title: Amplification of IGH/CCND1 fusion gene in a primary plasma cell leukemia case.
abstract: The IGH/CCND1 fusion gene has been reported in many hematologic tumors such as mantle cell lymphoma, chronic lymphocytic leukemia, prolymphocytic leukemia, multiple myeloma, and plasma cell leukemia. We report a case of plasma cell leukemia showing five IGH/CCND1 fusion signals by interphase fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis and multicolor spectral karyotyping showed a complex karyotype that did not include t(11;14). Metaphase FISH studies revealed three IGH/CCND1 fusion signals, two of which were amplified signals. These findings indicate that IGH/CCND1 fusion gene was amplified and interspersed in several chromosomes. The patient was treated with intensive chemotherapy. However, the clinical course was very aggressive. The amplification of the IGH/CCND1 fusion gene may contribute to the aggressive course of the disease. To our knowledge, this is the first case showing amplification of the IGH/CCND1 gene in plasma cell neoplasms.
authors.affiliation: Department of Clinical Laboratory, Tokyo Medical and Dental University Hospital, 1-5-45 Yushima Bunkyo-ku, Tokyo, Japan. ishigaki.mlab@tmd.ac.jp
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Ishigaki
authors.forename: Kouji
authors.initials: K
authors.lastname: Sasaki
authors.forename: Ken
authors.initials: K
authors.lastname: Watanabe
authors.forename: Norihiko
authors.initials: N
authors.lastname: Nakamura
authors.forename: Shigeo
authors.initials: S
authors.lastname: Toyota
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Shuji
authors.initials: S
authors.lastname: Tohda
mesh_terms: D019938:Cyclin D1 / Q000235:genetics*; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007952:Leukemia, Plasma Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D032681:Spectral Karyotyping
chemical_list: C530104:CCND1 protein, human; D007143:Immunoglobulin Heavy Chains; D019938:Cyclin D1