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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 -
Seminars in Diagnostic Pathology Nov 2023The diagnostic work up and surveillance of germline disorders of bone marrow failure and predisposition to myeloid malignancy is complex and involves correlation between... (Review)
Review
The diagnostic work up and surveillance of germline disorders of bone marrow failure and predisposition to myeloid malignancy is complex and involves correlation between clinical findings, laboratory and genetic studies, and bone marrow histopathology. The rarity of these disorders and the overlap of clinical and pathologic features between primary and secondary causes of bone marrow failure, acquired aplastic anemia, and myelodysplastic syndrome may result in diagnostic uncertainty. With an emphasis on the pathologist's perspective, we review diagnostically useful features of germline disorders including Fanconi anemia, Shwachman-Diamond syndrome, telomere biology disorders, severe congenital neutropenia, GATA2 deficiency, SAMD9/SAMD9L diseases, Diamond-Blackfan anemia, and acquired aplastic anemia. We discuss the distinction between baseline morphologic and genetic findings of these disorders and features that raise concern for the development of myelodysplastic syndrome.
Topics: Humans; Anemia, Aplastic; Congenital Bone Marrow Failure Syndromes; Bone Marrow Diseases; Pathologists; Myeloproliferative Disorders; Myelodysplastic Syndromes; Bone Marrow Failure Disorders; Germ Cells; Neoplasms; Intracellular Signaling Peptides and Proteins
PubMed: 37507252
DOI: 10.1053/j.semdp.2023.06.006 -
Pediatric Blood & Cancer Mar 2021Bone marrow necrosis (BMN) is a rare pathologic finding, but when encountered is most often associated with malignancy. In adults, its presence correlates with an... (Review)
Review
Bone marrow necrosis (BMN) is a rare pathologic finding, but when encountered is most often associated with malignancy. In adults, its presence correlates with an inferior prognosis, however in children the prognostic implication is unclear. We performed a retrospective review of 3,760 bone marrow specimens in patients ≤18 years over a 10-year period. BMN was identified in less than 1% of specimens and only in patients with leukemia, lymphoma, or neuroblastoma. BMN contributed to a delay in diagnosis; however, advanced medical imaging may serve as a tool to localize nonnecrotic areas for bone marrow sampling, facilitating an expedited diagnosis.
Topics: Adolescent; Bone Marrow Diseases; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Male; Necrosis; Neoplasms; Prognosis; Retrospective Studies; Time Factors
PubMed: 33314722
DOI: 10.1002/pbc.28806 -
Best Practice & Research. Clinical... Sep 2023Magnetic resonance imaging (MRI) has emerged as a valuable tool for early detection and of axial spondyloarthritis (axSpA). A standardized imaging acquisition protocol,... (Review)
Review
Magnetic resonance imaging (MRI) has emerged as a valuable tool for early detection and of axial spondyloarthritis (axSpA). A standardized imaging acquisition protocol, aligned with the current state-of-the-art, is crucial to obtain MRI scans that meet the diagnostic quality requirements. It is important to note that certain lesions, particularly bone marrow edema (BME), can be induced by mechanical stress or be a manifestation of another non-inflammatory disorder and may mimic the characteristic findings of axSpA on MRI. Therefore, a thorough assessment of MRI lesions, considering their localization and presence of highly specific features such as erosions and backfill, becomes imperative. Additionally, the application of additional imaging modalities, when necessary, can contribute to the differentiation of axSpA from other conditions that may exhibit similar MRI findings. This review provides recommendations on how to perform MRI in daily clinical practice and how to interpret finding from the differential diagnostic point of view.
Topics: Humans; Sacroiliac Joint; Spondylarthritis; Magnetic Resonance Imaging; Bone Marrow Diseases; Axial Spondyloarthritis
PubMed: 37953121
DOI: 10.1016/j.berh.2023.101874 -
Blood Oct 2020
Topics: Aged, 80 and over; Anemia, Sideroblastic; Arteriosclerosis; Biopsy; Blood Transfusion; Blood Vessels; Bone Marrow; Deferasirox; Female; Humans; Iron; Iron Overload; Metals, Heavy; Myelodysplastic-Myeloproliferative Diseases; Thrombocytosis; Transfusion Reaction; Treatment Failure
PubMed: 33091139
DOI: 10.1182/blood.2020007779 -
The Veterinary Clinics of North... Jan 2023The traditional role of cytologic and histologic evaluation of bone marrow remains important in understanding diseases and conditions that affect this tissue. It is only... (Review)
Review
The traditional role of cytologic and histologic evaluation of bone marrow remains important in understanding diseases and conditions that affect this tissue. It is only through correlation of historical and clinical findings with hematologic, bone marrow, and other ancillary data that an accurate diagnosis can be made. Thus, the clinician is an essential link in helping establish a correct diagnosis. This article is a primer for understanding key features of bone marrow evaluation and provides practical tips for developing the best practices for optimal patient care.
Topics: Animals; Bone Marrow; Bone Marrow Examination; Bone Marrow Diseases
PubMed: 36270840
DOI: 10.1016/j.cvsm.2022.08.002 -
Best Practice & Research. Clinical... Jun 2020The term myelodysplastic/myeloproliferative neoplasm (MDS/MPN) refers to a group of clonal hematopoietic neoplasms with overlapping clinical, morphologic and genetic... (Review)
Review
The term myelodysplastic/myeloproliferative neoplasm (MDS/MPN) refers to a group of clonal hematopoietic neoplasms with overlapping clinical, morphologic and genetic myelodysplastic and myeloproliferative features observed at the time of first presentation. Impaired hematopoiesis morphologically associated with evidence of myelodysplasia manifests clinically with cytopenia/s. Simultaneously, myeloproliferation is seen within the bone marrow and leads to cytosis in the peripheral blood. The diagnostic category of MDS/MPN encompasses a heterogeneous group of diseases which share similarities among them, but at the same time have distinct clinical and pathologic features and eventually diverse prognosis; such differences justify their separation in a classification scheme. In the era of genetic and genomic tests, their distinction from conventional myelodysplastic syndromes or myeloproliferative neoplasms still relies on close clinocopathological correlation, with evaluation of both peripheral blood and bone marrow samples being essential in this sense. A multiparametric integration of clinicopathologic data and cytogenetics and molecular genetics results is the preferred diagnostic approach.
Topics: Humans; Immunophenotyping; Myelodysplastic Syndromes; Myeloproliferative Disorders
PubMed: 32460987
DOI: 10.1016/j.beha.2019.101139 -
Journal of Magnetic Resonance Imaging :... Dec 2019Technical advances in the last two decades have allowed rapid, high-resolution whole-body magnetic resonance imaging (WBMRI). MRI allows unparalleled visualization and... (Review)
Review
Technical advances in the last two decades have allowed rapid, high-resolution whole-body magnetic resonance imaging (WBMRI). MRI allows unparalleled visualization and detail in the imaging of bone marrow and surrounding soft tissues. The properties of nuclear magnetic resonance allow superb characterization of bone marrow constituents. WBMRI allows superb characterization of the different types of bone marrow and their natural evolution during the life cycle. Diffusion-weighted WBMRI is an exciting development that adds functional information to anatomical detail. The mainstay of WBMRI for bone marrow abnormalities to date has centered upon staging multiple myeloma and other hematologic bone marrow conditions, and as a valuable tool in quantifying skeletal metastases. Increasingly, WBMRI is being utilized in a variety of additional malignant and nonmalignant conditions. Due to the absence of ionizing radiation, WBMRI represents a valuable screening tool in areas such as malignant transformation in hereditary multifocal exostoses or for the development of ischemic marrow insult in at-risk patients. An additional novel area of use includes postmortem WBMRI for characterization of skeletal injuries. This article provides a state-of-the-art and current review of WBMRI of the bone marrow and highlights potential future areas of development. Level of Evidence: 5 Technical Efficacy Stage: 3 J. MAGN. RESON. IMAGING 2019. J. Magn. Reson. Imaging 2019;50:1687-1701.
Topics: Bone Marrow; Bone Marrow Diseases; Humans; Magnetic Resonance Imaging; Whole Body Imaging
PubMed: 31016800
DOI: 10.1002/jmri.26759 -
The Journal of the American Academy of... Oct 2019Bone marrow lesions of the knee in patients with osteoarthritis (OA-BML) are an important clinical entity that may explain progressive pain, decreased quality of life,... (Review)
Review
Bone marrow lesions of the knee in patients with osteoarthritis (OA-BML) are an important clinical entity that may explain progressive pain, decreased quality of life, and impaired function. MRI of OA-BMLs demonstrates a region of subchondral bone with hyperintense marrow signal on T2-weighted images. Histopathology retrieval studies have demonstrated that these lesions correlate with microdamage of the trabecular bone, and subsequently, this leads to a vicious cycle of subchondral bone attrition, attempts at repair, pain, and progressive deformity. These lesions have also been linked to accelerated loss of adjacent articular cartilage and increases in the severity of knee pain, prompting patients to seek musculoskeletal care and treatment. Multiple studies have also correlated the presence of an OA-BML with an increased probability of seeking knee arthroplasty. Knowledge of these lesions is important in the context that knee OA is both a cartilage-based and bone-based disease. Further study of OA-BMLs may provide opportunities for early intervention and OA disease-modifying treatments.
Topics: Bone Marrow Diseases; Cartilage Diseases; Humans; Magnetic Resonance Imaging; Osteoarthritis, Knee; Quality of Life; Plastic Surgery Procedures
PubMed: 30964755
DOI: 10.5435/JAAOS-D-18-00267 -
The Journal of Veterinary Medical... Jun 2020Non-neoplastic bone marrow disorders such as non-regenerative immune-mediated anemia, pure red cell aplasia, and myelodysplastic syndrome are major causes of...
Non-neoplastic bone marrow disorders such as non-regenerative immune-mediated anemia, pure red cell aplasia, and myelodysplastic syndrome are major causes of non-regenerative anemia in dogs. However, there has been no study on the clinical and clinicopathological features of canine non-neoplastic bone marrow disorders in Japan. Hence, we first investigated the breed disposition of non-neoplastic bone marrow disorders that induce anemia as a retrospective study and found that Miniature Dachshund (MD) was a predisposed breed. Based on this finding, we investigated the clinical and clinicopathological features of non-neoplastic bone marrow disorders in MDs as a preliminary retrospective study, and we compared them between immunosuppressive treatment-responsive and -resistant MDs. We found that treatment-resistant MDs showed thrombocytosis and increased frequencies of dysplastic features in the peripheral blood. These results indicate that bone marrow disorders in treatment-resistant MDs might manifest distinct features compared with those in treatment-sensitive MDs, and sensitivity to immunosuppressive treatments could be predicted based on thrombocytosis and dysplastic features in the peripheral blood. Further studies that examine aberrations in the genome are needed to elucidate the pathophysiology of bone marrow disorders in MDs.
Topics: Anemia, Hemolytic; Animals; Bone Marrow Diseases; Dog Diseases; Dogs; Female; Genetic Predisposition to Disease; Glucocorticoids; Immunosuppressive Agents; Japan; Male; Prednisolone; Retrospective Studies; Species Specificity; Treatment Outcome
PubMed: 32307340
DOI: 10.1292/jvms.19-0439