title: PAX5-positive plasma cell myeloma with t(9;14;11)(p13;q32;q13), a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32).
abstract: We describe herein the case of a 64-year-old man with a diagnosis of plasma cell myeloma (PCM). A chromosome analysis based on G-banding and spectral karyotyping revealed the following complex karyotype: 46,XY,del(3)(p?), t(4;15)(q31;q24),t(9;14;11)(p13;q32;q13),add(15)(q24),add(18)(q21). Fluorescence in situ hybridization (FISH) detected one signal each for the immunoglobulin heavy chain (IGH) and cyclin D1 (CCND1) genes, and three fusion signals of IGH and CCND1. FISH analysis of metaphase spreads revealed fusion signals on the derivative chromosomes 9, 11, and 14. Immunohistochemical analysis identified abnormal expression of CCND1 and PAX5. PAX5-positive PCM is rare because the down-regulation of PAX5 is essential for the terminal differentiation of B cells into plasma cells. To the best of our knowledge, this is the first reported case of a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32).
authors: Division of Hematology and Oncology, Department of Internal Medicine, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 216-8511, Japan.
authors: Kazuyuki
authors: K
authors: Sato
authors: Hirotaka
authors: H
authors: Sakai
authors: Masayuki
authors: M
authors: Kato
authors: Yuji
authors: Y
authors: Nishio
authors: Yuka
authors: Y
authors: Tsuruoka
authors: Yu
authors: Y
authors: Uemura
authors: Satoshi
authors: S
authors: Yokoi
authors: Tasuku
authors: T
authors: Saito
authors: Manabu
authors: M
authors: Matsunawa
authors: Yoshinori
authors: Y
authors: Suzuki
authors: Yasushi
authors: Y
authors: Isobe
authors: Yasuyuki
authors: Y
authors: Inoue
authors: Masatomo
authors: M
authors: Takahashi
authors: Ikuo
authors: I
authors: Miura
mesh_terms: D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019938:Cyclin D1 / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics* / Q000473:pathology*; D051757:PAX5 Transcription Factor / Q000032:analysis* / Q000235:genetics; D010950:Plasma Cells / Q000378:metabolism / Q000473:pathology*; D014178:Translocation, Genetic
chemical_list: C530104:CCND1 protein, human; D007143:Immunoglobulin Heavy Chains; D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human; D019938:Cyclin D1
references: Leukemia. 2003 Oct;17(10):2032-5
references: 14513054
references: Am J Surg Pathol. 2002 Oct;26(10 ):1343-50
references: 12360049
references: Nat Immunol. 2007 May;8(5):463-70
references: 17440452
references: Blood. 2003 Aug 1;102(3):1070-1
references: 12702507
references: Blood. 1996 Dec 1;88(11):4110-7
references: 8943844
references: Adv Anat Pathol. 2007 Sep;14 (5):323-34
references: 17717432
references: Proc Natl Acad Sci U S A. 1996 Jun 11;93(12 ):6129-34
references: 8650231
references: Am J Clin Pathol. 2004 Apr;121(4):482-8
references: 15080299
references: Oncogene. 2001 Sep 10;20(40):5611-22
references: 11607813
references: Hum Pathol. 2004 Apr;35(4):447-54
references: 15116325
references: Int J Hematol. 2010 Oct;92 (3):451-62
references: 20882442
references: Blood. 2003 Feb 15;101(4):1570-1
references: 12393502
references: Mol Cell Biol. 1992 Jun;12 (6):2662-72
references: 1375324
references: Blood. 2001 Oct 1;98(7):2266-8
references: 11568015
references: Nat Rev Cancer. 2002 Mar;2(3):175-87
references: 11990854
references: Int J Hematol. 2013 Mar;97(3):313-23
references: 23456262
references: Blood. 1998 Nov 15;92 (10 ):3865-78
references: 9808580
references: Genes Chromosomes Cancer. 2005 Oct;44(2):218-23
references: 15942942