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Journal of Magnetic Resonance Imaging :... Feb 2018Bone marrow is one of the largest organs in the human body, enclosing adipocytes, hematopoietic stem cells, which are responsible for blood cell production, and... (Review)
Review
UNLABELLED
Bone marrow is one of the largest organs in the human body, enclosing adipocytes, hematopoietic stem cells, which are responsible for blood cell production, and mesenchymal stem cells, which are responsible for the production of adipocytes and bone cells. Magnetic resonance imaging (MRI) is the ideal imaging modality to monitor bone marrow changes in healthy and pathological states, thanks to its inherent rich soft-tissue contrast. Quantitative bone marrow MRI and magnetic resonance spectroscopy (MRS) techniques have been also developed in order to quantify changes in bone marrow water-fat composition, cellularity and perfusion in different pathologies, and to assist in understanding the role of bone marrow in the pathophysiology of systemic diseases (e.g. osteoporosis). The present review summarizes a large selection of studies published until March 2017 in proton-based quantitative MRI and MRS of bone marrow. Some basic knowledge about bone marrow anatomy and physiology is first reviewed. The most important technical aspects of quantitative MR methods measuring bone marrow water-fat composition, fatty acid composition, perfusion, and diffusion are then described. Finally, previous MR studies are reviewed on the application of quantitative MR techniques in both healthy aging and diseased bone marrow affected by osteoporosis, fractures, metabolic diseases, multiple myeloma, and bone metastases.
LEVEL OF EVIDENCE
3 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2018;47:332-353.
Topics: Bone Marrow; Bone Marrow Diseases; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy
PubMed: 28570033
DOI: 10.1002/jmri.25769 -
International Journal of Molecular... May 2016Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral... (Review)
Review
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA) and significantly increased risks for MDS and/or acute myeloid leukemia (AML) in the setting of bone marrow failure. However, additional families with multiple cases of MDS or AML have long been reported in the medical literature with little known regarding potential hereditary etiologies. Over the last decade, genomic investigation of such families has revealed multiple genes conferring inherited risks for MDS and/or AML as the primary malignancy, including RUNX1, ANKRD26, DDX41, ETV6, GATA2, and SRP72. As these syndromes are increasingly appreciated in even apparently de novo presentations of MDS, it is important for hematologists/oncologists to become familiar with these newly-described syndromes. Herein, we provide a review of familial MDS syndromes and practical aspects of management in patients with predisposition syndromes.
Topics: Anemia, Aplastic; Bone Marrow Diseases; Bone Marrow Failure Disorders; Core Binding Factor Alpha 2 Subunit; DEAD-box RNA Helicases; Female; GATA2 Transcription Factor; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Hemoglobinuria, Paroxysmal; Heredity; Humans; Intercellular Signaling Peptides and Proteins; Leukemia, Myeloid, Acute; Male; Myelodysplastic Syndromes; Nuclear Proteins; Proto-Oncogene Proteins c-ets; Repressor Proteins; Signal Recognition Particle; ETS Translocation Variant 6 Protein
PubMed: 27248996
DOI: 10.3390/ijms17060838 -
Seminars in Hematology Jul 2022Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by insufficient blood cell production and increased risk of... (Review)
Review
Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by insufficient blood cell production and increased risk of transformation to myeloid malignancies. While genetically diverse, IBMFS are collectively defined by a cell-intrinsic hematopoietic stem cell (HSC) fitness defect that impairs HSC self-renewal and hematopoietic differentiation. In IBMFS, HSCs frequently acquire mutations that improve cell fitness, a phenomenon known as somatic compensation. Somatic compensation can occur via distinct genetic processes such as loss of the germline mutation or somatic alterations in pathways affected by the disease-causing gene. While the clinical implications of somatic compensation in IBMFS remain to be fully discovered, understanding these mutational processes can help understand disease pathophysiology and may inform future diagnostic and therapeutic approaches. In this review, we highlight current understanding about somatic compensation in IBMFS.
Topics: Anemia, Aplastic; Bone Marrow Diseases; Bone Marrow Failure Disorders; Congenital Bone Marrow Failure Syndromes; Hemoglobinuria, Paroxysmal; Humans
PubMed: 36115694
DOI: 10.1053/j.seminhematol.2022.07.002 -
Arthritis & Rheumatology (Hoboken, N.J.) Sep 2022
Topics: Bone Marrow; Bone Marrow Diseases; Edema; Humans; Sacroiliac Joint
PubMed: 35436388
DOI: 10.1002/art.42143 -
Hematology. American Society of... Dec 2017Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure,... (Review)
Review
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications that develop as the patients with these syndromes age, as well as additional late effects following hematopoietic stem cell transplantation. The most common complications are iron overload in transfused patients and syndrome-specific malignancies in untransplanted patients, which may occur earlier and with higher risks in those who have received transplants.
Topics: Allografts; Bone Marrow Diseases; Genetic Diseases, Inborn; Hematopoietic Stem Cell Transplantation; Humans; Syndrome
PubMed: 29222241
DOI: 10.1182/asheducation-2017.1.88 -
Blood Nov 2017Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure,... (Review)
Review
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications that develop as the patients with these syndromes age, as well as additional late effects following hematopoietic stem cell transplantation. The most common complications are iron overload in transfused patients and syndrome-specific malignancies in untransplanted patients, which may occur earlier and with higher risks in those who have received transplants.
Topics: Anemia, Aplastic; Bone Marrow Diseases; Bone Marrow Failure Disorders; Hematopoietic Stem Cell Transplantation; Hemoglobinuria, Paroxysmal; Humans; Inheritance Patterns
PubMed: 29167174
DOI: 10.1182/blood-2017-05-781799 -
Blood Oct 2014
Topics: Animals; Bone Marrow; Bone Marrow Diseases; DNA Repair; Humans; Mutation; Ribosomes; Syndrome
PubMed: 25237202
DOI: 10.1182/blood-2014-08-587394 -
Best Practice & Research. Clinical... Jun 2021Inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of diseases caused by pathogenic germline variants in key pathways associated with... (Review)
Review
Inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of diseases caused by pathogenic germline variants in key pathways associated with haematopoiesis and genomic stability. Germline variants in IBMFS-related genes are known to reduce the fitness of hematopoietic stem and progenitor cells (HSPC), which has been hypothesized to drive clonal selection in these diseases. In many IBMFS, somatic mosaicism predominantly impacts cells by two distinct mechanisms, with contrasting effects. An acquired variation can improve cell fitness towards baseline levels, providing rescue of a deleterious phenotype. Alternatively, somatic mosaicism may result in a fitness advantage that results in malignant transformation. This review will describe these phenomena in IBMFS and delineate their relevance for diagnosis and clinical management. In addition, we will discuss which samples and methods can be used for detection of mosaicism according to clinical phenotype, type of mosaicism, and sample availability.
Topics: Bone Marrow Diseases; Cell Transformation, Neoplastic; Congenital Bone Marrow Failure Syndromes; Hematopoiesis; Hematopoietic Stem Cells; Humans; Mosaicism
PubMed: 34404533
DOI: 10.1016/j.beha.2021.101279 -
Best Practice & Research. Clinical... Jun 2021Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune... (Review)
Review
Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune aplastic anemia, the commonest BMF, is a diagnosis of exclusion. In this review, we discuss a general approach to the evaluation of BMF, focusing on clinical presentations particular to immune and various constitutional disorders as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Additionally, we examine the role of specialized testing in both immune and inherited BMF, and discuss genetic testing, both its role in patient evaluation and interpretation of results.
Topics: Anemia, Aplastic; Bone Marrow; Bone Marrow Diseases; Bone Marrow Failure Disorders; Genetic Testing; Hematology; Humans
PubMed: 34404527
DOI: 10.1016/j.beha.2021.101275 -
Medicina (Kaunas, Lithuania) Oct 2021Bone marrow edema (BME) is defined as an area of low signal intensity on T1-weighted (T1W) MRI images and associated with intermediate or high signal intensity findings... (Review)
Review
Bone marrow edema (BME) is defined as an area of low signal intensity on T1-weighted (T1W) MRI images and associated with intermediate or high signal intensity findings on T2-weighted (T2W) MRI images. BME represents a typical imaging finding that characterizes common stress-related bone injuries of professional and amateur athletes. The etiology of stress-related injuries is influenced by numerous factors, including the initiation of a new sports activity or changes in an existing training protocol. The clinical significance of BME remains unclear. However, a correlation between the imaging pattern of BME, the clinical history of the patient and the type of sports activity practiced is essential for correct diagnosis and adequate therapeutic treatment. It is also important to clarify whether there is a specific threshold beyond which exercise can adversely affect the bone remodeling process, as the clinical picture may degenerate into the presence of BME, pain and, in the most severe cases, bone loss. In our review, we summarize the current knowledge on the etiopathogenesis and treatment options for BME and highlight the main aspects that make it difficult to formulate a correct diagnosis and establish an adequate therapeutic treatment.
Topics: Athletes; Bone Marrow; Bone Marrow Diseases; Edema; Humans; Magnetic Resonance Imaging
PubMed: 34833361
DOI: 10.3390/medicina57111143