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International Journal of Laboratory... Jun 2020A small but important proportion of patients with myelodysplasia (MDS) and acute leukaemia (AL) have underlying germline mutations in leukaemia susceptibility genes. The... (Review)
Review
A small but important proportion of patients with myelodysplasia (MDS) and acute leukaemia (AL) have underlying germline mutations in leukaemia susceptibility genes. The majority of these variants predispose to myeloid neoplasms with a smaller number associated with acute lymphoblastic leukaemia (ALL). The 2016 revision of the WHO classification of tumours of haematopoietic and lymphoid tissues has defined a number of myeloid neoplasms with germline predisposition (Blood, 127, 2016, 2391) alerting clinicians to the importance of this underlying diagnosis. Advances in genetic technology and access to testing will undoubtably result in increased numbers of patients and families with leukaemia predisposition syndromes being identified. Here we summarize the salient biology and genetic and clinical features of a number of these conditions including some more recently described genetic variants.
Topics: Genetic Predisposition to Disease; Germ-Line Mutation; Hematologic Neoplasms; Humans; Myelodysplastic Syndromes; Precursor Cell Lymphoblastic Leukemia-Lymphoma
PubMed: 32115888
DOI: 10.1111/ijlh.13173 -
British Journal of Haematology Jan 2020Comprehensive cataloguing of the acute myeloid leukaemia (AML) genome has revealed a high frequency of mutations and deletions in epigenetic factors that are frequently... (Review)
Review
Comprehensive cataloguing of the acute myeloid leukaemia (AML) genome has revealed a high frequency of mutations and deletions in epigenetic factors that are frequently linked to treatment resistance and poor patient outcome. In this review, we discuss how the epigenetic mechanisms that underpin normal haematopoiesis are subverted in AML, and in particular how these processes are altered in childhood and adolescent leukaemias. We also provide a brief summary of the burgeoning field of epigenetic-based therapies, and how AML treatment might be improved through provision of better conceptual frameworks for understanding the pleiotropic molecular effects of epigenetic disruption.
Topics: Adolescent; Child; Drug Resistance, Neoplasm; Epigenesis, Genetic; Hematopoiesis; Humans; Leukemia, Myeloid, Acute; Mutation
PubMed: 31804725
DOI: 10.1111/bjh.16361 -
The FEBS Journal Aug 2022It is essential to relate the biology of acute leukaemia to normal blood cell development. In this review, we discuss how modern models of haematopoiesis might inform... (Review)
Review
It is essential to relate the biology of acute leukaemia to normal blood cell development. In this review, we discuss how modern models of haematopoiesis might inform approaches to diagnosis and management of immature leukaemias, with a specific focus on T-lymphoid and myeloid cases. In particular, we consider whether next-generation analytical tools could provide new perspectives that could improve our understanding of immature blood cancer biology.
Topics: Acute Disease; Hematopoiesis; Humans; Leukemia, Myeloid, Acute
PubMed: 34028982
DOI: 10.1111/febs.16030 -
European Review For Medical and... Oct 2017Leukemia is defined as an aberrant hyper-proliferation of immature blood cells that do not form solid tumor masses (i.e., liquid cancer). Usually, leukemia could be... (Review)
Review
Leukemia is defined as an aberrant hyper-proliferation of immature blood cells that do not form solid tumor masses (i.e., liquid cancer). Usually, leukemia could be either of the myeloid or lymphoid lineages, and is classified as acute or chronic in nature. Chronic leukemias tend to have more mature cells and are rare in pediatric patients. Acute leukemias, on the other hand, are typically less mature and commonly occur in patients of all ages and are potentially rapidly fatal if not readily treated. The acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Similar to AML, and in some cases, on the same disease spectrum, are the myelodysplastic syndromes (MDS). The present review is focused on the recent perspectives of pediatric leukemia.
Topics: Acute Disease; Chronic Disease; Humans; Leukemia; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Prognosis; Risk Factors
PubMed: 29165768
DOI: No ID Found -
Disease-a-month : DM Oct 1994The leukemias can be divided into acute and chronic varieties, both of which have a myelocytic and lymphocytic type. When untreated, the acute leukemias are associated... (Review)
Review
The leukemias can be divided into acute and chronic varieties, both of which have a myelocytic and lymphocytic type. When untreated, the acute leukemias are associated with a more rapid clinical course than are the chronic leukemias. Paradoxically, to the present time, the acute leukemias have been curable with chemotherapy, whereas the chronic leukemias have not. Until recently the treatment goal for patients with chronic leukemias has been to return the patient's life to normal for as long as possible. With recent advances, it may now be possible to cure some patients with chronic leukemia. Acute leukemias are treated with intensive chemotherapy, which is associated with severe and life-threatening side effects. Although this approach to treatment will cure some patients, the use of bone marrow transplantation has had an increasingly important role in the treatment of younger patients with these diseases.
Topics: Acute Disease; Antineoplastic Agents; Bone Marrow Transplantation; Chronic Disease; Humans; Leukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Remission Induction
PubMed: 7924833
DOI: No ID Found -
Annals of Hematology Feb 2017
Topics: Acute Disease; Female; Humans; Leukemia; Male
PubMed: 28105492
DOI: 10.1007/s00277-017-2921-1 -
Pathology Apr 2021The diagnosis of acute myeloid leukaemia and related neoplasms in adults is challenging as this requires the integration of clinical findings, morphology,... (Review)
Review
The diagnosis of acute myeloid leukaemia and related neoplasms in adults is challenging as this requires the integration of clinical findings, morphology, immunophenotype, cytogenetics, and molecular genetic findings. Lack of familiarity with rare subtypes of acute leukaemia hinders the diagnosis. In this review, we will describe diagnostic findings of several rare acute myeloid leukaemias and related neoplasms that primarily occur in adults including information on presentation, morphology, immunophenotype, genetics, differential diagnosis, and prognosis. Leukaemias discussed include blastic plasmacytoid dendritic cell neoplasm, acute myeloid leukaemia with t(6;9) (p23;q34.1); DEK-NUP214, acute myeloid leukaemia with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM, acute myeloid leukaemia with BCR-ABL1, acute leukaemias of ambiguous lineage, acute myeloid leukaemia with mutated RUNX1, pure erythroid leukaemia, acute panmyelosis with myelofibrosis, and acute basophilic leukaemia. Case studies with morphological features of the nine subtypes of acute myeloid leukaemia and related neoplasms have been included, and additional evidence available since publication of the 2016 World Health Organization Classification has been added to each subtype.
Topics: Chromosomal Proteins, Non-Histone; Cytogenetics; Fusion Proteins, bcr-abl; GATA2 Transcription Factor; Humans; Immunophenotyping; Leukemia; Leukemia, Myeloid, Acute; MDS1 and EVI1 Complex Locus Protein; Molecular Biology; Myeloproliferative Disorders; Nuclear Pore Complex Proteins; Oncogene Proteins; Poly-ADP-Ribose Binding Proteins; Prognosis
PubMed: 33676766
DOI: 10.1016/j.pathol.2021.02.001 -
Lancet (London, England) Feb 1997Ionising radiation, in high dose and with acute exposure, is a factor that has been implicated in leukaemogenesis, but what is the evidence for leukaemogenesis and... (Review)
Review
Ionising radiation, in high dose and with acute exposure, is a factor that has been implicated in leukaemogenesis, but what is the evidence for leukaemogenesis and exposure to diagnostic X-rays, to natural terrestrial or cosmic ionising radiation, to electromagnetic fields, or to nuclear energy? Why is population mixing and infection a possible explanation for the clusters of childhood acute leukaemias around the nuclear processing plants of Sellafield and Dounreay? These questions, as well as how chemical agents, including therapeutic substances, might contribute to leukaemogenesis, are discussed in this last article in the leukaemia series.
Topics: Acute Disease; Animals; Humans; Infections; Leukemia; Leukemia, Radiation-Induced; Neoplasms, Second Primary; Nuclear Warfare; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Radiation, Ionizing; Radiography
PubMed: 9024390
DOI: 10.1016/s0140-6736(96)09412-3 -
Blood Reviews Mar 1988In recent years immunophenotyping and analysis of clonal rearrangement of immunoglobulin and T-cell antigen receptor genes have proved valuable for the diagnosis and... (Review)
Review
In recent years immunophenotyping and analysis of clonal rearrangement of immunoglobulin and T-cell antigen receptor genes have proved valuable for the diagnosis and classification of leukaemia. These techniques aid in the assignment of cell lineage in cases of acute leukaemia in which the standard FAB criteria of morphology and cytochemistry do not reveal clear lymphoid or myeloid phenotype. These new techniques have also revealed that the leukaemic blasts in a sizable minority of otherwise typical cases of acute leukaemia express 'inappropriate' lineage-associated markers and have been termed mixed acute leukaemias. The spectrum of characteristics encompassed by mixed acute leukaemias ranges from fairly common cases expressing one or two inappropriate markers to the more extreme, rare cases of acute leukaemia termed 'hybrid' in which a truly scrambled picture is seen. A subgroup of these mixed cases have two distinct populations of blasts, e.g. one lymphoid and the other myeloid. These observations raise a number of issues about the cell of origin of these leukaemias and about the mechanisms controlling the developmental regulation of expression of different lineage-associated markers. In addition, accumulating evidence suggests that inappropriate expression of markers may identify sub-groups of both acute myeloid and lymphoblastic leukaemia with an inferior prognosis.
Topics: Diagnosis, Differential; Humans; Leukemia, Lymphoid; Leukemia, Myeloid, Acute; Prognosis
PubMed: 3289656
DOI: 10.1016/0268-960x(88)90003-3 -
Cancer Cell Jun 2002
Review
Topics: Acute Disease; Antineoplastic Agents; Enzyme Inhibitors; Humans; Leukemia
PubMed: 12124171
DOI: 10.1016/s1535-6108(02)00081-8