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What is Somatic Mosaicism

Chapter 8
Principles and Approaches to Diagnostic Bone Marrow Examination
The occurrence of genetically distinct cell populations within an individual as a consequence of aging. Unlike inherited mutations, it may affect only a portion of the body and are not transmitted to progeny. They are implicated in disease, most prominently cancer.
Published in Chapter:
Integrated Diagnosis of Hemopoietic Neoplasms: Principles and General Approach
Copyright: © 2024 |Pages: 32
DOI: 10.4018/978-1-6684-5818-1.ch008
Abstract
Hematopoietic neoplasms' molecular landscape and pathogenesis impact diagnosis and prognosis and ultimately guide personalized management. Genomic alterations determine the fate of the neoplastic clone and correlate with disease phenotypes. In myeloid neoplasms, mutations may drive neoplastic clones through one of the following tracks: ineffective hematopoiesis, with cytopenia and myelodysplasia; proliferation and arrested maturation in acute leukemia; failing to die, with orderly development in chronic leukemia and myeloproliferative neoplasms; or a combination of tracks with overlapping features of MDS/MPNs syndromes. Lymphoid neoplasms often correspond to specific maturation stages; of the immune system. Genetic abnormalities and hereditary disorders may predispose to hematologic neoplasms, necessitating their investigation in their diagnostic workup. Detecting clonal hematopoiesis is critical in the risk stratification of many hemopoietic neoplasms.
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