4.3 Article

Cytogenetics in the management of myeloproliferative neoplasms, mastocytosis and myelodysplastic/myeloproliferative neoplasms: Guidelines from the Group Francophone de Cytogenetique Hematologique (GFCH)

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。
Review Cell Biology

Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm

Norman Abbou et al.

Summary: BCR-ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups - polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). They are characterized by abnormal hematopoietic proliferation and an increased risk of leukemic transformation. In addition to the driver mutations JAK2, CALR, and MPL, more than twenty additional mutations have been identified through next-generation sequencing (NGS), which may be involved in pathways related to epigenetic modifications, RNA splicing, or DNA repair. This review highlights the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of PV, ET, and PMF patients.
Article Hematology

Chronic myelomonocytic leukemia: 2022 update on diagnosis, risk stratification, and management

Mrinal M. Patnaik et al.

Summary: Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder with overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Diagnosis is based on the presence of peripheral blood monocytosis and bone marrow dysplasia. Mutations and risk factors affect prognosis, and hypomethylating agents are commonly used for treatment. Allogeneic stem cell transplant is a potential curative option.

AMERICAN JOURNAL OF HEMATOLOGY (2022)

Article Hematology

Chronic Eosinophilic Leukaemia Associated with JAK2 Exon 13 Insertion/Deletion Mutations

Nicholas Lafferty et al.

Summary: Chronic eosinophilic leukaemia, not otherwise specified (CEL, NOS), is diagnosed by exclusion and requires further characterization for risk assessment and management. The insertion-deletion mutation in JAK2 is specifically associated with clonal eosinophilic disorders.

ACTA HAEMATOLOGICA (2022)

Article Oncology

Cytogenetic abnormalities in essential thrombocythemia: Clinical and molecular correlates and prognostic relevance in 809 informative cases

Naseema Gangat et al.

Summary: Cytogenetic studies among 809 patients with essential thrombocythemia revealed associations between abnormal karyotype or loss of chromosome Y and older age, higher leukocyte count, and history of arterial thrombosis. Patients with abnormal karyotype or -Y had significantly shorter survival, and SF3B1/SRSF2/U2AF1/TP53 mutations were also associated with survival.

BLOOD CANCER JOURNAL (2022)

Review Genetics & Heredity

Genetic Background of Polycythemia Vera

Mathilde Regimbeau et al.

Summary: Polycythemia vera is a myeloproliferative neoplasm characterized by alterations in the JAK2 gene and other genetic mutations. Understanding the complex genomic landscape of PV has led to the identification of potential therapeutic strategies for patients.
Article Oncology

The Cytogenetic Landscape of Pediatric Chronic Myeloid Leukemia Diagnosed in Chronic Phase

Axel Karow et al.

Summary: This study analyzed non-Philadelphia chromosome aberrations (nPhAs) in a cohort of 161 pediatric chronic myeloid leukemia (CML) patients. The study found a distinct distribution of nPhAs in this pediatric cohort, which may impact treatment response but not survival. These findings highlight the unique biology of pediatric CML and emphasize the need for international collaboration to acquire more data on the disease in this age group.

CANCERS (2022)

Review Oncology

Chronic Neutrophilic Leukemia: A Comprehensive Review of Clinical Characteristics, Genetic Landscape and Management

Thomas P. Thomopoulos et al.

Summary: Chronic neutrophilic leukemia (CNL) is a rare disease characterized by increased white blood cell counts and varied clinical presentation. The prognosis is relatively poor and current treatment options are limited.

FRONTIERS IN ONCOLOGY (2022)

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)

Review Oncology

Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia

Diletta Fontana et al.

Summary: The review provides an overview of the pathogenesis, diagnosis, prognosis, and genetics of atypical chronic myeloid leukemia, focusing on recent molecular findings and emerging targeted therapies.

FRONTIERS IN ONCOLOGY (2021)

Article Pathology

Myeloid/lymphoid neoplasms with FLT3 rearrangement

Guilin Tang et al.

Summary: Myeloid/lymphoid neoplasms with FLT3 rearrangement exhibit diverse disease presentations but share common features, including extramedullary involvement, associated eosinophilia, and multilineage involvement. Treatment options such as chemotherapy, FLT3 inhibitors, and hematopoietic stem cell transplant have shown therapeutic benefits for these patients.

MODERN PATHOLOGY (2021)

Article Multidisciplinary Sciences

Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia

Yotaro Ochi et al.

Summary: In chronic myeloid leukaemia (CML), the drivers of blast crisis and resistance to tyrosine kinase inhibitors are not fully characterised. Analysis of a cohort of CML samples using genomic technologies reveals that at least one driver alteration is associated with progression and worse prognosis. Genetic abnormalities can help predict clinical outcomes and guide clinical decisions in CML.

NATURE COMMUNICATIONS (2021)

Article Hematology

A novel activating JAK1 mutation in chronic eosinophilic leukemia

William Shomali et al.

Summary: Hypereosinophilia is classified into primary, secondary/reactive, and undetermined cause categories. Using myeloid next-generation sequencing panels can reveal new mutations in patients with undetermined causes. The novel somatic JAK1 mutation described in this study results in growth factor independence of cells and activates the JAK-STAT pathway.

BLOOD ADVANCES (2021)

Review Medicine, General & Internal

Precision Medicine in Systemic Mastocytosis

Maura Nicolosi et al.

Summary: Mastocytosis is a rare hematological neoplasm characterized by abnormal clonal mast cells, with diagnosis based on specific criteria. Over 80% of patients carry a KIT gene mutation, and treatment ranges from symptomatic drugs to kinase inhibitors targeting the mutation.

MEDICINA-LITHUANIA (2021)

Review Biochemistry & Molecular Biology

Atypical Chronic Myeloid Leukemia: Where Are We Now?

Elena Crisa et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Education, Scientific Disciplines

Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes

Mrinal M. Patnaik et al.

HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2020)

Review Medicine, General & Internal

The New ELN Recommendations for Treating CML

Rudiger Hehlmann

JOURNAL OF CLINICAL MEDICINE (2020)

Review Hematology

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

Charlotte M. Niemeyer et al.

Article Pathology

Hematopoietic neoplasms with 9p24/JAK2 rearrangement: a multicenter study

Guilin Tang et al.

MODERN PATHOLOGY (2019)

Letter Hematology

Cytogenetic findings in WHO-defined polycythaemia vera and their prognostic relevance

Daniela Barraco et al.

BRITISH JOURNAL OF HAEMATOLOGY (2018)

Article Medicine, General & Internal

Long-Term Outcomes of Imatinib Treatment for Chronic Myeloid Leukemia

Andreas Hochhaus et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Hematology

Characterization of leukemias with ETV6-ABL1 fusion

Marketa Zaliova et al.

HAEMATOLOGICA (2016)

Review Pediatrics

Diagnosis and treatment of juvenile myelomonocytic leukemia

Kazuo Sakashita et al.

PEDIATRICS INTERNATIONAL (2016)

Article Hematology

Characterization of leukemias with ETV6-ABL1 fusion

Marketa Zaliova et al.

HAEMATOLOGICA (2016)

Article Hematology

Targeted deep sequencing in primary myelofibrosis

Ayalew Tefferi et al.

BLOOD ADVANCES (2016)

Article Hematology

Targeted deep sequencing in polycythemia vera and essential thrombocythemia

Ayalew Tefferi et al.

BLOOD ADVANCES (2016)

Review Oncology

3q26/EVI1 rearrangements in myeloid hemopathies: a cytogenetic review

Marc De Braekeleer et al.

FUTURE ONCOLOGY (2015)

Article Medicine, General & Internal

Oncogenic CSF3R Mutations in Chronic Neutrophilic Leukemia and Atypical CML

Julia E. Maxson et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Hematology

Cytogenetic risk stratification in chronic myelomonocytic leukemia

Esperanza Such et al.

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)

Letter Medicine, General & Internal

A mutation conferring resistance to imatinib at the time of diagnosis of chronic myelogenous leukemia

C Roche-Lestienne et al.

NEW ENGLAND JOURNAL OF MEDICINE (2003)

Review Hematology

Cytogenetic and molecular genetic evolution of chronic myeloid leukemia

B Johansson et al.

ACTA HAEMATOLOGICA (2002)