Hematology Reports最新文献

Background: Plasma cell granuloma is generally considered a pseudotumor formed by reactive, polyclonal plasma cells. Although most cases can show polyclonal gammaglobulin production, quite a minority may exhibit monoclonal gammopathy, which mimics plasma cell neoplasms such as multiple myeloma or plasmacytoma. Because of this overlap, distinguishing reactive monoclonal proliferation from true malignancy is clinically essential. Case report: A 79-year-old man was presented with an anterior chest wall mass that had grown during investigation for fever of unknown origin. ¹⁸F-fluorodeoxyglucose positron emission tomography (FDG-PET) revealed a sternal bone mass (SUVmax 9.04), aortic uptake of bifurcation (SUVmax 7.08), and Th7/8 soft tissue mass (SUVmax 5.32). Results from the FDG-PET revealed infectious reactions. A chest wall biopsy revealed high degree proliferation of plasma cells. Hematologists suspected plasmacytoma. The pathologist did not diagnose plasmacytoma; thus, there remains a possibility of reactive granuloma lesion. Lastly, the patient's vertebral soft tissue mass culture yielded Staphylococcus aureus. The patient was treated with antimicrobials and responded well. Discussion: In the presented case, FDG-PET revealed an aortic mass with an aortic aneurysm, a sternal mass, and a vertebral mass, as multiple lesions. The abscess lesions that initially resembled multiple plasmacytomas were identified as plasma cell granuloma. The final diagnosis required demonstrating biopsy and definitive monoclonality. Light-chain restriction or monoclonal protein should be considered in the clinical context. Ultimately, this case highlights the diagnostic value of FDG-PET and the importance of differentiating reactive plasma cell granuloma from true plasma cell neoplasm to guide appropriate management. In conclusion, a reactive plasma cell granuloma associated with infectious aortitis can exhibit monoclonal gammopathy, mimicking plasma cell neoplasm. Careful pathological and clinical evaluation is essential to avoid misdiagnosis and ensure proper treatment.

Background and Clinical Significance: Diffuse Large B-Cell Lymphoma (DLBCL) is a morphologically and molecularly heterogeneous lymphoproliferative disorder that originates from a clonal B-cell ancestor. Patients usually present with rapidly enlarging lymph nodes or mass(es) at single or multiple sites. Generally, 18F-Fluorodeoxyglucose (18F-FDG) positron emission tomography with computed tomography (PET-CT) is performed post-treatment to evaluate remission status, especially in radiologically residual tumors. Myofibroblastoma (MFB) is a benign mesenchymal tumor of the mammary stroma composed of fibroblasts and myofibroblasts. These entities do not often present concurrently. Case presentation: The patient was an 80-year-old man with a history of stage IV-BS Diffuse Large B-Cell Lymphoma (DLBCL) with a high-risk International Prognostic Index (IPI). The patient underwent treatment with a six-cycle R-CHOP regimen. Immediately after the last cycle, an 18F-Fluorodeoxyglucose (18F-FDG) positron emission tomography with computed tomography (PET-CT) scan revealed a nodular solid lesion with a faintly increased metabolic standardized uptake value (SUVmax) of 3 in the upper outer quadrant of his left breast. A biopsy of the breast lesion was performed, and it revealed a benign mesenchymal tumor, specifically a Myofibroblastoma. The patient has not presented any symptoms or complications since surgery (12 months) and remains in complete remission (CR). Conclusions: Given the potential diagnostic pitfalls and therapeutic implications of residual tumors in the context of DLBCL, a conscientious evaluation by a multidisciplinary team (MDT) is highly recommended.

Background/Objectives: Venous thromboembolic disease (VTE) is the most common initial manifestation of antiphospholipid syndrome (APS). Determining which patients with VTE to test for APS can be a challenging clinical decision. We aimed to determine if patients with APS present with more significant venous thromboembolic clot burden, as compared to patients with VTE without a diagnosis of APS. Methods: A multi-hospital single-institution retrospective cohort study was designed. Patients with a diagnosis of VTE who had been tested for APS from 1 December 2019 to 31 January 2022 were included. Patients were stratified based on the presence of APS (APS versus non-APS). Significant venous thromboembolic clot burden was defined as PE involving the main and/or lobar pulmonary arteries or DVT involving the iliofemoral veins. Assessment of clot burden was performed by review of radiology reports of the index clotting event. Results: We included 748 patients with a history of VTE who had been tested for APS; 75 patients (10%) were positive for APS. Significant clot burden was present in 29 (38.7%) APS patients and 269 (40.0%) non-APS patients (OR 0.95, 95% CI 0.58-1.56; p = 0.85). No predictors for significant clot burden were found on multivariable analysis. Triple-positive APS (OR 0.83, 95% CI 0.16-4.21; p = 0.82) and primary APS (OR 0.72, 95% CI 0.15-3.45; p = 0.68) were not associated with more significant clot burden. Conclusions: This retrospective single-institution analysis suggests that patients with APS may not present with more significant venous thromboembolic clot burden than patients with VTE without APS.

Background: Acquired hemophilia A (AHA) is a bleeding disorder caused by autoantibodies against coagulation factor VIII. Treatment includes controlling bleeding and eliminating the inhibitor. Emicizumab has been increasingly used to prevent bleeding in patients with AHA. Rituximab is used as a first-line immunosuppressive therapy (IST) for AHA, either in combination with corticosteroids in high-risk patients or as monotherapy in low-risk patients who cannot tolerate corticosteroids. However, evidence regarding concomitant emicizumab and rituximab as first-line treatment for AHA is limited. Case presentations: We present five cases of AHA diagnosed at a single institution. The first three high-risk AHA cases in the era before emicizumab resulted in poor outcomes due to bleeding (Cases 1 and 3) or infection (Case 2). The recent cases (Cases 4 and 5) were successfully treated with emicizumab and rituximab-containing IST without severe bleeding and infections. Since emicizumab effectively relieved pain in these patients, rehabilitation could be initiated promptly, resulting in earlier hospital discharge. Complete remission was achieved on Day 42 in Case 4 and on Day 22 in Case 5, respectively, and emicizumab was subsequently discontinued in both cases. Conclusions: Our case series suggests that early initiation of emicizumab for patients with AHA is effective in preventing severe bleeding and subsequent immobility, and it can be combined with rituximab-containing IST to achieve remission, potentially with fewer adverse effects than standard IST. Further studies are warranted to establish the optimal treatment protocol involving emicizumab and IST for AHA.

In this narrative review, we address the prevention and therapy of iron deficiency anemia (IDA) with oral iron products in pediatric patients. Fortification of complementary foods with iron-containing micronutrient powders is the preferred method for the prevention of IDA in resource-limited settings. In developed countries, the prevention of sideropenia is through the consumption of iron-rich foods of animal origin. Regarding oral iron therapy, ferrous sulfate is the most widely used and cheapest product, but it is less well tolerated due to gastrointestinal side effects compared to complexes of ferric iron with polysaccharides, and complexes of iron with amino acids in casein, such as iron protein succinylate and iron acetyl aspartylate. These latter products are expensive and available only as single-dose vials with a fixed amount of elemental iron. Intermittent administration of ferrous sulfate, once or twice a week, is equally effective to daily therapy, with fewer side effects, and can be used in selected patients. Oral carbonyl iron has excellent bioavailability and the additional advantage of a high safety margin in cases of accidental overdose compared to iron salts, an important consideration given the potentially lethal consequences of iron overdose. Newer liposomal and sucrosomial iron products appear to have better intestinal tolerance and similar efficacy in the treatment of IDA, but limited pediatric data exist. In conclusion, all oral medicinal iron products are effective when prescribed for the treatment of IDA, if well-absorbed and taken consistently for 3 to 6 months. Physicians should be prepared to use alternative oral agents with better tolerance in case of gastrointestinal side effects.

Background: Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is an indolent B-cell lymphoma with long-term survival and a tendency for late relapse. Hepatic manifestations of varying etiologies have been described in lymphoproliferative disorders. However, paraneoplastic hepatitis is rare, and reports typically describe acute presentations. We describe an unusual case of paraneoplastic hepatitis with an indolent and progressive clinical course occurring in the setting of relapsed NLPHL. Case Presentation: A 32-year-old man with a history of NLPHL was found to have marked transaminase elevation with preserved liver function during routine follow-up. Extensive evaluation excluded viral, autoimmune, and metabolic causes of liver disease. Liver biopsy demonstrated confluent and bridging necrosis with lymphoplasmacytic infiltrates, without evidence of direct lymphoma involvement. Excisional biopsy of a cervical lymph node revealed relapse of NLPHL without histologic transformation. Treatment with corticosteroids resulted in partial biochemical improvement, and subsequent rituximab monotherapy achieved lymphoma remission. Despite this, low-grade transaminase elevation persisted, and follow-up imaging and liver biopsy demonstrated progression to fibrosis, suggesting a tendency towards chronicity. Conclusions: Paraneoplastic hepatitis should be considered in patients with NLPHL who present with unexplained liver abnormalities. This report illustrates a fibrosing form of paraneoplastic hepatitis associated with NLPHL and broadens the clinical spectrum of paraneoplastic hepatic injury. Early recognition, histological confirmation, and tailored immunosuppressive management are critical to optimizing hepatic and lymphoma-related outcomes.

Background: Haemoglobinopathies are the most common monogenic disorders both in Greece and worldwide. The most effective strategies against them are carrier detection and prenatal testing following genetic risk assessment consultation for couples on the likelihood of their offspring being affected. Case Presentation: A novel alpha globin chain variant, named Hb Thessaloniki, was detected in Northern Greece. The underlying point variation HBA1:c.260T>C (ref. seq. NM_000558.5) was detected in the HBA1 gene, in heterozygosity, during a routinely performed population screening for haemoglobinopathies. The amino-acid residue Leu86 was replaced by a structure disrupting Pro residue, resulting in a hyperunstable product as shown by the isopropanol test and predicted by the Dynamut2 and Alphafold3 algorithms. The haematological phenotype, due to which genetic analysis was performed, presented with mild microcytosis and hypochromia and was also indicative of the presence of an unstable haemoglobin produced in small quantities (variant encoded by HBA1). Since the proband's partner presented with a normal haematological phenotype, there is no risk of the couple giving birth to an affected offspring. Expanded analysis of the proband's relatives identified biallelic variants (α^Parmaα/αα^{Τhessaloniki}) in the proband's mother, who presented with no apparent clinical findings, expect for slightly reduced haematological indices. Conclusions: The novel Hb Thessaloniki identified, although theoretically hyperunstable, seems to have minor effects on erythrocyte function, as indicated by haematological findings on the proband and his close relatives. Future identification of co-inheritance with HBA pathogenic point variations or deletions may provide further information regarding genetic counselling. In parallel, the usage of structure-function relation-calculating algorithms may enhance our prediction capability for novel variants.

Inherited platelet disorders (IPDs) comprise a heterogeneous group of rare conditions that present particular challenges during pregnancy, with bleeding risk increasing during labor and the immediate postpartum period. These disorders require coordinated, multidisciplinary management to mitigate maternal and neonatal bleeding risk. Although data remains limited, individuals with IPD, including Bernard-Soulier syndrome, Glanzmann thrombasthenia, MYH9-related disorders, Hermansky-Pudlak syndrome, and platelet storage pool disorders, are at an increased risk for obstetrical bleeding, with the degree of risk varying by underlying diagnosis. In severe inherited platelet disorders such as Glanzmann thrombasthenia, peripartum hemorrhage is common, with up to half of the deliveries in some series requiring red cell or platelet transfusion. Because these conditions are congenital, the fetus may also be affected, placing neonates at risk for serious bleeding complications, including intracranial hemorrhage, although available data is limited. Despite the considerable morbidity and mortality risk associated with inherited platelet disorders, management strategies during pregnancy and delivery remain poorly defined. This stands in contrast to other bleeding disorders, such as factor deficiencies, for which multiple therapeutic approaches have been evaluated in the peripartum setting. In this review, we summarize the available evidence and current management strategies for individuals with inherited platelet disorders during pregnancy and delivery.

Introduction: This review specifically focuses on interventional clinical trials in leukemias and myelodysplastic syndromes (MDS), summarizing how patient-reported outcome measures (PROMs) have been implemented to evaluate treatment effects rather than to directly influence clinical outcomes. Objective: Clinical outcomes of interest typically include response rates, disease-free survival (DFS), and overall survival (OS). Patient-reported outcome measures (PROMs) are standardized questionnaires that collect information regarding health outcomes directly from the patient and are used to evaluate new treatments and healthcare quality. In addition, the use of PROMs in cancer care has been shown to improve patient-provider communication and patient satisfaction. Material and Methods: This is a qualitative, narrative synthesis and review structured around PROMs focused on six critical themes: symptoms/symptom burden, physical, emotional, social/role, and functional status, and global health status measurement. Results: PROMs that are assessed in oncologic research include the EORTC QLQ-C30, FACT-Leu, QLQ-CLL16, and EQ-5D. PROs are associated with clinical outcomes such as DFS and OS, and the FACT-Leu scales, HRQOL and physical functioning scores were independent prognosticators of OS in patients with AML. Conclusions: Through our review, notable trends were identified that further highlight the importance of greater incorporation of PRO measures in future clinical trials, particularly in the understudied realm of hematologic malignancies, in order to better delineate the link between survival and HRQOL.

Drug-induced agranulocytosis is a rare but life-threatening adverse reaction associated with numerous non-chemotherapy drugs. Management relies on immediate drug withdrawal, infection control, and, in selected patients, administration of granulocyte-colony stimulating factor (G-CSF). This review summarizes current knowledge on the determinants of epidemiology, clinical presentation, hematologic and biologic features, comorbidities, and outcomes influencing the decision to introduce G-CSF in drug-induced agranulocytosis. Evidence from observational studies and meta-analyses suggests that G-CSF shortens neutropenia duration and hospitalization, although its impact on mortality remains uncertain. The decision to use G-CSF should consider initial neutrophil count, presence of severe infection or sepsis, age, and comorbidities. Despite the accumulated experience, randomized controlled trials are still lacking, and treatment algorithms remain empirical.