title: Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations.
abstract: T-cell large granular lymphocytic leukemia (T-LGLL) is a rare indolent lymphoproliferative disorder characterized by cytopenias, splenomegaly, and various degrees of T-cell lymphocytosis, due to a clonal expansion of CD8-positive cytotoxic T-cells. Phenotypic variants of T-LGLL include CD4(+) /CD8(-) T-cells, with dual CD4(-) /CD8(-) /γδ(+) T-cells being even rarer. Cytogenetic abnormalities in T-LGLL have rarely been reported, and there is scientific debate regarding the existence of aggressive or transformed variants of T-LGLL. We report a patient with T-LGLL, γδ variant, with nearly 20-year-long duration of cytopenias before transformation to an unusual clinical scenario, manifesting with marked lymphocytosis >100 × 10(9) /L and infiltration of lymph nodes, tonsils, and subcutaneous tissue. Single-nucleotide polymorphism assays revealed acquired copy neutral loss of heterozygosity at 17q and deletion of 3p21.31, in addition to trisomy 5, monosomy X, and monosomy 21. These genetic abnormalities provided a better understanding of the molecular nature and the potentiality of disease transformation.
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
authors.forename: Ling
authors.initials: L
authors.lastname: Zhang
authors.forename: Radhakrishnan
authors.initials: R
authors.lastname: Ramchandren
authors.forename: Peter
authors.initials: P
authors.lastname: Papenhausen
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Loughran
authors.forename: Lubomir
authors.initials: L
authors.lastname: Sokol
mesh_terms: D000368:Aged; D015703:Antigens, CD / Q000235:genetics; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D002891:Chromosomes, Human, Pair 21; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome; D003937:Diagnosis, Differential; D005260:Female; D015870:Gene Expression; D006801:Humans; D007621:Karyotyping; D054066:Leukemia, Large Granular Lymphocytic / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology*; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000378:metabolism / Q000473:pathology; D019656:Loss of Heterozygosity; D009006:Monosomy; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics; D013601:T-Lymphocytes / Q000378:metabolism / Q000473:pathology*; D014314:Trisomy; D014424:Turner Syndrome
chemical_list: D015703:Antigens, CD; D016692:Receptors, Antigen, T-Cell, gamma-delta
keywords: aggressive γδ variant of T-cell large granular lymphocytic leukemia; cytogenetic abnormalities; profound lymphocytosis; single-nucleotide polymorphism