemical markers, and FISH results, if available. The primary treatment options, treatment initiation dates, number of treatment cycles, best response, and its date were recorded. We also evaluated the radiotherapies received in addition to systemic chemotherapy. Disease progression, the date of progression, second-line treatments in case of progression, responses, and any autologous transplantation or maintenance therapies were documented. Survival outcomes, including progression-free survival and overall survival, were analyzed in relation to clinicopathological risk factors.</div></div><div><h3>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S24-S25"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DETERMINATION OF FREQUENCY AND RISK FACTORS OF SECONDARY MALIGNANCY DEVELOPMENT IN HEMATOLOGICAL MALIGNANCIES","authors":"Ennur Ramadan , Güven Çetin , Özge Pasin","doi":"10.1016/j.htct.2024.11.019","DOIUrl":"10.1016/j.htct.2024.11.019","url":null,"abstract":"<div><h3>Objective</h3><div>Cancer remains a significant challenge within the healthcare system. According to the 2022 GLOBOCAN report, approximately 20 million people were diagnosed with cancer, and 10 million people passed away due to the disease. A significant improvement in the prevention, diagnosis, and treatment of cancer has resulted in a greater chance of overall survival for patients. Although survival rates for these patients have improved, they may be at risk for secondary malignancies.</div><div>Secondary malignancy (SM) is defined as a tumor that differ from the primary tumor in terms of location, histopathology and genetics. Secondary malignancies could be classified into two categories based on the time of occurrence: synchronous tumors occur within six months of an initial primary cancer, while metachronous tumors occur after six months. Despite various genetic and environmental factors being implicated, the pathogenesis remains unclear. There are no standard protocols for screening, prevention, diagnosis, or treatment. Additionally, most studies on this topic conducted on data from the SEER (Surveillance, Epidemiology, and End Results) database. Although this database has the advantage of including many patients, it is insufficient to examine potential risk factors because it doesn't include individual medical information such as personal and family medical history, or alcohol and smoking use.</div><div>In this study, we aimed to reveal the incidence of secondary malignancy in hematological cancer patients, analyze the potential risk factors and determine which factors are associated with the development of secondary malignancies.</div></div><div><h3>Methodology</h3><div>This retrospective study was conducted on 2,003 patients diagnosed with Hodgkin Lymphoma (HL), Non-Hodgkin Lymphoma (NHL), Chronic Lymphocytic Leukemia (CLL), Essential Thrombocytosis (ET), Chronic Myeloid Leukemia (CML), Primary Myelofibrosis (PMF), Polycythemia Vera (PV), Myelodysplastic Syndrome (MDS) and Multiple Myeloma (MM) who applied to the Hematology Clinic of Bezmialem Vakif University Hospital between February 2012 and May 2024. Patients aged above 18 years and had adequate medical records were included in the study. Patients with a prior history of cancer or an inadequate medical history were excluded.</div><div>The study group consisted of patients with secondary malignancies. Control subjects were matched to the study group based on age, gender, and diagnosis. Clinical parameters compared between the study and control groups included age, gender, presence of B symptoms, stage (early or advanced), primary involvement (nodal or extranodal), extranodal involvement, relapse, hematopoietic stem cell transplantation (HSCT), treatments received (radiotherapy and chemotherapy), modifiable risk factors (diabetes, hypertension, smoking, alcohol use), and a family history of cancer.</div><div>For statistical analysis, occurrences of SM by the site of diagnosis","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S35-S38"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SUCCESSFUL REDUCTION OF TRANSFUSION DEPENDENCE WITH LUSPATERCEPT IN A PATIENT WITH THALASSEMIA MAJOR: A CASE REPORT","authors":"Gökhan Demirci ,&nbsp;Birol Güvenç","doi":"10.1016/j.htct.2024.11.025","DOIUrl":"10.1016/j.htct.2024.11.025","url":null,"abstract":"<div><h3>Objective</h3><div>Thalassemia Major is a disorder of ineffective erythropoiesis with severe anemia, often requiring transfusions of RBCs throughout life. Transfusions are often required so frequently that the risk for iron overload and other complications strongly impairs the quality of life. Recently, this new erythroid maturation agent, luspatercept, has shown promise in reducing the transfusion requirements in patients with transfusion-dependent thalassemia.</div></div><div><h3>Case Report</h3><div>A 40-year-old male patient with Thalassemia Major has been receiving regular erythrocyte suspensions since 2011, amounting to a total of 472 units by November 2023. The patient initially required an average of 2 units of RBCs per month to manage symptoms of fatigue and anemia. On February 17, 2023, the Luspatercept therapy was started at 75 mg every three weeks. Over the span of 22 treatments, one week after another, the need for RBC transfusions gradually diminished. The last transfusion was on November 21, 2023. The patient has since then maintained stable hemoglobin without further transfusion needs for approximately 10 months, a very impressive clinical improvement.</div></div><div><h3>Discussion</h3><div>Therefore, this case offers a real-world view of the regard in which luspatercept proves effective in reducing transfusion requirements among patients suffering from Thalassemia Major. The sustained response for a period beyond 10 months really opens up possibilities for an overall better quality of life and reduction of the transfusion burden, which are important objectives in the management of transfusion-dependent patients. This report underlines early adoption of novel therapies such as luspatercept, which is considered instrumental in lessening complications resulting from chronic transfusions. This needs further studies and clinical discussions to optimize the dosing and duration of treatment in similar patients. This case adds to the growing body of evidence regarding the integration of erythroid maturation agents into standard management in patients with thalassemia.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Page S41"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143339827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SUCCESSFUL CHEMOTHERAPY ADMINISTRATION DESPITE HYPERSPLENISM AND PANCYTOPENIA: A CASE OF METASTATIC RECTAL ADENOCARCINOMA","authors":"Adil Uğur Kaan Güngör ,&nbsp;Abdurrahman Aykut ,&nbsp;Berksoy Sahin ,&nbsp;Hatice Asoğlu Rüzgar","doi":"10.1016/j.htct.2024.11.064","DOIUrl":"10.1016/j.htct.2024.11.064","url":null,"abstract":"<div><h3>Introduction</h3><div>Cytopenias in oncology patients present a significant barrier to the administration of chemotherapy. Hypersplenism is one of the leading causes of cytopenia. In this case report, we aim to present a patient diagnosed with metastatic rectal adenocarcinoma, who developed hypersplenism due to liver metastasis and was successfully treated with chemotherapy despite the cytopenias.</div></div><div><h3>Case Report</h3><div>In September 2023, a 42-year-old female patient was diagnosed with rectal adenocarcinoma with liver metastasis. Genetic analysis revealed K-Ras, N-Ras, and BRAF mutant/wild type, MSI stable, and Her2 negative. The patient received 3 cycles of FOLFIRINOX chemotherapy. During follow-up, her hemogram results were as follows: hemoglobin: 8.6 g/dL, platelets: 26 × 10³/µL, leukocytes: 0.81 × 10³/µL, and neutrophils: 0.37 × 10³/µL. PET-CT evaluation showed regression in the metastatic lesions and newly developed splenomegaly (spleen size: 18 cm). The tumor board assessed the resectability of liver metastases, but surgery was not considered due to the anticipated insufficient remnant liver function, and local ablative therapy was administered. Arterial and venous portal ultrasonography performed to investigate the etiology of the splenomegaly showed normal findings, and no focal lesion was detected in the spleen. No infectious pathology was identified as a cause of the splenomegaly. The cytopenia was attributed to hypersplenism secondary to liver metastasis of rectal cancer. The patient was subsequently treated with 3 additional cycles of FOLFIRINOX and 11 cycles of FOLFOX combined with Bevacizumab. Granulocyte colony-stimulating factor was not administered during the treatment process. The patient remains under oncological follow-up, and chemotherapy treatment is ongoing.</div></div><div><h3>Conclusion</h3><div>Splenomegaly and hypersplenism are important causes of pancytopenia. Our clinical experience demonstrated that chemotherapy did not exacerbate cytopenias in a patient with metastatic rectal adenocarcinoma who developed hypersplenism and pancytopenia. We have shown that with close monitoring and supportive care, chemotherapy can be safely administered in patients with pancytopenia due to hypersplenism.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S68-S69"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143339866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CASE REPORT: SIMULTANEOUS OCCURRENCE OF PLASMA AND B CELL MALIGNANCY","authors":"Nigar Abdullayeva ,&nbsp;Damla Cagla Patır ,&nbsp;Selin Kır ,&nbsp;Ali Yılmazer ,&nbsp;Derya Demir ,&nbsp;Mehmet Soylu ,&nbsp;Mahmut Töbü","doi":"10.1016/j.htct.2024.11.010","DOIUrl":"10.1016/j.htct.2024.11.010","url":null,"abstract":"<div><h3>Objective</h3><div>Multiple myeloma (MM) and chronic lymphocytic leukemia (CLL) are two distinct hematological malignancies thought to arise at different stages of the B cell maturation pathway.</div><div>Here, we aimed to present our approach to such a patient.</div></div><div><h3>Case report</h3><div>A 59-year-old male patient was examined for hematuria in 2019, lymphocytosis was detected, and flow cytometry (FC) was performed. The result was found to be compatible with CLL. The patient was evaluated as Binet A, Rai 0 at the diagnosis, and was followed without treatment.</div><div>In the fourth year of treatment-free follow-up, the patient developed severe B symptoms and widespread lymphadenopathies (LAP), splenomegaly (size 15.5 cm) on imaging, and shortened lymphocyte doubling time, so bone marrow aspiration biopsy (BMAB), FC and cytogenetic tests were performed. The patient had a CLL immunophenotype score of 1 in flow cytometry, and cytogenetics showed negative 17p del and TP53 mutations. In BMAB, 80% atypical morphology and immunohistochemical (IHI) examination showed small lymphoid cells with CD19(+), CD20(+), CD23(+), and CD5(+) staining. The patient was evaluated as Binet B, Rai 2, and got 6 cycles of Chemoimmunotherapy (Rituximab, Fludarabine, Cyclophosphamide). After treatment, B's symptoms regressed, and LAP and splenomegaly returned to normal.</div><div>The patient developed neutropenia requiring granulocyte colony-stimulating factor (G-CSF) during follow-up, therefore, the patient underwent repeat BMAB. In the result, plasma cells with intense kappa positive staining were observed, and in the IHI examination, the CD38 and 138 positivity rates were evaluated as 20%. The patient, who did not have hypercalcemia, renal dysfunction, anemia, bone lesions, and extramedullary involvement, was assessed as MGUS, neutropenia resolved spontaneously during follow-up, and it was decided to follow the patient at three-month intervals without treatment.</div></div><div><h3>Conclusion</h3><div>MM and CLL were rare in the same patient, and there is limited information regarding clinical outcomes and management. The clonal relationship between them is controversial.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Page S28"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SURVIVAL OUTCOMES OF AUTOLOGOUS STEM CELL TRANSPLANTATION IN LYMPHOMA PATIENTS","authors":"Elif Yıldız ,&nbsp;Güven Çetin ,&nbsp;Özge Pasin","doi":"10.1016/j.htct.2024.11.012","DOIUrl":"10.1016/j.htct.2024.11.012","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;Lymphomas, a diverse group of hematological malignancies, vary significantly in their prognosis, survival outcomes and response to treatment. High-dose chemotherapy followed by autologous stem cell transplantation (ASCT) has been frequently used to treat patients with relapsed or refractory lymphoma, offering a potential for long-term remission. However, survival outcomes after ASCT can differ substantially depending on the type of lymphoma. This study aims to compare survival outcomes across six different lymphoma subtypes—Hodgkin's lymphoma (HL), diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), marginal zone lymphoma (MZL), mantle cell lymphoma (MCL), and T-cell lymphoma—in patients who have undergone autologous stem cell transplantation. While most reported data in the literature focus on a single lymphoma subtype, this study examined multiple subtypes within a single center, allowing for a direct comparison of survival outcomes. This study also aimed to compare these outcomes with survival and relapse rates reported in the literature, identifying potential areas for further investigation into the underlying causes of observed differences.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methodology&lt;/h3&gt;&lt;div&gt;This retrospective study took place at Bezmialem Vakif University Hospital, İstanbul, Turkey. Medical records were reviewed of 81 patients from six different lymphoma subtypes who underwent autologous stem cell transplantation (ASCT) between January 2012 and December 2023. We included 20 HL, 22 DLBCL, 17 FL, 6 MZL, 10 MCL, and 6 T-cell lymphoma patients. Lymphoma diagnoses were confirmed through pathology reports. Data were collected on each patient's age, sex, time of post-transplant relapse, time of death and last follow-up visit from patient records. Only patients who followed up at least 12 months after the ASCT were included for analysis. For survival analysis, research will evaluate overall survival (OS) and progression-free survival (PFS). PFS was defined as the time from transplantation to disease progression, relapse, or death from any cause, while OS was defined as the time from transplantation to death or the last follow-up. PFS and OS were calculated using the Kaplan-Meier method, and survival curves were compared using the log-rank test. Cox proportional hazards regression was used to evaluate the effect of age, sex, and lymphoma subtype on both PFS and OS. A p-value of less than 0.05 was considered statistically significant. Univariate and multivariate logistic regression were used to check how other factors might affect survival outcomes.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;A total of 81 patients’ characteristics are summarized in Table 1. Patients aged between 18 and 79 years, with a mean age of 45.79±16.01. A significant age difference was found between HL and other groups and between DLBCL and MCL patients (p &lt; 0.05). 2-year PFS was %72.4 [Standart Error (SE)=%5.3] and OS was %77.6 (SE=%4.8) The estimat","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S29-S31"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RARE CASE! SECOND PRIMARY MALIGNANCY IN LANGERHANS CELL HISTIOCYTOSIS, A JAK2+ CASE","authors":"Engin Yola ,&nbsp;Aslı Odabaşı Giden ,&nbsp;Caner Çulha ,&nbsp;Düzgün Özatlı","doi":"10.1016/j.htct.2024.11.045","DOIUrl":"10.1016/j.htct.2024.11.045","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplasm characterised by the infiltration of CD1a+CD207+ myeloid dendritic cells and immune cells, thus described as an inflammatory myeloid neoplasm that clonally expands. LCH is a histiocytic neoplasm affecting both paediatric and adult populations, with an estimated incidence of 3 to 5 cases per million children and 1 to 2 cases per million adults. LCH can involve all organ systems, with symptoms ranging from single organ disease to multi-system disease. While it can appear in any organ system, LCH has a particular affinity for bones, skin, lungs, and the pituitary gland. In 2016, LCH was reclassified from a reactive disorder to an inflammatory myeloid neoplasm following the identification of the recurrent BRAF V600E mutation in half of the cases and the observation of clonality. Recently, additional BRAF mutations that activate the MAP kinase pathway have been demonstrated, shedding more light on the pathogenesis of LCH. Several studies have suggested a high prevalence of second primary malignancies, including haematological and solid organ neoplasms, in LCH patients.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Case Report&lt;/h3&gt;&lt;div&gt;A 58-year-old male patient, with a known history of hypertension and hypothyroidism, presented to a medical facility in Germany in 2011 with skin lesions on the chest and neck swelling. Following lymph node and skin punch biopsies from the sternum, the patient was diagnosed with LCH, with imaging revealing involvement in the frontal bone of the skull, neck, spleen, axillary, liver, lungs, and skin. The patient was treated with steroids. In 2014, while on holiday in Istanbul, the patient was given 6 cycles of vinblastine in addition to steroids. Steroid treatment was completed over 5 years, followed by regular follow-up. In 2021, the patient presented to Ordu State Hospital with fatigue and skin rashes resembling LCH lesions. Investigations revealed thrombocytosis, erythrocytosis, and leukocytosis. Bone marrow biopsy was reported as normal, and a punch biopsy of the skin lesions showed no evidence supporting LCH. Cytogenetic tests, however, revealed a JAK2+ mutation, which had not been detected in previous tests. The patient was started on hydroxyurea, and imaging showed a 5 cm mass in the spleen, for which splenectomy was recommended, though the patient declined and sought further consultation. Our cytogenetic studies confirmed BCRABL polymerase chain reaction (PCR), PML/RARA, and AML/MDS panel negativity, with JAK2+ positivity. Erythropoietin levels were 6 mU/ml (normal range: 3.7-31.5), LDH was 218 u/l, sedimentation rate was 60 mm/hour, platelet count was 517,000/µl, and white blood cell (WBC) count was 13,000/µl. Physical examination revealed remnants of old skin lesions (Figure 1), and there were no palpable lymph nodes or masses. Imaging showed a significant mass in the spleen and involvement in the frontal bone, liver, lungs, stomach, an","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S55-S57"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I: PATIENT WITH ANEMIA AND SKELETAL ANOMALY","authors":"Sevde Yazıcı Şahin ,&nbsp;Şeyma Yılmaz ,&nbsp;Haşim Atakan Erol ,&nbsp;Esra Terzi Demirsoy ,&nbsp;Ayfer Gedük ,&nbsp;Özgür Mehtap ,&nbsp;Pınar Tarkun ,&nbsp;Abdullah Hacıhanifioğlu","doi":"10.1016/j.htct.2024.11.018","DOIUrl":"10.1016/j.htct.2024.11.018","url":null,"abstract":"<div><h3>Objective</h3><div>Congenital dyserythropoietic anemias (CDAs) are inherited anemias that affect the erythroid lineage. CDAs are classified into the 3 major types (I, II, III) according to morphological, clinical and genetic features. ⁽¹⁾ Before genetic diagnostic methods, bone marrow morphological abnormalities were the key diagnostic features of CDAs, such as erythroid hyperplasia with thin internuclear chromatin bridges between erythroblasts, binuclearity or multinuclearity of erythroblasts.⁽²⁾ Next generation sequencing (NGS) has revolutionized the field of diagnosis. CDA type I (CDAI) is characterized by severe or moderate anemia and congenital anomalies such as skeletal abnormalities, chest deformity and short stature with identification of biallelic pathogenic variants in <em>CDAN1</em> or <em>CDIN1.</em> ⁽³⁾ The standard clinical management of CDA patients is measurement of hemoglobin and iron, transferrin saturation and serum ferritin concentration to monitor iron overload every three to six months.</div></div><div><h3>Case report</h3><div>28 year old female patient presented to our clinic with normocytic anemia (hb: 6,50 g/dL), splenomegaly, short stature, limb and vertebral deformities. Clinically, the patient was evaluated for anemia. All routine blood investigations were done (Table 1). Bone marrow biopsy showed hypercellularity for age with increased rate in the erythroid series with marked dysmorphism findings. (figure 1) Next-generation sequencing was performed for diagnosis in the patient with dyserythropoiesis and morphological anomaly. Homozygous variant of CDIN1 gene was detected. Detailed NGS and karyotype analysis of the patient are shown in table 2 and 3. The patient diagnosed with congenital dyserythropoietic anemia type 1 and followed up with deferasirox and erythrocyte replacement.</div></div><div><h3>Conclusion</h3><div>CDAs are characterized by clinical and genetic heterogeneities. NGS based testing allows diagnosis. The increased knowledge of the genetic features and the detailed phenotyping of these patients will allow for the earliest start of the necessary treatment for the affected patients, as well as the monitoring of hemoglobin and iron levels. References:(1) Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750. (2) Roy NBA, Babbs C. The pathogenesis, diagnosis and management of CDA type I. Br J Haematol. 2019. doi: 10.1111/bjh.15817. (3) Heimpel H, Kellermann K, Neuschwander N, Högel J, Schwarz K. The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica. 2010;95(6):1034-1036</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S34-S35"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143340357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of febrile neutropenia: consensus of the Brazilian Association of Hematology, Blood Transfusion and Cell Therapy - ABHH","authors":"Marcio Nucci ,&nbsp;Celso Arrais-Rodrigues ,&nbsp;Maria Daniela Bergamasco ,&nbsp;Marcia Garnica ,&nbsp;Ana Beatriz Firmato Gloria ,&nbsp;Mariana Guarana ,&nbsp;Clarisse Machado ,&nbsp;Jessica Ramos ,&nbsp;Marco Aurelio Salvino ,&nbsp;Belinda Simões","doi":"10.1016/j.htct.2024.11.119","DOIUrl":"10.1016/j.htct.2024.11.119","url":null,"abstract":"<div><div>Febrile neutropenia is a major complication of the treatment of patients with hematologic diseases. Recent epidemiologic changes, with an increase in infection caused by drug-resistant bacteria, represent a major challenge for the proper management of febrile neutropenia. The impact of these changes in the epidemiology of infection may vary according to the region. In this document we present recommendations from the Infectious Diseases Committee of the Brazilian Association of Hematology, Blood Transfusion and Cell Therapy (ABHH) for the management of febrile neutropenia in hematologic patients. The consensus was developed by ten experts in the field, using the Delphi methodology. In the document we provide recommendations for the initial workup, prophylaxis, empiric antibiotic and antifungal therapy, modifications in the empiric regimen and criteria for discontinuing antimicrobial therapy.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"46 ","pages":"Pages S346-S361"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11726106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}