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Bone Marrow Findings in Congenital/Hereditary Conditions

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Practical Lymph Node and Bone Marrow Pathology

Part of the book series: Practical Anatomic Pathology ((PAP))

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Abstract

Congenital or hereditary conditions often affect the bone marrow hematopoiesis. Although these conditions are rare, they pose a diagnostic challenge as the manifestations of the congenital and hereditary conditions are often diverse. The clinical and family history that often triggers the suspicion for these conditions may not be obvious. And the genetic tools to assist the diagnosis are rapidly expanding. Although the congenital and hereditary conditions with bone marrow manifestations are more frequently identified in children, they can be seen in adults. These conditions can generally be grouped into those that primarily affect the hematopoietic system or those that show multi-organ manifestations including hematopoietic system. Myeloid neoplasms developed in the setting of germline mutations have been increasingly recognized and were added to the most recent update of WHO classification of hematopoietic neoplasms. Other rare congenital or hereditary conditions such as storage and metabolic disorders also affect bone marrow hematopoiesis. In this chapter, we will discuss the practical approach in the diagnosis and work-up of these cases.

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Authors and Affiliations

  1. Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Juehua Gao

  2. Hematology and Hematopathology, Department of Pathology, Ann & Robert H. Lurie Children’s Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Shunyou Gong

Authors
  1. Juehua Gao
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  2. Shunyou Gong
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Correspondence to Juehua Gao .

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Editors and Affiliations

  1. Department of Pathology, Duke University School of Medicine and Duke Health System, Durham, NC, USA

    Endi Wang

  2. Department of Pathology, Duke University School of Medicine and Duke Health System, Durham, NC, USA

    Anand Shreeram Lagoo

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Gao, J., Gong, S. (2020). Bone Marrow Findings in Congenital/Hereditary Conditions. In: Wang, E., Lagoo, A.S. (eds) Practical Lymph Node and Bone Marrow Pathology. Practical Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-32189-5_29

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  • DOI: https://doi.org/10.1007/978-3-030-32189-5_29

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-32188-8

  • Online ISBN: 978-3-030-32189-5

  • eBook Packages: MedicineMedicine (R0)

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