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Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia.


ABSTRACT: Myeloid neoplasms and acute leukemias derive from the clonal expansion of hematopoietic cells driven by somatic gene mutations. Although assessment of morphology plays a crucial role in the diagnostic evaluation of patients with these malignancies, genomic characterization has become increasingly important for accurate diagnosis, risk assessment, and therapeutic decision making. Conventional cytogenetics, a comprehensive and unbiased method for assessing chromosomal abnormalities, has been the mainstay of genomic testing over the past several decades and remains relevant today. However, more recent advances in sequencing technology have increased our ability to detect somatic mutations through the use of targeted gene panels, whole-exome sequencing, whole-genome sequencing, and whole-trans

SUBMITTER: Duncavage EJ 

PROVIDER: S-EPMC10488320 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature