☆ 4.6 Letter

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations

BRITISH JOURNAL OF HAEMATOLOGY (2019)

期刊

BRITISH JOURNAL OF HAEMATOLOGY

卷 185, 期 3, 页码 627-630

出版社

WILEY

DOI: 10.1111/bjh.15594

关键词

Shwachman-Diamond syndrome; whole exome sequencing; computational biology; single nucleotide polymorphisms; bone marrow diseases

类别

Hematology

资金

AISS (Associazione Italiana Sindrome di Shwachman)
Italian Ministry of Education, University and Research (MIUR)

向作者/读者索取更多资源

Protocol

Reagent

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

4.6

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 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

Article Obstetrics & Gynecology

Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage

Xiyao Wang, Wenqiang Shi, Shaotong Zhao, Deshun Gong, Shuo Li, Cuiping Hu, Zi-Jiang Chen, Yan Li, Junhao Yan

Summary: This study utilized whole exome sequencing (WES) followed by trio bioinformatics analysis to identify genetic variants in six candidate genes that may be responsible for first trimester euploid miscarriage.

HUMAN REPRODUCTION (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 Oncology

Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma

Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom

Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.

CANCERS (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 Neurosciences

Genetic Factors in Rasmussen's Encephalitis Characterized by Whole-Exome Sequencing

Junhong Ai, Yisong Wang, Dong Liu, Dongying Fan, Qiqi Wang, Tianfu Li, Guoming Luan, Peigang Wang, Jing An

Summary: Rasmussen's encephalitis (RE) is a rare chronic neurological disorder characterized by unihemispheric brain atrophy and epileptic seizures. This study identified genetic factors for the first time in RE, suggesting that patients have congenital abnormalities in adaptive immunity and are susceptible to harmful factors.

FRONTIERS IN NEUROSCIENCE (2021)

添加到收藏夹

Article Genetics & Heredity

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy

Seyed Mohammad Kazem Aghamir, Hassan Roudgari, Hassan Heidari, Mohammad Salimi Asl, Yousef Jafari Abarghan, Venous Soleimani, Rahil Mashhadi, Fatemeh Khatami

Summary: This study evaluated exon loci variants in kidney transplant recipients using high-resolution Next Generation Sequencing. The results identified nine pathogenic variants in rejecting patients and 86 SNPs in successful transplant patients. These variants play important roles in short-term graft survival.

GENES (2023)

添加到收藏夹

Article Medicine, Research & Experimental

Whole-exome sequencing reveals genetic variations in humans with differential sensitivity to sevoflurane: A prospective observational study

Yiyong Wei, Donghang Zhang, Yunxia Zuo

Summary: This study is the first prospective observational study to investigate the genetic variations associated with the differential sensitivity to sevoflurane in humans using whole-exome sequencing and genome-wide association study.

BIOMEDICINE & PHARMACOTHERAPY (2022)

添加到收藏夹

Article Medicine, General & Internal

Genetic Aspects of Small for Gestational Age Infants Using Targeted-Exome Sequencing and Whole-Exome Sequencing: A Single Center Study

Su-Jung Park, Narae Lee, Seong-Hee Jeong, Mun-Hui Jeong, Shin-Yun Byun, Kyung-Hee Park

Summary: The prevalence of genetic causes in SGA infants without known risk factors was 22%, and targeted-panel sequencing or whole-exome sequencing was effective in diagnosing the etiology of SGA infants without a known cause.

JOURNAL OF CLINICAL MEDICINE (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

Summary: Intelectual disability (ID) and autism spectrum disorder (ASD) are often associated and characterized by impairments in cognitive processes and daily life tasks. Molecular diagnosis is crucial for improving prognosis and initiating treatment.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

添加到收藏夹

Article Rheumatology

Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study

Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh D. Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson

Summary: This study suggests that rare variants in the DCBLD2 gene may play a role in the development of RP. These findings should be further validated in a larger sample and supported by functional experiments.

ANNALS OF THE RHEUMATIC DISEASES (2023)

添加到收藏夹

Article Plant Sciences

Highly Efficient and Comprehensive Identification of Ethyl Methanesulfonate-Induced Mutations in Nicotiana tabacum L. by Whole-Genome and Whole-Exome Sequencing

Hisashi Udagawa, Hiroyuki Ichida, Takanori Takeuchi, Tomoko Abe, Yoshimitsu Takakura

Summary: In this study, a whole-exome sequencing (WES) procedure was developed in tobacco to characterize EMS-induced mutations in a test population, revealing a high number of single nucleotide variants. The amount of mutations detected by WES was 93.5% of those detected by whole-genome sequencing, while requiring significantly less sequencing data, making it a cost-effective tool for high-throughput mutation identification in tobacco.

FRONTIERS IN PLANT SCIENCE (2021)

添加到收藏夹

Article Genetics & Heredity

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer

G. Vigneshwaran, Qurratulain Annie Hasan, Rahul Kumar, Avinash Eranki

Summary: This study constructed a framework to identify genes associated with triple-negative breast cancer (TNBC) and screen the single nucleotide polymorphisms (SNPs) reported in these genes. The study found the association of genes such as BRCA1, BRCA2, EGFR, PIK3CA, PTEN, and TP53 with TNBC. The framework was demonstrated to have high accuracy in identifying pathogenic alterations in breast cancer samples.

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 Medicine, Research & Experimental

Whole-exome sequencing identifies an RS1 variant in a Chinese family with X-linked retinoschisis

Doudou Chen, Siquan Zhu

Summary: This study identified a pathogenic gene mutation for XLRS in a three-generation Chinese family using WES. A recurrent RS1 mutation was found to cause XLRS in this family, leading to premature termination of translation of the RS1 protein.

EXPERIMENTAL AND THERAPEUTIC MEDICINE (2021)

添加到收藏夹

Article Oncology

Invasive fungal diseases impact on outcome of childhood ALL - an analysis of the international trial AIEOP-BFM ALL 2009

Thomas Lehrnbecher, Andreas H. Groll, Simone Cesaro, Julia Alten, Andishe Attarbaschi, Draga Barbaric, Nicole Bodmer, Valentino Conter, Shai Izraeli, Georg Mann, Anja Moricke, Felix Niggli, Martin Schrappe, Jan Stary, Ester Zapotocka, Martin Zimmermann, Sarah Elitzur

Summary: This study identified older children with acute lymphoblastic leukemia and those with insufficient treatment response at high risk for invasive fungal disease. It also found that invasive fungal disease is an independent risk factor for event-free and overall survival, suggesting that targeted antifungal prophylaxis may benefit these patients.

LEUKEMIA (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 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

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 Medicine, General & Internal

Phase 3 Trial of Concizumab in Hemophilia with Inhibitors

Tadashi Matsushita, Amy Shapiro, Aby Abraham, Pantep Angchaisuksiri, Giancarlo Castaman, Katarina Cepo, Roseline d'Oiron, Melissa Frei-Jones, Ai-Sim Goh, Jesper Haaning, Sanja Hald Jacobsen, Johnny Mahlangu, Mary Mathias, Keiji Nogami, Josephine Skovgaard Rasmussen, Oleksandra Stasyshyn, Huyen Tran, Kateryna Vilchevska, Laura Villarreal Martinez, Jerzy Windyga, Chur Woo You, Nadezhda Zozulya, Bulent Zulfikar, Victor Jimenez-Yuste

Summary: Concizumab prophylaxis reduces the annualized bleeding rate in patients with hemophilia A or B with inhibitors, and the plasma concentrations of Concizumab remain stable over time.

NEW ENGLAND JOURNAL OF MEDICINE (2023)

添加到收藏夹

Review Immunology

Adenovirus infection in allogeneic hematopoietic cell transplantation

Simone Cesaro

Summary: Adenovirus (AdV) infection is common after allogeneic hematopoietic cell transplantation, especially in pediatric patients. Early diagnosis and prevention of viral replication is crucial. Cidofovir is currently the only recommended antiviral drug, but it has limited efficacy and nephrotoxicity. Enhancing virus-specific T-cell immunity may be a promising intervention.

TRANSPLANT INFECTIOUS DISEASE (2023)

添加到收藏夹

Article Genetics & Heredity

Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization

Alberto L'Abbate, Vittoria Moretti, Ester Pungolino, Giovanni Micheloni, Roberto Valli, Annalisa Frattini, Matteo Barcella, Francesco Acquati, Rolland A. Reinbold, Lucy Costantino, Fulvio Ferrara, Alessandra Trojani, Mario Ventura, Giovanni Porta, Roberto Cairoli

Summary: Chronic myeloid leukemia (CML) is a rare myeloproliferative disorder caused by the reciprocal translocation t(9;22)(q34;q11) leading to the formation of a Philadelphia chromosome (Ph) and the presence of the BCR-ABL1 fusion gene. The study found that interspersed LINE elements, particularly L1M subfamily, were significantly present in the breakpoint cluster regions of chromosome 22 and 9, suggesting their potential role in driving the t(9;22) translocation and subsequent development of CML.

GENES (2023)

添加到收藏夹

Review Biochemistry & Molecular Biology

The Potential Role of the T2 Ribonucleases in TME-Based Cancer Therapy

Paola Campomenosi, Lorenzo Mortara, Barbara Bassani, Roberto Valli, Giovanni Porta, Antonino Bruno, Francesco Acquati

Summary: In recent years, there has been a growing interest in developing innovative anticancer therapies targeting the tumor microenvironment (TME). Extensive research over the past two decades has revealed a consistent anticancer activity for several members of the T2 ribonuclease family, found in evolutionarily distant species. These ribonucleases have multi-tasking properties that can counteract cancer cell growth at multiple levels, affecting crucial processes in TME-induced tumor growth.

BIOMEDICINES (2023)

添加到收藏夹

Review Hematology

Endemic or regionally limited parasitic and fungal infections in haematopoietic stem-cell transplantation recipients: a Worldwide Network for Blood and Marrow Transplantation (WBMT) Review

Ibrahim N. Muhsen, Sebastian Galeano, Dietger Niederwieser, Mickey B. C. Koh, Per Ljungman, Clarisse M. Machado, Mohamed A. Kharfan-Dabaja, Rafael de la Camara, Yoshihisa Kodera, Jeff Szer, Walid Rasheed, Simone Cesaro, Shahrukh K. Hashmi, Adriana Seber, Yoshiko Atsuta, Mostafa F. Mohammed Saleh, Alok Srivastava, Jan Styczynski, Abdulrahman Alrajhi, Reem Almaghrabi, Muhammad Bilal Abid, Roy F. Chemaly, Usama Gergis, Eolia Brissot, Riad El Fakih, Marcie Riches, Malgorzata Mikulska, Nina Worel, Daniel Weisdorf, Hildegard Greinix, Catherine Cordonnier, Mahmoud Aljurf

Summary: This study aims to provide guidance to transplantation centers worldwide regarding prevention, diagnosis, and treatment of endemic and regionally limited fungal and parasitic infections in recipients of haematopoietic stem-cell transplantation. The recommendations were created and reviewed by physicians with expertise in HSCT or infectious disease. The study reviews the literature on several neglected tropical diseases including visceral leishmaniasis, Chagas disease, strongyloidiasis, malaria, schistosomiasis, histoplasmosis, blastomycosis, and coccidioidomycosis.

LANCET HAEMATOLOGY (2023)

添加到收藏夹

Review Hematology

Endemic or regionally limited bacterial and viral infections in haematopoietic stem-cell transplantation recipients: a Worldwide Network for Blood and Marrow Transplantation (WBMT) Review

Ibrahim N. Muhsen, Sebastian Galeano, Dietger Niederwieser, Mickey B. C. Koh, Per Ljungman, Clarisse M. Machado, Mohamed A. Kharfan-Dabaja, Rafael de la Camara, Yoshihisa Kodera, Jeff Szer, Walid Rasheed, Simone Cesaro, Shahrukh K. Hashmi, Adriana Seber, Yoshiko Atsuta, Mostafa F. Mohammed Saleh, Alok Srivastava, Jan Styczynski, Abdulrahman Alrajhi, Reem Almaghrabi, Muhammad Bilal Abid, Roy F. Chemaly, Usama Gergis, Eolia Brissot, Riad El Fakih, Marcie Riches, Malgorzata Mikulska, Nina Worel, Daniel Weisdorf, Hildegard Greinix, Catherine Cordonnier, Mahmoud Aljurf

Summary: This article is part one of two papers published by the Worldwide Network for Blood and Marrow Transplantation (WBMT), aiming to provide guidance on infection prevention and treatment, and considerations for transplantation. The paper summarizes data and provides recommendations on several endemic and regionally limited viral and bacterial infections.

LANCET HAEMATOLOGY (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

Review Genetics & Heredity

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review

Giovanni Micheloni, Annalisa Frattini, Marta Donini, Stefano Dusi, Anna Leszl, Annamaria Di Meglio, Martina Pigazzi, Antonio Musio, Marco Zecca, Tommaso Mina, Marco Rabusin, Pamela Roccia, Paolo Bernasconi, Irene Dambruoso, Antonella Minelli, Giuseppe Montalbano, Francesco Acquati, Giovanni Porta, Roberto Valli, Francesco Pasquali

Summary: This study reports a rare case of a patient with chronic granulomatous disease (CGD) who developed acute myeloid leukemia (AML) after hematopoietic stem cell transplantation (HSCT). The AML clone derived from the donor cells showed consistent chromosomal rearrangement and acquired additional anomalies during the ten years of follow-up. The study highlights the uncommon cytogenetic course of AML in this patient.

GENES (2023)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.