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Haematological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Aims of therapy: Prevention of death from bone marrow failure by supportive therapy is the primary aim.Aim for induction of complete remission, defined as non-detectability of leukaemic blasts plus return of normal cell counts. Increasingly, clinicians are able to detect minimal residual disease (MRD) by molecular or immunological methods. Patients who are MRD-negative after induction chemotherapy have a much better prognosis than those who are MRD-positive.Consolidation of cytotoxic therapy, which may include further cycles of chemotherapy or, in high-risk patients, allogeneic stem cell transplantation, offers the best chance of cure.
SRP72-Associated Bone Marrow Failure Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Bone marrow failure refers to a suboptimal functioning or malfunctioning in the bone marrow that causes decreased production of one or more major hematopoietic lineages, leading to diminished or absent hematopoietic precursors in the bone marrow, and mature blood cells in peripheral blood, which manifests clinically as aplastic anemia and myelodysplasia along with other extra-marrow features (commonly called bone marrow failure syndrome [BMFS]) [6].
High-Dose Immune Suppression without Hematopoietic Stem Cells for Autoimmune Diseases
Published in Richard K. Burt, Alberto M. Marmont, Stem Cell Therapy for Autoimmune Disease, 2019
Aplastic anemia is a potentially fatal bone marrow failure disorder that manifests as pancytopenia in conjuction with a hypocellular bone marrow. The disease is classified as moderate, severe and very severe. Severe aplastic anemia (SAA) is defined as bone marrow cellularity of less than 25% and markedly decreased values of at least two of three hematopoietic lineages (neutrophil count <0.5 × 109/L, platelet count <20 × 109/L and absolute reticulocyte count of <60,000). Very severe aplastic anemia satisfies the above criteria except the neutrophil count is <0.2 × 109, while moderate aplastic anemia is characterized by a hypocellular bone marrow but with cytopenias that do not meet the criteria for severe disease. The 2 year mortality rate with supportive care alone of patients with severe or very severe aplastic is roughly 80%,1 necessitating prompt therapeutic intervention. In contrast, moderate aplastic anemia is seldom life-threatening and in many instances requires no therapy.
Autoimmune disorders associated with common variable immunodeficiency: prediction, diagnosis, and treatment
Published in Expert Review of Clinical Immunology, 2022
Niloufar Yazdanpanah, Nima Rezaei
The main factor in the diagnosis of autoimmune cytopenia is persistent abnormal complete blood count (CBC) results in laboratory testing. Furthermore, evaluation of peripheral blood smear (PBS) is helpful. In cases of evident abnormality in more than one lineage, bone marrow biopsy is recommended to exclude malignancy and bone marrow failure. Laboratory markers of hemolysis and Coombs test are useful for diagnosis. Detection of antibodies against the blood components such as anti-platelet and anti-neutrophil antibodies are not acceptable by most of the clinicians to make the diagnosis upon; a negative test for these antibodies does not exclude the diagnosis. As the underlying mechanism in most cases with autoimmune cytopenia is based on immune-mediated destruction and/or sequestration, the patient’s bone marrow reserves would be normal and it would be probable to observe an arrest in late stages of maturation process.
The biology and management of dyskeratosis congenita and related disorders of telomeres
Published in Expert Review of Hematology, 2022
Hemanth Tummala, Amanda Walne, Inderjeet Dokal
Telomeres are complex structures that are essential for chromosome/genomic integrity as they prevent chromosome ends from being recognized as DNA breaks. They are composed of long TTTAGG repeats and the associated proteins of the shelterin complex. In 1999 Mitchell et al. first reported the association between shortened telomere lengths in X-linked DC [61]. Following this, it was recognized that patients with other genetic subtypes also have short telomeres compared to age-matched controls [62]. These observations have led to DC being now regarded as principally a disorder of defective telomere maintenance (Figure 6). A model for the pathophysiology of DC is given in Figure 7. Germline variants (primary defect) in key components (telomerase, shelterin, etc.) important in telomere maintenance result in excessive telomere attrition. This, together with environmental factors (such as smoking) and the overall genetic constitution of the individual, lead to premature cell death and chromosome instability. With increasing age this combination of interactions reduces/exhausts stem cell reserve and results in clinical abnormalities such as bone marrow failure and predisposition to cancer.
Olaparib and rucaparib for the treatment of DNA repair-deficient metastatic castration-resistant prostate cancer
Published in Expert Opinion on Pharmacotherapy, 2021
Benjamin L. Maughan, Emmanuel S. Antonarakis
Finally, a class effect of PARP inhibitors is the potential to induce or accelerate the development of cytopenias with the theoretical risk of bone marrow failure syndromes, such as myelodysplastic disease or acute myeloid leukemia. Thus, careful hematological monitoring of patients receiving PARP inhibitors, especially those on long-term treatment, is required. As reported in the PROfound trial, the frequency of these events is low, significantly less than 3%. Due to the rarity of bone marrow failure syndromes, defining the exact risk to patients is difficult and longer follow up might further clarify this risk. It is theoretically possible that a longer duration of treatment with PARPi might increase this risk. MDS and/or AML have not yet been reported in any patient in any of the previously described prostate cancer trials. However, these medications are used in other cancers where these adverse events have been reported [18].