☆ 4.2 Article

Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

EUROPEAN JOURNAL OF HAEMATOLOGY (2015)

期刊

EUROPEAN JOURNAL OF HAEMATOLOGY

卷 95, 期 4, 页码 308-315

出版社

WILEY-BLACKWELL

DOI: 10.1111/ejh.12490

关键词

stem cells; Shwachman-Bodian-Diamond Syndrome (SBDS); flow cytometry; leukemia; immunophenotyping

类别

Hematology

资金

Associazione Italiana Sindrome di Shwachman-Diamond (AISS)

向作者/读者索取更多资源

Protocol

Reagent

摘要

ObjectivesShwachman-Diamond syndrome is a rare disorder characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and bone marrow failure, with high risk of leukemic evolution. The aim of the study was the immunophenotypic characterization of bone marrow cells from patients with Shwachman-Diamond syndrome to assess the maturation pathway of blood progenitor cells and to identify the presence of recurrent abnormalities. MethodsBone marrow samples from nineteen patients and eleven controls were analyzed by multiparameter flow cytometry. ResultsWe found a low frequency of CD34+ cells (P=0.0179) and myeloid progenitors (P=0.025), in the bone marrow of patients with Shwachman-Diamond syndrome as compared to the controls. A significant reduction in the percentage of granulocytes (P=0.002) and an increase of monocytes (P<0.001) were also evident in the bone marrow of patients. ConclusionsOn the basis of these observations, future prospective assessments may be useful to verify the contribution of bone marrow immunophenotype in the early identification of the evolution toward aplasia or myelodysplasia.

作者

我是这篇论文的作者

点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.2

评分不足

次要评分

新颖性

-

重要性

-

科学严谨性

-

评价这篇论文

推荐

Article Biochemistry & Molecular Biology

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS

Elena Spinetti, Pietro Delre, Michele Saviano, Dritan Siliqi, Gianluca Lattanzi, Giuseppe Felice Mangiatordi

Summary: Shwachman-Diamond Syndrome (SDS) is a rare genetic disease with no specific treatment currently available. This study used comparative molecular dynamics simulations to analyze three SBDS mutants and found that both an open and closed conformation of SBDS are necessary for its proper function, providing new insights into SDS pathogenesis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

添加到收藏夹

Article Medicine, General & Internal

Shwachman-diamond syndrome A case report

Huihan Tan, Dequan Su, Zhiqiang Zhuo

Summary: This study analyzed the genetic abnormalities and clinical manifestations of SDS, showing that elevated transaminase and restricted growth are common initial symptoms. Genetic testing is helpful for diagnosis.

MEDICINE (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Sioban Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley

Summary: Research on germline genetic leukemia predisposition in Shwachman-Diamond syndrome identified early emergence of multiple hematopoietic clones with EIF6 or TP53 mutations. The germline SBDS deficiency constrains clone selection via compensatory EIF6 inactivation and maladaptive TP53 mutations, with subsequent leukemia linked to biallelic TP53 alterations. These findings offer insights into clinical surveillance strategies.

NATURE COMMUNICATIONS (2021)

添加到收藏夹

Article Genetics & Heredity

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome

Ibrahim Taha, Selena Foroni, Roberto Valli, Annalisa Frattini, Pamela Roccia, Giovanni Porta, Marco Zecca, Elena Bergami, Marco Cipolli, Francesco Pasquali, Cesare Danesino, Claudia Scotti, Antonella Minelli

Summary: A reanalysis of available WES files of SDS patients with biallelic SBDS pathogenic variants was performed, and the results were studied using next bioinformatic and protein structural analysis. Clinical attention was given to the patient focused in this study.

FRONTIERS IN GENETICS (2022)

添加到收藏夹

Review Hematology

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances

Christopher R. Reilly, Akiko Shimamura

Summary: Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. Patients with SDS who undergo routine bone marrow surveillance and receive hematopoietic stem cell transplant (HSCT) before developing overt malignancy have improved outcomes. Recent studies have found distinct patterns of somatic blood mutations in patients with SDS, suggesting the potential for molecular surveillance to enhance the detection of incipient myeloid malignancies when HSCT may be most effective.

BLOOD (2023)

添加到收藏夹

Article Biochemistry & Molecular Biology

Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

Laura Peretto, Elena Tonetto, Iva Maestri, Valentino Bezzerri, Roberto Valli, Marco Cipolli, Mirko Pinotti, Dario Balestra

Summary: Shwachman-Diamond syndrome (SDS) is a common inherited bone marrow failure syndrome caused by SBDS gene mutations. The mutation in the SBDS c.258+2T>C variant affects splicing, but some correct transcripts can still be produced, explaining the survival of SDS patients. Correction approaches at the RNA and DNA levels, such as engineered U1snRNA, trans-splicing, and base/prime editors, can partially counteract the mutation effect and lead to correctly spliced transcripts. DNA editors, in particular, may offer a potential innovative therapy for SDS by reverting the mutation and potentially selecting bone-marrow cells.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

添加到收藏夹

Article Hematology

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Boryeong Park, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jae Sung Ko, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, Tae-Joon Cho, Nathan T. Wright, Je Kyung Seong, Suk-Won Jin, Hyoung Jin Kang, Hyeon Ho Kim, Murim Choi

Summary: This study presents three unrelated Korean SDS patients with biallelic pathogenic variants in EFL1, generated from bone marrow-specific somatic uniparental disomy in chromosome 15. These recombination events resulted in homozygosity for a relatively milder variant, which could evade catastrophic physiologic consequences but still impair 80S ribosome assembly and induce SDS features. Loss of EFL1 led to inhibition of terminal oligopyrimidine element-containing ribosomal protein transcript 80S assembly, proposing a more accurate pathogenesis mechanism of EFL1 dysfunction in SDS.

BLOOD (2021)

添加到收藏夹

Article Immunology

A case report of early diagnosis of asymptomatic hairy cell leukemia using flow cytometry

James Tadros, Amanda Davis, Oreoluwa Awoleye, Evros Vassiliou

Summary: Hairy Cell Leukemia, although infrequent, can be diagnosed early using flow cytometry even before the patient develops symptoms. A small percentage (0.9%) of leukocytes with higher side scatter and brighter CD19/CD20 than the remaining lymphocytes can indicate the presence of malignant B-cells. The diagnosis in this case was confirmed by a bone marrow aspirate three weeks later, followed by the development of splenomegaly and fatigue.

FRONTIERS IN IMMUNOLOGY (2023)

添加到收藏夹

Article Genetics & Heredity

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi, Antonella Minelli

Summary: This study investigates the clinical variability in two siblings with Shwachman-Diamond Syndrome (SDS) carrying the same SBDS mutations. Whole-exome sequencing was performed and a novel de novo variant in the KMT2A gene was found in one sibling, which is associated with Wiedemann-Steiner Syndrome. These findings suggest that other germline variants, in addition to SBDS mutation, may contribute to the clinical variability observed in SDS patients.

GENES (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

Flow Cytometry: A Blessing and a Curse

Hannah Drescher, Sabine Weiskirchen, Ralf Weiskirchen

Summary: Flow cytometry uses laser technology to rapidly analyze the size and characteristics of cells or particles, and has the potential to use a variety of fluorescent reagents. Developments in the past 30 years have expanded the ability to combine up to 50 antibodies in a single tube. However, these advances come with technical risks and interpretation issues.

BIOMEDICINES (2021)

添加到收藏夹

Article Rheumatology

Utility of lymphocyte phenotype profile to differentiate primary Sjogren's syndrome from sicca syndrome

Jose Loureiro-Amigo, Carlos Palacio-Garcia, Monica Martinez-Gallo, Fernando Martinez-Valle, Marc Ramentol-Sintas, Roser Solans-Laque

Summary: This study found that patients with pSS have imbalanced distribution of circulating T and B lymphocyte subsets. The ratio B-NSM/CD4(ACT) is useful in differentiating between pSS and sicca syndrome.

RHEUMATOLOGY (2021)

添加到收藏夹

Article Oncology

Repolarization of HSC attenuates HSCs failure in Shwachman-Diamond syndrome

Sachin Kumar, Kalpana J. Nattamai, Aishlin Hassan, Amanda Amoah, Rebekah Karns, Cuiping Zhang, Ying Liang, Akiko Shimamura, M. Carolina Florian, Ute Bissels, Martha Luevano, Andreas Bosio, Stella M. Davies, Medhanie Mulaw, Hartmut Geiger, Kasiani C. Myers

Summary: The research discovered that SDS patients have lower Cdc42 activity in their HSCs, and the extent of HSC depletion is related to the level of apolarity in HSCs. Exogenously provided Wnt5a or GDF11 can restore polarity in SDS HSCs and increase the number of HSCs.

LEUKEMIA (2021)

添加到收藏夹

Article Pediatrics

Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome

Samuele Naviglio, Antonio Giacomo Grasso, Chiara Iacono, Giada Zanella, Valentina Kiren, Nagua Giurici, Federico Verzegnassi, Natalia Maximova, Marco Rabusin

Summary: Shwachman-Diamond syndrome is a rare bone marrow failure syndrome characterized by pancreatic insufficiency, bone abnormalities, and increased risk of MDS and AML. Venetoclax has shown promise in treating AML in elderly adults, but there is limited evidence on its use in pediatric patients with SDS-related MDS or AML.

FRONTIERS IN PEDIATRICS (2023)

添加到收藏夹

Article Veterinary Sciences

Clinical outcome and prognostic factors in dogs with B-cell chronic lymphocytic leukemia: A retrospective study

Emily D. Rout, Julia D. Labadie, Janna A. Yoshimoto, Paul R. Avery, Kaitlin M. Curran, Anne C. Avery

Summary: The study aimed to assess the presentation and outcome in dogs with BCLL, evaluating the prognostic relevance of clinical and flow cytometric factors. Results indicated that Boxer dogs and cases with high Ki67 levels had more aggressive disease.

JOURNAL OF VETERINARY INTERNAL MEDICINE (2021)

添加到收藏夹

Article Immunology

Performance of spectral flow cytometry and mass cytometry for the study of innate myeloid cell populations

Kyra van der Pan, Indu Khatri, Anniek L. de Jager, Alesha Louis, Sara Kassem, Brigitta A. E. Naber, Inge F. de Laat, Marjolijn Hameetman, Suzanne E. T. Comans, Alberto Orfao, Jacques J. M. van Dongen, Paula Diez, Cristina Teodosio

Summary: Monitoring innate myeloid cells (IMC) is important in research and patient care, and both spectral flow cytometry (SFC) and mass cytometry (MC) can be used to analyze IMC populations. This study compared the performance of SFC and MC in identifying and characterizing IMC populations and found that the two technologies showed comparable results in cell population distribution and staining resolution. However, differences were observed in intra-measurement variability and reproducibility, which may be due to the longer acquisition times and lower recovery rates associated with SFC.

FRONTIERS IN IMMUNOLOGY (2023)

添加到收藏夹

Article Dermatology

Clinical features and prognostic factors of Magnusiomyces (Saprochaete) infections in haematology. A multicentre study of SEIFEM/Fungiscope

Maria Ilaria Del Principe, Danila Seidel, Marianna Criscuolo, Michelina Dargenio, Zdenek Racil, Monica Piedimonte, Francesco Marchesi, Gianpaolo Nadali, Philipp Koehler, Nicola Fracchiolla, Chiara Cattaneo, Nikolai Klimko, Angelica Spolzino, Deniz Yilmaz Karapinar, Hayati Demiraslan, Rafael F. Duarte, Judit Demeter, Marta Stanzani, Lorella Maria Antonia Melillo, Claudia Maria Basilico, Simone Cesaro, Giovangiacinto Paterno, Catello Califano, Mario Delia, Elisa Buzzatti, Alessandro Busca, Oliver A. Cornely, Livio Pagano, Nael Alakel, Valentina Arsi'c Arsenijevi'c, Vincent Camus, Iker Falces-Romero, Levy Itzhak, Michal Kouba, Rodrigo Martino, Petr Sedlacek, Barbora Weinbergerova

Summary: Our study aims to identify and provide therapeutic guidance for Magnusiomyces-associated infections, an emerging threat in patients with haematological malignancies. Neutrophil recovery appears to play a crucial role in the favorable outcome of these infections.

MYCOSES (2023)

添加到收藏夹

Article Biophysics

Risk factors for a severe disease course in children with SARS-COV-2 infection following hematopoietic cell transplantation in the pre-Omicron period: a prospective multinational Infectious Disease Working Party from the European Society for Blood and Marrow Transplantation group (EBMT) and the Spanish Group of Hematopoietic Stem Cell Transplantation (GETH) study

Dina Averbuch, Rafael de la Camara, Gloria Tridello, Nina Simone Knelange, Tatiana A. Bykova, Marianne Ifversen, Veronika Dobsinska, Mouhab Ayas, Amir Ali Hamidieh, Herbert Pichler, Antonio Perez-Martinez, Simone Cesaro, Mikael Sundin, Isabel Badell, Peter Bader, Jan-Erik Johansson, Oana Mirci-Danicar, Petr Sedlacek, Catherine Paillard, Brenda Gibson, Sarah Lawson, Nicolaus Kroeger, Selim Corbacioglu, Malgorzata Mikulska, Jose Luis Pinana, Jan Styczynski, Per Ljungman

Summary: This international study analyzed risk factors for severe SARS-Cov-2 infection in children following hematopoietic cell transplantation. The study found that although the infection is often asymptomatic, 10% of children required ICU care and 8% died. Hematopoietic cell transplantation, underlying disease, and SARS-Cov-2 related factors were associated with a severe disease course.

BONE MARROW TRANSPLANTATION (2023)

添加到收藏夹

Article Immunology

Improved outcomes over time and higher mortality in CMV seropositive allogeneic stem cell transplantation patients with COVID-19; An infectious disease working party study from the European Society for Blood and Marrow Transplantation registry

Per Ljungman, Gloria Tridello, Jose Luis Pinana, Fabio Ciceri, Henrik Sengeloev, Alexander Kulagin, Stephan Mielke, Zeynep Arzu Yegin, Matthew Collin, Sigrun Einardottir, Sophie Ducastelle Lepretre, Johan Maertens, Antonio Campos, Elisabetta Metafuni, Herbert Pichler, Frantisek Folber, Carlos Solano, Emma Nicholson, Meltem Kurt Yueksel, Kristina Carlson, Beatriz Aguado, Caroline Besley, Jenny Byrne, Immaculada Heras, Fiona Dignan, Nicolaus Kroeger, Christine Robin, Anjum Khan, Stig Lenhoff, Anna Grassi, Veronika Dobsinska, Nuno Miranda, Maria-Jose Jimenez, Ipek Yonal-Hindilerden, Keith Wilson, Dina Averbuch, Simone Cesaro, Alienor Xhaard, Nina Knelange, Jan Styczynski, Malgorzata Mikulska, Rafael de la Camara

Summary: This study reports on the incidence and mortality of COVID-19 in allogeneic hematopoietic stem cell transplant (allo-HCT) recipients. It found that patients who contracted COVID-19 within 30 days or 30-100 days after transplant and those who were older and had worse immune status were at higher risk. Despite improved outcomes, there are still risks associated with severe COVID-19 in this population.

FRONTIERS IN IMMUNOLOGY (2023)

添加到收藏夹

Article Medicine, General & Internal

Consensus Statement on Animals' Relationship with Pediatric Oncohematological Patients, on Behalf of Infectious Diseases and Nurse Working Groups of the Italian Association of Pediatric Hematology-Oncology

Giulia Fiumana, Debora Botta, Maria Francesca Dalla Porta, Simone Macchi, Elena Soncini, Antonio Santaniello, Orlando Paciello, Matteo Amicucci, Monica Cellini, Simone Cesaro

Summary: Contact with animals in pediatric oncohematologic patients has benefits but also carries the risk of zoonoses. A survey of Italian pediatric oncohematology centers found varied responses to this issue. A consensus document was drafted by infectious disease and nurse working groups, along with veterinarians, to provide unified guidelines for safe interactions between patients and animals.

JOURNAL OF CLINICAL MEDICINE (2023)

添加到收藏夹

Review Oncology

The role of androgen therapy in acquired aplastic anemia and other bone marrow failure syndromes

Momen Nassani, Riad El Fakih, Jakob Passweg, Simone Cesaro, Hazzaa Alzahrani, Ali Alahmari, Carmem Bonfim, Raheel Iftikhar, Amal Albeihany, Constantijn Halkes, Syed Osman Ahmed, Carlo Dufour, Mahmoud Aljurf

Summary: Bone marrow failure syndromes are a diverse group of diseases that can now be better classified and treated with the help of advanced diagnostic tools and sequencing techniques. Androgens, a historical group of drugs, have been used for decades to stimulate hematopoiesis and treat bone marrow failure. However, with the availability of more effective treatment options, androgens are now less commonly used. Nonetheless, they can still be considered for bone marrow failure patients who cannot receive standard therapy. This article reviews the use of androgens in bone marrow failure patients and provides recommendations for their optimal use in the current therapeutic landscape.

FRONTIERS IN ONCOLOGY (2023)

添加到收藏夹

Review Oncology

An updated portrait of monocyte-macrophages in classical Hodgkin lymphoma

Isacco Ferrarini, Andrea Bernardelli, Ester Lovato, Alberto Schena, Mauro Krampera, Carlo Visco

Summary: Classical Hodgkin lymphoma (cHL) is a unique neoplastic ecosystem with a diverse immune infiltrate, including tumor-infiltrating macrophages that play a key role in supporting malignant Hodgkin Reed-Sternberg cells. Traditional methods have yielded controversial results about the composition and function of macrophages in cHL, but more recent studies utilizing single-cell technologies have revealed the heterogeneity and spatial arrangement of macrophagic infiltrate. High-throughput analysis of peripheral blood mononuclear cells has also identified a novel subpopulation that predicts better response to PD-1 blockade. This review provides an up-to-date portrait of tumor-infiltrating macrophages and circulating monocytes in cHL, with potential translational applications.

FRONTIERS IN ONCOLOGY (2023)

添加到收藏夹

Article Hematology

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Elena Palmisani, Maurizio Miano, Alice Grossi, Marina Lanciotti, Michela Lupia, Paola Terranova, Isabella Ceccherini, Eugenia Montanari, Michaela Calvillo, Filomena Pierri, Concetta Micalizzi, Rosario Maggiore, Daniela Guardo, Sabrina Zanardi, Elena Facchini, Angela Maggio, Elena Mastrodicasa, Paola Corti, Giovanna Russo, Marta Pillon, Piero Farruggia, Simone Cesaro, Angelica Barone, Francesca Tosetti, Ugo Ramenghi, Nicoletta Crescenzio, Jack Bleesing, Carlo Dufour, Francesca Fioredda

Summary: This study compared the clinical and immunological features of ALPS-FAS/CASP10 and ALPS-U patients, and explored the genetic characteristics of the ALPS-U group. The results showed that ALPS-U patients had a more complex phenotype, involving multiple organs and higher positivity of autoimmune markers. In terms of treatment, ALPS-FAS/CASP10 patients were able to control symptoms with first- and second-line treatments, while ALPS-U patients required more treatment lines. ALPS-U appears to be a distinct entity from ALPS-FAS/CASP10, which is important for management and tailored treatments.

HEMASPHERE (2023)

添加到收藏夹

Article Biophysics

Treosulfan vs busulfan conditioning for allogeneic bmt in children with nonmalignant disease: a randomized phase 2 trial

Karl-Walter Sykora, Rita Beier, Ansgar Schulz, Simone Cesaro, Johann Greil, Jolanta Gozdzik, Petr Sedlacek, Peter Bader, Johannes Schulte, Marco Zecca, Franco Locatelli, Bernd Gruhn, Dirk Reinhardt, Jan Styczynski, Simona Piras, Franca Fagioli, Sonia Bonanomi, Maurizio Caniglia, Xieran Li, Joachim Baumgart, Jochen Kehne, Monika Mielcarek-Siedziuk, Krzysztof Kalwak

Summary: This study compared the safety and efficacy of busulfan and treosulfan in conditioning treatment for children with non-malignant diseases prior to hematopoietic stem cell transplantation. The results showed that treosulfan had a higher rate of treatment success and overall survival, but a higher rate of graft failure. Busulfan and treosulfan had similar adverse events.

BONE MARROW TRANSPLANTATION (2023)

添加到收藏夹

Article Biophysics

Prevalence, management, and new treatment modalities of EBV-DNA-emia and EBV-PTLD after allo-HCT: survey of Infectious Diseases Working Party EBMT

Jan Styczynski, Gloria Tridello, Lotus Wendel, Nina Knelange, Simone Cesaro, Lidia Gil, Per Ljungman, Malgorzata Mikulska, Dina Averbuch, Rafael de la Camara

Summary: The aim of this study was to examine the current approach to EBV-driven post-transplant complications in EBMT transplant centers. The study found that most centers conduct routine serology testing before HCT, while some also routinely test for pretransplant EBV-DNA. Monitoring for EBV infection is feasible in almost all centers, with some using standardized PCR. Regular post-HCT monitoring is performed in the majority of centers. Prophylaxis with rituximab is used in a small percentage of centers. The prevalence of csEBV-DNA-emia was 7.4%, with higher rates in children. The frequency of EBV-PTLD was 1.6%, with higher rates in children. Rituximab and reduction of immunosuppressive therapy were the first-line treatments for EBV-driven complications. The failure rate of first-line preemptive treatment was 12.0%. EBV-specific T-lymphocytes were available in a portion of centers. Experimental therapies were given to patients with resistant/refractory PTLD. Overall, the prevalence of EBV-DNA-emia and EBV-PTLD decreased in comparison to historical data.

BONE MARROW TRANSPLANTATION (2023)

添加到收藏夹

Article Hematology

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells

Marco Cipolli, Christian Boni, Marianna Penzo, Isabella Villa, Simona Bolamperti, Elena Baldisseri, Annalisa Frattini, Giovanni Porta, Martina Api, Nora Selicato, Pamela Roccia, Daniela Pollutri, Elena Marinelli Busilacchi, Antonella Poloni, Nicole Caporelli, Giovanna D'Amico, Anna Pegoraro, Simone Cesaro, Usua Oyarbide, Antonio Vella, Giuseppe Lippi, Seth J. Corey, Roberto Valli, Alessandro Polini, Valentino Bezzerri

Summary: Shwachman-Diamond syndrome (SDS) is a rare disease characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. Loss of expression of the SBDS gene in SDS leads to reduced synthesis of the SBDS protein and impaired cellular functions. Ataluren, a translational readthrough-inducing drug, has shown promise in restoring full-length SBDS protein synthesis in SDS-derived cells. In this study, the authors further investigated the functional restoration of SBDS capabilities by Ataluren, demonstrating improvements in ribosome assembly, protein synthesis, myelopoiesis, neutrophil chemotaxis, and reduction in dysplastic markers. The findings support the potential use of Ataluren in clinical trials for SDS patients with the nonsense mutation.

BRITISH JOURNAL OF HAEMATOLOGY (2023)

添加到收藏夹

Article Hematology

Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system

V. Munaretto, P. Corti, E. Bertoni, S. I. Tripodi, M. E. Guerzoni, S. Cesaro, F. Arcioni, C. Piccolo, T. Mina, M. Zecca, D. Cuzzubbo, M. Casale, G. Palazzi, L. D. Notarangelo, N. Masera, P. Samperi, S. Perrotta, G. Russo, L. Sainati, R. Colombatti

Summary: Acute chest syndrome (ACS) is a common reason for hospitalization in sickle cell disease (SCD). Despite advances in acute care, many settings lack knowledge about ACS best practices. A retrospective study in Italy showed that standardized management improved diagnostic and therapeutic pathways of ACS in children, but discrepancies were found between reference centers and general hospitals.

BRITISH JOURNAL OF HAEMATOLOGY (2023)

添加到收藏夹

Article Oncology

Predictors of Response to Hydroxyurea and Switch to Ruxolitinib in HU-Resistant Polycythaemia VERA Patients: A Real-World PV-NET Study

Francesca Palandri, Elena Rossi, Giuseppe Auteri, Massimo Breccia, Simona Paglia, Giulia Benevolo, Elena M. Elli, Francesco Cavazzini, Gianni Binotto, Alessia Tieghi, Mario Tiribelli, Florian H. Heidel, Massimiliano Bonifacio, Novella Pugliese, Giovanni Caocci, Monica Crugnola, Francesco Mendicino, Alessandra D'Addio, Simona Tomassetti, Bruno Martino, Nicola Polverelli, Sara Ceglie, Camilla Mazzoni, Rikard Mullai, Alessia Ripamonti, Bruno Garibaldi, Fabrizio Pane, Antonio Cuneo, Mauro Krampera, Gianpietro Semenzato, Roberto M. Lemoli, Nicola Vianelli, Giuseppe A. Palumbo, Alessandro Andriani, Michele Cavo, Roberto Latagliata, Valerio De Stefano

Summary: The prognostic relevance of complete response to hydroxyurea, predictors of response, and patients' triggers for switching to ruxolitinib in polycythemia vera are uncertain. Many PV patients receive underdosed hydroxyurea, leading to lower response and toxicity rates. Splenomegaly and other symptoms are the main drivers for early switch to ruxolitinib despite poor response to hydroxyurea.

CANCERS (2023)

添加到收藏夹

Article Oncology

A Prognostic Model to Predict Ruxolitinib Discontinuation and Death in Patients with Myelofibrosis

Francesca Palandri, Giuseppe A. Palumbo, Massimiliano Bonifacio, Elena M. Elli, Mario Tiribelli, Giuseppe Auteri, Malgorzata M. Trawinska, Nicola Polverelli, Giulia Benevolo, Alessia Tieghi, Fabrizio Cavalca, Giovanni Caocci, Eloise Beggiato, Gianni Binotto, Francesco Cavazzini, Maurizio Miglino, Costanza Bosi, Monica Crugnola, Monica Bocchia, Bruno Martino, Novella Pugliese, Marta Venturi, Alessandro Isidori, Daniele Cattaneo, Mauro Krampera, Fabrizio Pane, Daniela Cilloni, Gianpietro Semenzato, Roberto M. Lemoli, Antonio Cuneo, Elisabetta Abruzzese, Filippo Branzanti, Nicola Vianelli, Michele Cavo, Florian Heidel, Alessandra Iurlo, Massimo Breccia

Summary: Predictors of early discontinuation of ruxolitinib therapy and death on therapy were investigated in patients with myelofibrosis. Low platelet and hemoglobin levels, primary myelofibrosis, no spleen response at 3 months, and low starting dose of ruxolitinib were associated with a higher probability of therapy failure. A predictive model was built to identify patients at higher risk of failure with ruxolitinib monotherapy, who should consider alternative frontline strategies.

CANCERS (2023)

添加到收藏夹

Article Medicine, General & Internal

Long term use of eltrombopag in children with chronic immune thrombocytopenia: extended real life retrospective multicenter experience of the Italian Association of Pediatric Hematology and Oncology

Paola Giordano, Giuseppe Lassandro, Angelica Barone, Simone Cesaro, Ilaria Fotzi, Fiorina Giona, Chiara Gorio, Angela Maggio, Maurizio Miano, Antonio Marzollo, Margherita Nardi, Andrea Pession, Antonio Ruggiero, Giovanna Russo, Paola Saracco, Marco Spinelli, Alessandra Tolva, Assunta Tornesello, Valentina Palladino, Giovanni Carlo Del Vecchio

Summary: This multicenter retrospective study on eltrombopag administration in Italian children with chronic ITP aims to extend follow-up of previous study and found that the benefits of eltrombopag treatment, in terms of platelet count improvement and use of additional therapies, are identifiable from the first 6 months of treatment.

FRONTIERS IN MEDICINE (2023)

添加到收藏夹

Article Immunology

SARS-CoV-2 Infection in the Pediatric Oncology Population: The Definitive Comprehensive Report of the Infectious Diseases Working Group of AIEOP

Daniele Zama, Andrea Zanaroli, Agnese Corbelli, Andrea Lo Vecchio, Margherita Del Bene, Antonella Colombini, Francesca Compagno, Angelica Barone, Ilaria Fontanili, Maria Rosaria D'Amico, Maria Rosaria Papa, Maria Grazia Petris, Elisabetta Calore, Shana Montalto, Linda Meneghello, Letizia Brescia, Rosamaria Mura, Milena La Spina, Paola Muggeo, Simona Rinieri, Cristina Meazza, Katia Perruccio, Monica Cellini, Manuela Spadea, Federico Mercolini, Valeria Petroni, Raffaella De Santis, Elena Soncini, Massimo Provenzi, Nagua Giurici, Ottavio Ziino, Gloria Tridello, Simone Cesaro

Summary: This study assessed the clinical impact and outcome of SARS-CoV-2 infection on children with cancer or those who received hematopoietic stem cell transplantation. The results showed that SARS-CoV-2 infection had a mild course in the Italian pediatric oncohematology population during the pandemic, and its main consequence was the discontinuation of cancer-directed therapies.

JOURNAL OF INFECTIOUS DISEASES (2023)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.