Genetic Testing in the Diagnosis and Biology of Acute Leukemia

Author:

Harris Marian H1,Czuchlewski David R2,Arber Daniel A3,Czader Magdalena4

Affiliation:

1. Department of Pathology, Boston Children’s Hospital, Boston, MA

2. Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque

3. Department of Pathology, University of Chicago, Chicago, IL

4. Department of Pathology and Laboratory Medicine, Indiana University, Indianapolis

Abstract

AbstractObjectivesThe 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology examined the role of molecular genetics in the diagnosis and biology of acute leukemia.MethodsAcute leukemias were reviewed in two sessions: “Genetic Testing in Diagnosis of Acute Leukemias” (53 cases) and “Genetics Revealing the Biology of Acute Leukemias” (41 cases).ResultsCases included acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemia of ambiguous lineage. Many cases demonstrated genetic alterations of known diagnostic, prognostic, and/or therapeutic significance, while others exhibited alterations that illuminated disease biology. The workshop highlighted the complexity of acute leukemia diagnosis and follow-up, while illustrating advantages and pitfalls of molecular genetic testing.ConclusionsOur understanding of the molecular genetics of acute leukemias continues to grow rapidly. Awareness of the potential complexity of genetic architecture and environment is critical and emphasizes the importance of integrating clinical information with morphologic, immunophenotypic, and molecular genetic evaluation.

Publisher

Oxford University Press (OUP)

Subject

General Medicine

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