Genetic Testing in the Diagnosis and Biology of Myeloid Neoplasms (Excluding Acute Leukemias)

Author:

Hasserjian Robert P1,Kelley Todd W2,Weinberg Olga K3,Morgan Elizabeth A4,Fend Falko56

Affiliation:

1. Department of Pathology, Massachusetts General Hospital, Boston

2. Navican Genomics, Salt Lake City, UT

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

4. Department of Pathology, Brigham and Women’s Hospital, Boston, MA

5. Department of Pathology and Neuropathology

6. Comprehensive Cancer Care, University of Tübingen, Tübingen, Germany

Abstract

AbstractObjectivesThe 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology reviewed the role of genetic testing in the diagnosis of hematopoietic neoplasms, including non–acute leukemia myeloid malignancies.MethodsThe workshop panel assigned 98 submitted cases to the category of non–acute leukemia myeloid neoplasms, of which 13 were selected for oral presentation.ResultsData from both conventional karyotyping and genetic sequencing had important impact on diagnosis, classification, and prognostication. However, some cases had genetic results that appeared discordant from the morphology and/or clinical features. Thus, the workshop underscored the need for careful management of genetic data by the pathologist and clinician, in the context of other findings.ConclusionsThe workshop cases highlighted the significance of genetic aberrations in the diagnosis and treatment of non–acute leukemia myeloid neoplasms. Many genetic data have already been incorporated in the most recent World Health Organization classification, and undoubtedly they will factor increasingly in future classifications.

Publisher

Oxford University Press (OUP)

Subject

General Medicine

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