title: The human androgen receptor X-chromosome inactivation assay for clonality diagnostics of natural killer cell proliferations.
abstract: Clonality is a frequently exploited characteristic of lymphoid malignancies. However, in the natural killer (NK) cell subset of large granular lymphocyte proliferations, clonality is difficult to prove because of the lack of specific genetic markers, such as immunoglobulin or T-cell receptor gene rearrangements. The human androgen receptor (HUMARA) assay, a polymerase chain reaction-based X-chromosome inactivation assay, is a potential diagnostic tool in these disorders. Although there is much experience with X-chromosome inactivation assays in myeloid proliferations, these assays have found only very limited application in clonality assessment of NK cell proliferations. We applied the HUMARA assay in laboratory diagnostics for detection of clonality in NK cell proliferations. We describe its test performance and report three cases in which clonality of NK cell populations was investigated by use of this assay. Our results demonstrate the usefulness of the HUMARA assay in the diagnostic workup of NK cell proliferations.
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center, 3015 GE Rotterdam, The Netherlands.
authors.forename: Michaël
authors.initials: M
authors.lastname: Boudewijns
authors.forename: Jacques J M
authors.initials: JJ
authors.lastname: van Dongen
authors.forename: Anton W
authors.initials: AW
authors.lastname: Langerak
mesh_terms: D000369:Aged, 80 and over; D049109:Cell Proliferation; D002648:Child; D002999:Clone Cells; D005260:Female; D006801:Humans; D007694:Killer Cells, Natural / Q000166:cytology*; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011944:Receptors, Androgen / Q000235:genetics*; D012680:Sensitivity and Specificity; D049951:X Chromosome Inactivation
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen