4.2 Article

Germline Predisposition to Myeloid Neoplasms Diagnostic Concepts and Classifications

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Letter Oncology

Juvenile myelomonocytic leukemia; moving forward

M. Tarek Elghetany et al.

LEUKEMIA (2023)

Review Pathology

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia

Martina Rudelius et al.

Summary: The classification of hematologic neoplasia is critical for diagnosis, therapy, research, and clinical trials. This review summarizes recent advances in the classification of myeloid and lymphoblastic neoplasia with germline predisposition, providing important genetic and phenotypic information, relevant laboratory testing, and pathological bone marrow features. It also focuses on the updated classification of pediatric myelodysplastic syndrome and juvenile myelomonocytic leukemia, highlighting the genetic definitions and distinguishing features.

VIRCHOWS ARCHIV (2023)

Review Hematology

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

Christopher R. Reilly et al.

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.
Review Hematology

The spectrum of GATA2 deficiency syndrome

Katherine R. Calvo et al.

Summary: Inherited or de novo germ line heterozygous mutations in the gene encoding the transcription factor GATA2 lead to its deficiency, causing a variety of clinical manifestations such as infections, lymphedema, and myelodysplasia. The loss of a multilineage progenitor leads to cytopenias and subsequent infections. Myeloid malignancies may develop in some cases. Allogeneic hematopoietic stem cell transplantation can reverse the phenotype, but there are still unanswered questions about the disease.
Article Hematology

Hematologic complications with age in Shwachman-Diamond syndrome

Elissa Furutani et al.

Summary: The study examined 153 subjects with SDS and found that absolute neutrophil counts and hemoglobin levels increase with age, while platelet counts and marrow cellularity decrease. Marrow cellularity was not correlated with blood counts. 17% of subjects developed myeloid malignancies.

BLOOD ADVANCES (2022)

Article Biology

Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition

Juehua Gao et al.

Summary: Myeloid neoplasms with germline predisposition have been recognized as distinct entities, providing important insights into the biology and molecular mechanisms of these diseases. Understanding the regulation of genes and the impact of mutations can lead to improved disease classification and treatment.

LIFE-BASEL (2022)

Review Oncology

Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies

Serine Avagyan et al.

Summary: Pediatric myelodysplastic syndromes (MDS) may be caused by a germline predisposition, but patients may lack syndromic features. Germline predisposition can be associated with genetic mutations found in de novo MDS and leukemias, highlighting the need to distinguish their origin. Confirming a diagnosis of germline predisposition is crucial for treatment, monitoring, and family counseling. Germline predisposition can occur at any age and the risk of MDS may increase with age. Increasing awareness in adult patients can improve medical management and provide opportunities for prevention or interception of malignancy.

FRONTIERS IN ONCOLOGY (2022)

Article Hematology

The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms

Peng Li et al.

Summary: The study revealed significant differences between patients with HM carrying DDX41 CV and those with VUS, including older age, male predominance, frequent co-occurrence of somatic DDX41 variants, and lower somatic mutation burden in CV patients. These findings underscore the distinct clinical entity defined by germline DDX41 variants and emphasize the need for gene-specific diagnostic and clinical management guidelines.
Article Hematology

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data

Daniel A. Arber et al.

Summary: In 2016, the WHO, Society for Hematopathology, and European Association for Haematopathology collaborated to update the classification of myeloid neoplasms and acute leukemias, advancing the field of myeloid neoplasms and acute leukemias.
Review Oncology

The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms

Joseph D. Khoury et al.

Summary: This paper summarizes the new WHO classification scheme for myeloid and histiocytic/dendritic neoplasms, emphasizing the refinement of diagnostic criteria and the importance of actionable biomarkers, while maintaining global applicability.

LEUKEMIA (2022)

Article Hematology

Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

Eric J. Duncavage et al.

Summary: Myeloid neoplasms and acute leukemias are caused by somatic gene mutations that drive the clonal expansion of hematopoietic cells. Genomic characterization plays a crucial role in diagnosis, risk assessment, and clinical decision making. Conventional cytogenetics has been the main method for genomic testing, but recent advances in sequencing technology allow for more accurate detection of somatic mutations. Whole-genome sequencing shows potential as a replacement for traditional methods in patients with myeloid neoplasms, providing rapid and comprehensive genomic profiling.
Letter Oncology

Classification of rare pediatric myeloid neoplasia-Quo vadis?

Charlotte M. Niemeyer et al.

LEUKEMIA (2022)

Review Oncology

Unique role of DDX41, a DEAD-box type RNA helicase, in hematopoiesis and leukemogenesis

Satoru Shinriki et al.

Summary: Mutations in DDX41 play a role in myeloid leukemogenesis by affecting various cellular processes including RNA splicing, nucleic acid sensing, R-loop resolution, and snoRNA processing. The distinctive disease phenotype associated with DDX41 mutations suggests its involvement in the pathogenesis of myeloid malignancies.

FRONTIERS IN ONCOLOGY (2022)

Review Biochemistry & Molecular Biology

DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity

Alexandra Z. Andreou

Summary: DEAD-box helicases are crucial players in various stages of RNA's lifecycle, with increasing evidence showing their multitasking capabilities. DDX41, a member of this family, acts as an innate immune sensor in the cytosol and is also involved in pre-mRNA splicing in the nucleus, with implications for disease.

BIOLOGICAL CHEMISTRY (2021)

Article Hematology

Distinguishing constitutional from acquired bone marrow failure in the hematology clinic

Emma M. Groarke et al.

Summary: This review discusses the importance of distinguishing between constitutional and immune bone marrow failure, focusing on the evaluation methods for BMF and specific clinical presentations, as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Specialized testing in immune and inherited BMF, as well as genetic testing, are also examined in terms of their roles in patient evaluation and result interpretation.

BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY (2021)

Letter Hematology

A novel classification of hematologic conditions in patients with Fanconi anemia

Yvonne Lisa Behrens et al.

HAEMATOLOGICA (2021)

Review Hematology

Juvenile myelomonocytic leukemia in the molecular era: a clinician's guide to diagnosis, risk stratification, and treatment

Astrid Wintering et al.

Summary: Juvenile myelomonocytic leukemia is a complex disease with diverse clinical outcomes, ranging from spontaneous resolution to transformation to acute myeloid leukemia. Next-generation sequencing allows for more accurate molecular diagnoses, but curative treatment still relies on allogeneic hematopoietic cell transplantation for most patients. Further advances are needed to improve risk stratification algorithms for better management of the disease.

BLOOD ADVANCES (2021)

Review Biochemistry & Molecular Biology

Molecular mechanisms of telomere biology disorders

Sherilyn Grill et al.

Summary: Genetic mutations affecting telomerase function or telomere maintenance can lead to a range of diseases collectively referred to as telomeropathies, including dyskeratosis congenita. These diseases are characterized by severely shortened telomeres, often resulting in hematopoietic stem cell failure. Recent research has focused on understanding the molecular basis of these diseases, with mutations impacting telomerase activity, recruitment of telomerase to the telomere, and telomere replication defects.

JOURNAL OF BIOLOGICAL CHEMISTRY (2021)

Review Oncology

Advances in germline predisposition to acute leukaemias and myeloid neoplasms

Jeffery M. Klco et al.

Summary: This review emphasizes the different genetic pathways impacted by germline mutations leading to the development of familial and sporadic haematological malignancies, with a particular focus on recent advances in acute lymphoblastic leukaemia, acute myeloid leukaemia, and myelodysplastic syndromes.

NATURE REVIEWS CANCER (2021)

Article Biotechnology & Applied Microbiology

Companion gene mutations and their clinical significance in AML with double mutantCEBPA

Yang Zhang et al.

CANCER GENE THERAPY (2020)

Article Medicine, Research & Experimental

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Adriana A. de Jesus et al.

JOURNAL OF CLINICAL INVESTIGATION (2020)

Review Hematology

Juvenile myelomonocytic leukemia: who's the driver at the wheel?

Charlotte M. Niemeyer et al.

Article Oncology

Germline GATA2 Mutation and Bone Marrow Failure

Lisa J. McReynolds et al.

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2018)

Article Genetics & Heredity

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Education, Scientific Disciplines

JMML genomics and decisions

Charlotte M. Niemeyer

HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2018)

Article Hematology

Germline ETV6 mutations and predisposition to hematological malignancies

Simone Feurstein et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2017)

Article Pediatrics

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms

Mwe Mwe Chao et al.

KLINISCHE PADIATRIE (2017)

Article Hematology

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)

Brigitte Schlegelberger et al.

SEMINARS IN HEMATOLOGY (2017)

Article Medicine, General & Internal

Severe congenital neutropenias

Julia Skokowa et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Article Genetics & Heredity

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Dong-Hui Chen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

The acute lymphoblastic leukemia of Down Syndrome - Genetics and pathogenesis

Shai Izraeli

EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)

Review Biotechnology & Applied Microbiology

New insights into the generation and role of de novo mutations in health and disease

Rocio Acuna-Hidalgo et al.

GENOME BIOLOGY (2016)

Article Oncology

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Gaelle Bougeard et al.

JOURNAL OF CLINICAL ONCOLOGY (2015)

Article Genetics & Heredity

Germ line ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Michael Y. Zhang et al.

NATURE GENETICS (2015)

Article Education, Scientific Disciplines

Game of clones: the genomic evolution of severe congenital neutropenia

Ivo P. Touw

HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2015)

Article Hematology

Fanconi anemia and the development of leukemia

Blanche P. Alter et al.

BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY (2014)

Article Medicine, Research & Experimental

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

Dominique Bluteau et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Letter Hematology

ANKRD26-related thrombocytopenia and myeloid malignancies

Patrizia Noris et al.

Article Genetics & Heredity

The genomic landscape of hypodiploid acute lymphoblastic leukemia

Linda Holmfeldt et al.

NATURE GENETICS (2013)

Review Oncology

The role of the GATA2 transcription factor in normal and malignant hematopoiesis

Carmen Vicente et al.

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY (2012)

Review Genetics & Heredity

The telomere syndromes

Mary Armanios et al.

NATURE REVIEWS GENETICS (2012)

Article Medicine, General & Internal

Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML

Daniel C. Link et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)

Review Hematology

How I treat Diamond-Blackfan anemia

Adrianna Vlachos et al.

Review Medicine, General & Internal

Mechanisms of Disease: Telomere Diseases.

Rodrigo T. Calado et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Review Oncology

Origins of leukaemia in children with Down syndrome

JK Hitzler et al.

NATURE REVIEWS CANCER (2005)

Article Hematology

Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia

CJ Harrison et al.

BRITISH JOURNAL OF HAEMATOLOGY (2004)