Daniela Onofrillo

• Medical Doctor at Azienda Sanitaria Locale di Pescara

Introduction: The most common pediatric types of mature B-cell non-Hodgkin lymphomas (B-NHLs)are: Burkitt lymphoma, diffuse large B-cell lymphoma (DLBCL), primary mediastinal B-cell lymphoma (PMBCL), accounting approximately for 7% of pediatric cancers, and mature B-cell acute lymphoblastic leukemia (mB-ALL). An increased EFS and OS has been observ...

This study identifies a new chronic form of immune neutropenia in the young with or without detectable indirect anti‐neutrophil antibodies, characterized by mild/moderate neutropenia low risk of severe infection (14%), tendency to develop autoimmune phenomena over the course of the disease (cumulative incidence of 58.6% after 20 years of disease du...

Nutritional status plays a crucial role in the mortality rates of the pediatric oncology patients. However, there is a lack of systematic approaches for nutritional assessment in this population. This study aims to assess the current practice for nutritional assessment and care of pediatric cancer patients in Italy. A 25-items web-based, nation-wid...

GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evolving. Since it was first described in 2011, up to 500 patients have been reported. Here, we describe a cohort of 31 Italian patients (26 families) with molecular diagnosis of GATA2 deficiency. Patients were recruited contacting...

Background Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD. Material...

Background: The 2022 World Health Organization (WHO) classification redefines the concept of gray zone lymphoma (GZL), restricting it in practice to cases of mediastinal/thymic origin (mediastinal gray zone lymphoma, MGZL) with overlapping features between primary mediastinal B-cell lymphoma (PMBCL) and classical Hodgkin lymphoma (CHL). Cases with...

Unlabelled: Music therapy (MT) is a complementary therapy offered to children, young adults, and their families in pediatric oncology and palliative care. We performed a survey to collect information about MT in pediatric oncology in Italy. The outbreak of COVID-19 unavoidably changed the scenario of MT, suggesting some considerations presented in...

Background: Music therapy (MT) is a complementary therapy offered to children, young adults and their families in pediatric oncology and palliative care. We performed a survey to collect information about MT in pediatric oncology in Italy. The outbreak of COVID-19 unavoidably changed the scenario of MT, suggesting some considerations presented in t...

Purpose. To describe ecthyma gangrenosum (EG) characteristics and complications in a large multicenter pediatric retrospective collection of children with malignancies or bone marrow failure syndromes. Methods. EG episodes diagnosed in the period 2009-2019 were identified by a retrospective review of clinical charts at centers belonging to the Ital...

Neutropenia refers to a group of diseases characterized by a reduction in neutrophil levels below the recommended age threshold. The present study aimed to review the diagnosis and management of neutropenia, including a diagnostic toolkit and candidate underlying genes. This study also aimed to review the progress toward the definition of autoimmun...

Vaccines represent the best tool to prevent the severity course and fatal consequences of the pandemic by the new Coronavirus 2019 infection (SARS-CoV-2). Considering the limited data on vaccination of pediatric oncohematological patients, we developed a Consensus document to support the Italian pediatric hematological oncological (AIEOP) centers i...

Background: To depict ecthyma gangrenosum (EG) clinical presentation and evolution in a large multicenter pediatric retrospective collection of children with malignancies or bone marrow failure syndromes, to facilitate early diagnosis. Methods: EG episodes diagnosed in the period 2009-2019 were identified by a retrospective review of clinical ch...

Neutropenia is a generic term that indicates a reduction of neutrophils below the threshold for age and race. This condition encompasses a number of diseases with a wide range of duration and severity. In the present paper, the approach to diagnosis and treatment of neutropenia has been reviewed and implemented with the knowledge acquired during th...

NOTCH1/FBXW7 (N/F) mutational status at diagnosis is employed for T-cell lymphoblastic lymphoma (T-LBL) patients’ stratification in the international protocol LBL 2018. Our aim was to validate the prognostic role of Minimal Disseminated Disease (MDD) alone and in combination with N/F mutational status in a large retrospective series of LBL pediatri...

Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such...

Data on Stem Cell Transplantation (SCT) for Diamond-Blackfan Anemia (DBA) is limited to small numbers. We studied patients transplanted for DBA and registered in the EBMT Database. Between 1985-2016, 106 DBA patients (median age: 6.8yrs) underwent HSCT from matched-sibling (57%), unrelated (36%), or other related donors (7%), using marrow (68%), pe...

Primary autoimmune neutropenia (pAN) is typified by onset in early infancy and a mild/moderate phenotype that resolves within 3 years of diagnosis. In contrast, secondary AN is classically an adult disease associated with malignancy, autoimmunity, immunodeficiency, viral infection, or drugs. This study describes a cohort of 79 children from the Ita...

Disclosures: Bader: Riemser, Neovii: Research Funding; Medac: Patents & Royalties, Research Funding; Amgen (Brasil), Novartis: Consultancy, Speakers Bureau; Celgene: Consultancy. Risitano:Alexion: Honoraria, Research Funding, Speakers Bureau; Achillion: Research Funding; Apellis: Honoraria, Membership on an entity's Board of Directors or advisory...

Eltrombopag (ELT), an oral thrombopoietin receptor agonist, has recently emerged as a promising new drug for the treatment of aplastic anemia (AA). How ELT is used outside of clinical trials in the real-world setting and results of this treatment are not known. We conducted therefore a retrospective survey on the use of ELT in AA among EBMT member...

Objective of the study: In this study we aimed to retrospectively evaluate how centers, belonging to the Associazione Italiana Ematologia e Oncologia Pediatrica (AIEOP), manage severe acquired hypofibrinogenemia in children with acute lymphoblastic leukemia, particularly evaluating the therapeutic role of human fibrinogen concentrate (HFC) and fre...

Autoimmune neutropenia of infancy (AIN) is characterized by low risk of severe infection, tendency to spontaneously resolve and typically onset at ≤4–5 years of age; it is due to auto‐antibodies whose detection is often difficult. In case of negativity of 4 antineutrophils autoantibody tests, after having excluded ethnic, postinfection, drug induce...

Background Eltrombopag (ELT), an oral thrombopoetin-receptor agonist, has recently emerged as an encouraging and promising agent in acquired aplastic anemia. It has shown efficacy within clinical trials exploring its role in the first - line therapy in addition to standard immunosuppressive therapy as well as in the refractory setting (Townsley et...

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We describe 16 patients who were diagnosed with PNH in childhood or adolescence. The time interval between the onset of symptoms and the PNH diagnosis and its t...

The role of Bacillus cereus as an agent of infections, even serious and lethal ones, is a worrisome concern among the oncologic pediatric population. Children with underlying cancer, including blood malignancies, may develop bacteremia, in particular, sometimes complicated by brain involvement. Bacillus cereus may also be responsible for peritoniti...

The aim of this study was to investigate the methods of conception and delivery, as well as the course and outcome of 42 pregnancies occurring in 15 female patients (27 pregnancies) and partners of 8 male patients (15 pregnancies) with β-thalassemia major who were successfully treated with allogeneic hematopoietic cell transplantation (HCT). Most p...

We analysed 97 Fanconi Anemia patients from a clinic/biological database for genotype, somatic and hematologic phenotype, adverse hematological events, solid tumors and treatment. Seventy-two patients belonged to complementation group A. Eighty percent of patients presented with mild/moderate somatic phenotype and most with cytopenia. No correlatio...

Acquired aplastic anemia (AA) is a rare heterogeneous disease characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2-3/million inhabitants/year, in Europe, but higher in East Asia. Survival in severe aplastic anemia (SAA) has markedly improved in the past 2decades because of advances in hematopoietic stem cell transplantation...

Acquired Aplastic Anaemia (AA) is a rare heterogeneous disease characterized by pancytopoenia and hypoplastic bone marrow. The incidence is 2-3 millions per year (all age groups) in Europe, but is higher in East Asia. The pathogenesis of AA is complex and involves haematopoietic stem cell/progenitor cell deficiencies and autoimmune mechanism. Survi...

Invasive aspergillosis (IA) is the leading direct or contributory cause of death in patients with haematological malignancies. Early diagnosis remains difficult and often elusive due the heterogeneity of clinical presentations and the low sensitivity of both histological examination and cultures of specimens obtained from patients at risk. We repor...

The hyperviscosity syndrome classified into pleiocytosic, sclerotic and sieric syndromes according to the blood components involved are characterized by a different degree of clinical signs and symptoms related to rheological modification of blood. Therapeutic management of these syndromes is complex and the choice of apheresis treatment is general...