Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier

Blood Adv. 2019 Sep 10;3(17):2627-2631. doi: 10.1182/bloodadvances.2019000013.

¹ Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.
² Admera Health, LLC, South Plainfield, NJ.
³ Genetron Health Technologies Inc., Research Triangle Park, NC.
⁴ Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
⁵ Flow Cytometry Unit, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
⁶ Hematologic Malignancies/BMT Program, Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
⁷ Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.
⁸ Leukemia, Lymphoma and Myeloma Program, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC; and.
⁹ Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.

Abstract

Leukemic blasts of a female carrier of an ATRX germline mutation have persistently skewed inactivation of the X chromosome.
Germline mutation in leukemia needs to be interpreted with caution because it is not always pathologic.