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1.
Int J Cancer ; 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38990018

RESUMO

Since the 1970s, Italian pediatric oncologists have collaborated through the Italian Association for Pediatric Hematology Oncology (AIEOP) network using a common centralized system for the registration of childhood cancer, known as Model 1.01 (Mod. 1.01). In this study, we report on recruitment trends, extra-regional migration and changes in outcome over time in the Italian population of children (0-14 years) and adolescents (15-19 years) registered and treated within the national AIEOP network in the period between 1989 and 2017. In almost 30 years, a cohort of 43,564 patients with a neoplasia diagnosis was registered in Mod. 1.01. The analysis of national extra-regional migration showed that patients tend to migrate from the South to the North and, to a lesser extent, to the Center of the country. During the study period, migration apparently decreased, especially for lymphohematopoietic diseases, whereas it remained substantial for solid tumors. Our data showed a progressive and significant increase in the cumulative survival 5 years after diagnosis since the 1990s, reaching almost 84% for all patients diagnosed in the last decade. Survival rates of Mod. 1.01 patients are similar to those provided by the main national and international reports showing childhood cancer surveillance estimates. The AIEOP Mod 1.01 has proved to be an invaluable tool from both an epidemiological and a health policy point of view, allowing us, in this study, to examine the survival experience of the largest cohort of Italian pediatric cancer patients with a very long follow-up.

2.
BMC Cancer ; 24(1): 747, 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38898388

RESUMO

BACKGROUND: The prognosis of patients with Relapsed/Refractory Osteosarcoma (R/R OS) remains dismal without an agreement on systemic therapy. The use of High-Dose Ifosfamide (14 g/sqm) with an external pump in outpatient setting (14-IFO) in R/R OS patients is limited. This study represents the first retrospective cohort analysis focused on evaluating the activity and toxicity of 14-IFO in this setting. PATIENTS AND METHODS: The study investigated 14-IFO activity, in terms of tumour response according to RECIST 1.1 criteria, as well as survival rates and toxicity, according to CTCAE v.5. RESULTS: The trial enrolled 26 patients with R/R OS. The Overall Response Rate (ORR) and Disease Control Rate (DCR) obtained was 23% and 57.5%, respectively. Patients with relapsed OS showed a higher ORR (45%) and DCR (82%) compared to refractory patients, irrespective of the number of prior treatment lines received. The achievement of disease control with 14-IFO administration enabled 27% of patients to undergo new local treatment. Four-month Progression-Free Survival (PFS) was 54% for all patients and 82% for the relapsed OS sub-group. Median Overall Survival (OSurv) was 13.7 months, with 1-year OSurv of 51% for all patients and 71% for relapsed patients. Age over 18 years and the presence of refractory disease were identified as negative prognostic factors for this patient cohort. A total of 101 cycles were evaluated for toxic assessment, demonstrating a tolerable profile without grade 3-4 non-haematological toxicities. CONCLUSIONS: 14-IFO should be considered a viable treatment option for R/R OS, particularly due to its well tolerated toxicity profile and the potential for home-administration, which can improve patient quality of life without compromising efficacy.


Assuntos
Neoplasias Ósseas , Ifosfamida , Recidiva Local de Neoplasia , Osteossarcoma , Humanos , Ifosfamida/administração & dosagem , Ifosfamida/efeitos adversos , Ifosfamida/uso terapêutico , Masculino , Feminino , Estudos Retrospectivos , Osteossarcoma/tratamento farmacológico , Osteossarcoma/mortalidade , Osteossarcoma/patologia , Adulto , Adolescente , Adulto Jovem , Neoplasias Ósseas/tratamento farmacológico , Neoplasias Ósseas/mortalidade , Neoplasias Ósseas/patologia , Recidiva Local de Neoplasia/tratamento farmacológico , Pessoa de Meia-Idade , Criança , Antineoplásicos Alquilantes/administração & dosagem , Antineoplásicos Alquilantes/uso terapêutico , Antineoplásicos Alquilantes/efeitos adversos , Gradação de Tumores , Resultado do Tratamento
3.
Palliat Support Care ; 22(3): 493-498, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38131135

RESUMO

OBJECTIVES: Pediatric healthcare professionals (HCPs) working in a palliative setting may experience challenges during their clinical practice in addressing the complex end-of-life phase of children and their families. Nurses, especially, have a frontline role in providing assistance, thereby becoming at risk of physical and psychological burden. Pediatric psychologists have an ethical responsibility to help colleagues by proposing self-care interventions that will improve their well-being and, indirectly, the work climate. This study investigated the impact of a complementary therapy, delivered by a pediatric psychologist and a nurse, on physical and psychological variables among nurses at the Paediatric Hospice of the Regina Margherita Children's Hospital in Italy. METHODS: Thirty-five nurses participated in 5 weeks of Reiki sessions for an overall total of 175 sessions. The effect of the sessions was analyzed through a paired t-test analysis comparing the values of heart rate, oxygen saturation, and systolic and diastolic pressure collected before and after each session. The same test was conducted comparing the values of the 3 burnout subscales for each of the 35 nurses collected before the beginning of the first session with those collected at the end of the last session 2 months later. RESULTS: Results underlined a positive short-term effect with a significant decrease in heart rate before and after each session (t = 11.5, p < .001) and in systolic pressure (t = 2, p < .05). In addition, a decrease in emotional exhaustion symptoms was found (t = 2.3, p < .05) at the end of the intervention. SIGNIFICANCE OF RESULTS: Reiki could be a valid strategy to complement traditional pediatric psychology clinical practice designed to protect HCPs from emotional and physical demands and to create a more supportive workplace for staff and patients alike.


Assuntos
Cuidados Paliativos , Toque Terapêutico , Humanos , Projetos Piloto , Feminino , Cuidados Paliativos/métodos , Cuidados Paliativos/normas , Cuidados Paliativos/psicologia , Masculino , Itália , Adulto , Toque Terapêutico/métodos , Toque Terapêutico/normas , Pessoal de Saúde/psicologia , Pessoal de Saúde/estatística & dados numéricos , Pessoa de Meia-Idade , Pediatria/métodos , Pediatria/normas , Esgotamento Profissional/psicologia , Esgotamento Profissional/etiologia
4.
Oncologist ; 28(10): e884-e890, 2023 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-37348061

RESUMO

BACKGROUND: Sexual function is an important concern for adolescent and young adult (AYA) with cancer. The aim of this study was to explore the attitude of Italian health care professionals who deal with AYA patients with cancer toward sexual health communication. MATERIALS AND METHODS: A 11-question survey was developed by the AIOM (Associazione Italiana di Oncologia Medica) and AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) AYA workgroup and sent to AIOM and AIEOP members. RESULTS: The sample comprised 360 respondents, 54.2% AIEOP and 45.8% AIOM members. Eighty percent were physicians, 14.5% nurses, 4.7% psychologists, and 0.8% other professionals. Medical oncologists are more used to investigate about AYA sexual health than pediatric oncologists (58.2% vs. 46.2%), even if pediatrics more frequently refer patients to specific and shared protocol (40% vs. 26.1%). Both AIOM and AIEOP participants mostly talk about sexual health only on request or occasionally (78.8% and 79%, respectively). Clinician-reported barriers to communication identified in this study are lack of preparation and embarrassment for both the categories, plus the presence/interference of parents for pediatrics and lack of time for medical oncologists. Overall, less than 5% of clinicians in our survey received specific training on potential sexual health issues in AYA patients with cancer and only 2% felt adequately prepared to speak about it. CONCLUSION: Sexual health is a key component of comprehensive care for AYA with cancer during treatments. This study highlighted the need of Italian providers for specific training and guidelines on sex-related health issues encountered by AYA patients.


Assuntos
Neoplasias , Saúde Sexual , Criança , Humanos , Adolescente , Adulto Jovem , Neoplasias/complicações , Neoplasias/terapia , Atenção à Saúde , Pessoal de Saúde , Itália , Comunicação
5.
J Pediatr Hematol Oncol ; 45(6): e683-e688, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37314864

RESUMO

PURPOSE: This study set out to evaluate the psychosocial effects of coronavirus disease 2019 (COVID-19) among adolescents with cancer, and whether these effects are significantly different among adolescents who were undergoing therapy or had completed it. MATERIALS AND METHODS: The AIEOP Adolescents Working Group and the AIEOP Psychosocial Working Group adapted a questionnaire, which was completed by 214 adolescent cancer patients ( Mage =16.3 y, range: 15 to 19 y old) treated at 16 AIEOP centers in the North (38%), South (31%), and Center (31%) of Italy. RESULTS: The results highlighted that fear of the virus is equally distributed among adolescent cancer patients, with patients being particularly concerned about their parents and families. The adolescents reported that had no difficulty in following individual safety measures: they used personal protective equipment and they were attentive to their own health and adhering to the rules imposed by doctors and the wider community. There are very few, limited differences between adolescents undergoing treatment (active group) and those who have completed treatment (follow-up group). The reminder of their own therapy experience triggered by the use of personal protective equipment, and the more common refusal to follow some restrictions were the only 2 behaviors by which the follow-up group differed significantly from the adolescents in the active group. CONCLUSIONS: Adolescents with cancer seem to have coped well with the pandemic: although they were very afraid of the virus for themselves and their families, and had to limit their social contact, they did comply with the restrictions. Their experience of cancer probably also had a positive effect in cultivating adolescents who are more responsible and resilient in emergency situations such as the pandemic.


Assuntos
COVID-19 , Hematologia , Neoplasias , Criança , Humanos , Adolescente , COVID-19/epidemiologia , Pandemias , Neoplasias/terapia , Neoplasias/epidemiologia , Itália/epidemiologia
6.
Eur J Pediatr ; 182(6): 2471-2483, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36967419

RESUMO

Hematopoietic stem cell transplantation (HSCT) represents a curative option for pediatric patients affected by malignant and non-malignant disorders. Several complications may arise during the post-transplantation period, including immune-mediated disorders. Immune-mediated cytopenias (IMCs) account for up to 22% of pediatric HSCT complications, representing an important cause of morbidity and mortality post-HSCT. So far, their pathogenesis is not well-understood, and their management may be very challenging. Further, most patients are refractory to first-line treatment which is based on high-dose intravenous steroids, immunoglobulin, and the monoclonal anti-CD20 antibody - rituximab. No clear consensus has been reached for second- and third-line therapeutic options. CONCLUSION: We reviewed the epidemiology, risk factors, pathogenesis, and treatment of IMCs, aiming to offer a deeper understanding of these complications as a guide to improving the management of these fragile patients and a cue for the design of tailored clinical trials. WHAT IS KNOWN: • IMCs arising in the post-HSCT setting represent a rare but potentially life-threatening complication. Younger patients affected by non-malignant disorders are at the greatest risk of IMCs arising after HSCT. Corticosteroids, intravenous immunoglobulin, and rituximab represent the undiscussed first-line therapeutic approach. WHAT IS NEW: • This review highlitghts how children present unique risk factors for post HSCT IMCs, which are the result of the complex relationship between the immaturity of their infantile immune system and all the perturbing agents and factors which characterize the post-HSCT setting. Future efforts are warranted to establish the best option for refractory patients, for whom a standard and validated approach is not currently available. Among new agents, ibrutinib or bortezomib and fostamatinib or low-dose IL-2 could represent a good therapeutic option for patients with graft-versus-host disease and hemolytic anemia or graft-versus-host disease and thrombocytopenia, respectively.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Trombocitopenia , Humanos , Criança , Rituximab/uso terapêutico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Doença Enxerto-Hospedeiro/epidemiologia , Doença Enxerto-Hospedeiro/etiologia , Doença Enxerto-Hospedeiro/terapia , Trombocitopenia/etiologia , Fatores de Risco
7.
Br J Haematol ; 199(2): 171-172, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35929529

RESUMO

Transfusion-dependent Diamond-Blackfan anaemia (DBA) patients rapidly develop iron overload and frequently experience cardiac complications. The report by Lecornec and colleagues offers useful details on indications and the management of deferiprone, a highly efficient chelator in removing excess cardiac iron but associated with a high risk of agranulocytosis in DBA patients. Commentary on: Lecornec et al. Agranulocytosis in patients with Diamond-Blackfan anaemia (DBA) treated with deferiprone for post-transfusion iron overload: A retrospective study of the French DBA cohort. British Journal of Haematology 2022;199:285-288.


Assuntos
Agranulocitose , Anemia de Diamond-Blackfan , Sobrecarga de Ferro , Anemia de Diamond-Blackfan/complicações , Anemia de Diamond-Blackfan/terapia , Quelantes , Deferiprona/uso terapêutico , Humanos , Ferro/uso terapêutico , Sobrecarga de Ferro/complicações , Estudos Retrospectivos
8.
Pediatr Blood Cancer ; 69(9): e29769, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35592947

RESUMO

Due to the war in Ukraine, many children have been killed and those who suffer from severe diseases, such as oncological pathologies, are facing serious challenges as their treatment is interrupted. The objective of this report is to describe one of the first Italian humanitarian expeditions launched to rescue children and their families to provide them with the best possible cancer care. The Pediatric Oncology Unit of Turin has welcomed 60 Ukrainians who are patients, caregivers and siblings. This report underlines the activities that have been implemented to offer this new type of patient the best possible care.


Assuntos
Oncologia , Neoplasias , Cuidadores , Criança , Etnicidade , Humanos , Neoplasias/terapia , Ucrânia
9.
Curr Oncol Rep ; 24(7): 843-860, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35320498

RESUMO

PURPOSE OF REVIEW: The present narrative systematic review summarizes current knowledge on germline gene mutations predisposing to solid tumors in adolescents and young adults (AYAs). RECENT FINDINGS: AYAs with cancer represent a particular group of patients with specific challenging characteristics and yet unmet needs. A significant percentage of AYA patients carry pathogenic or likely pathogenic variants (PV/LPVs) in cancer predisposition genes. Nevertheless, knowledge on spectrum, frequency, and clinical implications of germline variants in AYAs with solid tumors is limited. The identification of PV/LPV in AYA is especially critical given the need for appropriate communicative strategies, risk of second primary cancers, need for personalized long-term surveillance, potential reproductive implications, and cascade testing of at-risk family members. Moreover, these gene alterations may potentially provide novel biomarkers and therapeutic targets that are lacking in AYA patients. Among young adults with early-onset phenotypes of malignancies typically presenting at later ages, the increased prevalence of germline PV/LPVs supports a role for genetic counseling and testing irrespective of tumor type.


Assuntos
Mutação em Linhagem Germinativa , Neoplasias , Adolescente , Humanos , Neoplasias/terapia , Adulto Jovem
10.
Haematologica ; 106(5): 1303-1310, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32241839

RESUMO

Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 deletions and phenotypes not common in DBA. We conducted a multi-institutional genotype-phenotype study of 45 patients with DBA associated with pathogenic RPL35A germline variants and curated the variant data on 21 additional cases from the literature. Genotype-phenotype analyses were conducted comparing patients with large deletions versus all other pathogenic variants in RPL35A. Twenty-two of the 45 cases had large deletions in RPL35A. After adjusting for multiple tests, a statistically significant association was observed between patients with a large deletion and steroid-resistant anemia, neutropenia, craniofacial abnormalities, chronic gastrointestinal problems, and intellectual disabilities (p<0.01) compared with all other pathogenic variants. Non-large deletion pathogenic variants were spread across RPL35A with no apparent hot spot and 56% of the individual family variants were observed more than once. In this, the largest known study of DBA patients with pathogenic RPL35A variants, we determined that patients with large deletions have a more severe phenotype that is clinically different from those with non-large deletion variants. Genes of interest also deleted in the 3q29 region that could be associated with some of these phenotypic features include LMLN and IQCG. Management of DBA due to large RPL35A deletions may be challenging due to complex problems and require comprehensive assessments by multiple specialists including immunologic, gastrointestinal, and developmental evaluations to provide optimal multidisciplinary care.


Assuntos
Anemia de Diamond-Blackfan , Anemia de Diamond-Blackfan/genética , Estudos de Associação Genética , Humanos , Mutação , Fenótipo , Proteínas Ribossômicas/genética
11.
J Pediatr Gastroenterol Nutr ; 72(4): 597-602, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33399328

RESUMO

OBJECTIVES: The aims of the study was to expand the pediatric experience on hepatitis-B virus (HBV) reactivation, a known complication in patients with hematologic malignancies or on immunosuppression. METHODS: Retrospective appraisal of HBV therapy/prophylaxis in immunocompromised children, studied from April 2006 to March 2020. RESULTS: Eighteen HBV-positive patients, 5 girls, median age 11.1 (4.1--17.9) years were included. Seventeen of 18 were immunosuppressed at HBV-infection diagnosis. Seventeen were at high risk of reactivation, 1 at moderate risk. Five of 18 had acute hepatitis B as first infection or reactivation, 6 had HBeAg-positive infection, 1 an HBeAg-negative infection and 6 HBsAg-negative infection. Median follow-up was 2.7 (0.7--12.5) years. No HBV-related mortality was observed. Prophylaxis had to be repeated in 1. Lamivudine was used in 6/12 viremic patients and HBV-DNA negativization obtained in 2/6 (33%). Tenofovir-DF was used in 2/12 and entecavir in 4/12: 100% attained HBV-DNA negativization. Therapy had to be switched from tenofovir-DF to entecavir in 1 patient because of renal impairment. Virological breakthroughs were observed in 1 lamivudine-treated patient, leading to a hepatitis flare; 1 patient on entecavir had a hepatitis flare at immunoreconstitution. Mortality was 33% in the HBsAg-positive group. Seven prophylactic treatments were administered to 6 patients with HBsAg-negative infection: tenofovir-DF in 2 HBV-DNA-positive, lamivudine in 5 HBV-DNA-negative, without reverse HBsAg seroconversion, morbidity or mortality. CONCLUSIONS: There is a residual risk of acute hepatitis B in immunocompromised children, mortality rate was substantial, potentially related to the delays in commencing chemotherapy caused by liver dysfunction. Tenofovir-DF or entecavir are the drugs of choice for HBV treatment in immunocompromised children.


Assuntos
Hepatite B Crônica , Hepatite B , Infecções por Herpesviridae , Antivirais/efeitos adversos , Criança , Feminino , Hepatite B/tratamento farmacológico , Hepatite B/prevenção & controle , Antígenos de Superfície da Hepatite B/uso terapêutico , Vírus da Hepatite B , Humanos , Lamivudina/farmacologia , Lamivudina/uso terapêutico , Estudos Retrospectivos , Exacerbação dos Sintomas , Ativação Viral
12.
Br J Haematol ; 190(1): 93-104, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32080838

RESUMO

Diamond-Blackfan anaemia (DBA) is a rare and heterogeneous disease characterised by hypoplastic anaemia, congenital anomalies and a predisposition for malignancies. The aim of this paper is to report the findings from the Italian DBA Registry, and to discuss the Registry's future challenges in tackling this disease. Our 20-year long work allowed the connection of 50 Italian Association of Paediatric Haematology and Oncology (AIEOP) centres and the recruitment of 283 cases. Almost all patients have been characterised at a molecular level (96%, 271/283), finding a causative mutation in 68% (184/271). We confirm the importance of determination of erythrocyte adenosine deaminase activity (eADA) and of ribosomal RNA assay in the diagnostic pipeline and characterisation of a remission state. Patients with mutations in large ribosomal subunit protein (RPL) genes had a significant correlation with the incidence of malformations, higher eADA levels and more severe outcomes, compared to patients with mutations in small ribosomal subunit protein (RPS) genes. Furthermore, as a consequence of our findings, particularly the incidence of malignancies and the high percentage of patients aged >18 years, we stress the importance of collaboration with adult clinicians to guarantee regular multi-specialist follow-up. In conclusion, this study highlights the importance of national registries to increase our understanding and improve management of this complex disease.


Assuntos
Anemia de Diamond-Blackfan/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Fatores de Tempo , Adulto Jovem
13.
Pediatr Blood Cancer ; 67(2): e28072, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31736201

RESUMO

Over the last decade, next-generation sequencing technologies have improved our ability to assess biological aspects, at genomic and transcriptomic levels, on a large scale- and have been increasingly used for the management of adult cancers. However, their efficacy and feasibility within pediatrics is still under investigation. "Omic" approaches represent an opportunity to understand the oncogenic mechanisms driving the onset and progression of bone sarcoma and improve the clinical management of young patients with bone sarcomas. This review focuses on the current genomic and transcriptomic characteristics of managing pediatric patients, affected by Ewing sarcoma and osteosarcoma.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Ósseas/patologia , Genômica/métodos , Osteossarcoma/patologia , Sarcoma de Ewing/patologia , Transcriptoma , Neoplasias Ósseas/genética , Humanos , Osteossarcoma/genética , Sarcoma de Ewing/genética
14.
Pediatr Blood Cancer ; 67(5): e28208, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32065469

RESUMO

Persistent thrombocytopenia is a common complication after allogeneic hematopoietic stem cell transplantation (HSCT). While the use of thrombopoietin receptor agonists was retrospectively investigated in adults, data in pediatric posttransplant thrombocytopenia are lacking. We evaluated the safety and efficacy of eltrombopag in nine children with platelet transfusion-dependent persistent thrombocytopenia after HSCT. Eltrombopag was started at a median of 147 days after allo-SCT and continued for a median period of 64 days, the starting dose being 50 mg per day. The therapy was well tolerated. After a median time of treatment of 36 days, eight patients (88%) reached sustained platelets count >50 000/µL.


Assuntos
Benzoatos/administração & dosagem , Transplante de Células-Tronco Hematopoéticas , Hidrazinas/administração & dosagem , Pirazóis/administração & dosagem , Trombocitopenia/tratamento farmacológico , Adolescente , Adulto , Aloenxertos , Benzoatos/efeitos adversos , Criança , Feminino , Humanos , Hidrazinas/efeitos adversos , Lactente , Masculino , Pirazóis/efeitos adversos , Trombocitopenia/etiologia
15.
Pediatr Hematol Oncol ; 37(5): 424-430, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32131663

RESUMO

Pulmonary lymphoid lesions span from benign to other forms of malignant diseases. Among these pulmonary lymphoid lesions, Nodular Lymphoid Hyperplasia (NLH) has an excellent prognosis. The surgical excision of NLH seems to be the only treatment, even if in some cases a spontaneous regression has been reported. Interestingly, these lesions may have similar clinical and radiographic presentations, making a histopathological examination vital for their differentiation. In this report we describe four cases of pediatric patients with a previous history of classical Hodgkin Lymphoma (HL) with documented or suspected NLH.


Assuntos
Doença de Hodgkin/complicações , Pneumopatias/complicações , Linfócitos/patologia , Pseudolinfoma/complicações , Adolescente , Criança , Feminino , Humanos , Hiperplasia , Pulmão/diagnóstico por imagem , Pulmão/patologia , Pneumopatias/diagnóstico , Masculino , Prognóstico , Pseudolinfoma/diagnóstico , Remissão Espontânea , Tomografia Computadorizada por Raios X
16.
J Hum Genet ; 64(11): 1083-1090, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31501477

RESUMO

Primary familial brain calcification (PFBC) is a rare disease characterized by brain calcifications that mainly affect the basal ganglia, thalamus, and cerebellum. Among the four autosomal-dominant genes known to be associated with the disease, SLC20A2 pathogenic variants are the most common, accounting for up to 40% of PFBC dominant cases; variants include both point mutations, small insertions/deletions and intragenic deletions. Over the last 7 years, we have collected a group of 50 clinically diagnosed PFBC patients, who were screened for single nucleotide changes and small insertions/deletions in SLC20A2 by Sanger sequencing. We found seven pathogenic/likely pathogenic variants: four were previously described by our group, and three are reported here (c.303delG, c.21delG, and c.1795-1G>A). We developed and validated a synthetic Multiplex Ligation-dependent Probe Amplification (MLPA) assay for SLC20A2 deletions, covering all ten coding exons and the 5' UTR (SLC20A2-MLPA). Using this method, we screened a group of 43 PFBC-patients negative for point mutations and small insertions/deletions, and identified two novel intragenic deletions encompassing exon 6 NC_000008.10:g.(42297172_42302163)_(423022281_42317413)del, and exons 7-11 including the 3'UTR NC_000008.10:g.(?_42275320)_(42297172_42302163)del. Overall, SLC20A2 deletions may be highly underestimated PFBC cases, and we suggest MLPA should be included in the routine molecular test for PFBC diagnosis.


Assuntos
Encefalopatias/genética , Calcinose/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Adulto , Encéfalo/fisiopatologia , Encefalopatias/fisiopatologia , Calcinose/fisiopatologia , Éxons/genética , Humanos , Masculino , Linhagem , Mutação Puntual/genética , Polimorfismo de Nucleotídeo Único/genética , Deleção de Sequência/genética
17.
Br J Haematol ; 180(5): 680-693, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29359790

RESUMO

Relapse remains the leading cause of treatment failure in children with acute lymphoblastic leukaemia (ALL) undergoing allogeneic haematopoietic stem cell transplantation (HSCT). We retrospectively investigated the prognostic role of minimal residual disease (MRD) before and after HSCT in 119 children transplanted in complete remission (CR). MRD was measured by polymerase chain reaction in bone marrow samples collected pre-HSCT and during the first and third trimesters after HSCT (post-HSCT1 and post-HSCT3). The overall event-free survival (EFS) was 50%. The cumulative incidence of relapse and non-relapse mortality was 41% and 9%. Any degree of detectable pre-HSCT MRD was associated with poor outcome: EFS was 39% and 18% in patients with MRD positivity <1 × 10-3 and ≥1 × 10-3 , respectively, versus 73% in MRD-negative patients (P < 0·001). This effect was maintained in different disease remissions, but low-level MRD had a very strong negative impact only in patients transplanted in second or further CR. Also, MRD after HSCT enabled patients to be stratified, with increasing MRD between post-HSCT1 and post-HSCT3 clearly defining cohorts with a different outcome. MRD is an important prognostic factor both before and after transplantation. Given that MRD persistence after HSCT is associated with dismal outcome, these patients could benefit from early discontinuation of immunosuppression, or pre-emptive immuno-therapy.


Assuntos
Transplante de Células-Tronco Hematopoéticas/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Lactente , Masculino , Recidiva Local de Neoplasia/etiologia , Neoplasia Residual , Reação em Cadeia da Polimerase , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Análise de Sobrevida , Transplante Homólogo , Resultado do Tratamento
18.
Pediatr Blood Cancer ; 65(2)2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29090525

RESUMO

Here, we report a patient with Niemann-Pick disease type B, with early severe onset of disease and pulmonary involvement, treated with hematopoietic stem cell transplant (HSCT) from a bone marrow matched unrelated donor. We confirm that HSCT is feasible and potentially beneficial for patients with severe phenotype. Noteworthy, we discussed the potential usefulness of the activity of peripheral chitotriosidase for the longitudinal evaluation of HSCT success and effectiveness.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Hexosaminidases/sangue , Doença de Niemann-Pick Tipo B/sangue , Doença de Niemann-Pick Tipo B/terapia , Doadores não Relacionados , Aloenxertos , Pré-Escolar , Feminino , Humanos
19.
Pediatr Blood Cancer ; 65(5): e26958, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29316150

RESUMO

Social media are powerful means of communication that can also have an important role in the healthcare sector. They are sometimes seen with diffidence in the healthcare setting, partly because they risk blurring professional boundaries. This issue is particularly relevant to relations between caregivers and adolescent patients. The Italian Pediatric Hematology and Oncology Association created a multidisciplinary working group to develop some shared recommendations on this issue. After reviewing the literature, the working group prepared a consensus statement in an effort to suggest an analytical approach rather than restrictive rules.


Assuntos
Atenção à Saúde/normas , Pessoal de Saúde , Hematologia , Oncologia , Neoplasias/prevenção & controle , Mídias Sociais/normas , Criança , Consenso , Humanos
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