title: Anaplastic lymphoma kinase-positive large B-cell lymphoma with complex karyotype and novel ALK gene rearrangements.
abstract: Anaplastic lymphoma kinase-positive large B-cell lymphoma is a rare non-Hodgkin lymphoma that exhibits a characteristic immunoblastic/plasmablastic morphology and is frequently associated with t(2;17)(p23;q23) and expression of Clathrin-anaplastic lymphoma kinase fusion protein. Here, we report a refractory anaplastic lymphoma kinase-positive large B-cell lymphoma in a 49-year-old human immunodeficiency virus-positive man. The neoplastic cells expressed CD138, epithelial membrane antigen, CD45, and perforin, and showed a strong granular cytoplasmic anaplastic lymphoma kinase staining pattern. Conventional chromosome analysis revealed a clone with multiple anomalies and a chromosome count of 76 to 79. Fluorescence in situ hybridization studies showed 5 copies of the ALK gene with 2 intact signals and 3 signals resulting from 2 independent, previously unreported, rearrangements. One rearrangement, seen in 2 copies, involved translocation of ALK sequences to chromosome Xq21. The second rearrangement involved translocation of ALK sequences to chromosome 12q24.1. This case broadens the cytogenetic alterations in anaplastic lymphoma kinase-positive large B-cell lymphoma, and it also demonstrates the high genetic instability of this tumor.
authors.affiliation: Department of Pathology and Department of Hospital Laboratories, UMass Memorial Medical Center and University of Massachusetts Medical School, Worcester, MA 01605, USA.
authors.forename: Min
authors.initials: M
authors.lastname: Shi
authors.forename: Patricia Minehart
authors.initials: PM
authors.lastname: Miron
authors.forename: Lloyd
authors.initials: L
authors.lastname: Hutchinson
authors.forename: Bruce A
authors.initials: BA
authors.lastname: Woda
authors.forename: Rajneesh
authors.initials: R
authors.lastname: Nath
authors.forename: Jan
authors.initials: J
authors.lastname: Cerny
authors.forename: Hongbo
authors.initials: H
authors.lastname: Yu
mesh_terms: D000077548:Anaplastic Lymphoma Kinase; D015321:Gene Rearrangement; D015658:HIV Infections / Q000150:complications; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D016403:Lymphoma, Large B-Cell, Diffuse / Q000150:complications / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism*
chemical_list: C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases