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What is Ataxia Telangiectasia

Chapter 8
Principles and Approaches to Diagnostic Bone Marrow Examination
A rare autosomal recessive inherited disorder due to mutations in the ATM gene. Patients develop early progressive ataxia, frequent infections, an increased risk of leukemia and lymphoma, and telangiectases in the eyes and skin.
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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