Literature DB >> 25633778

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).

Kazuyuki Sato1, Hirotaka Sakai, Masayuki Kato, Yuji Nishio, Yuka Tsuruoka, Yu Uemura, Satoshi Yokoi, Tasuku Saito, Manabu Matsunawa, Yoshinori Suzuki, Yasushi Isobe, Yasuyuki Inoue, Masatomo Takahashi, Ikuo Miura.   

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).

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Year:  2015        PMID: 25633778     DOI: 10.1007/s12185-015-1749-5

Source DB:  PubMed          Journal:  Int J Hematol        ISSN: 0925-5710            Impact factor:   2.490


  18 in total

1.  CD20 is associated with a small mature plasma cell morphology and t(11;14) in multiple myeloma.

Authors:  Nelly Robillard; Herve Avet-Loiseau; Richard Garand; Philippe Moreau; Danielle Pineau; Marie-Josee Rapp; Jean-Luc Harousseau; Regis Bataille
Journal:  Blood       Date:  2003-04-17       Impact factor: 22.113

2.  t(11;14) and t(4;14) translocations correlated with mature lymphoplasmacytoid and immature morphology, respectively, in multiple myeloma.

Authors:  R Garand; H Avet-Loiseau; F Accard; P Moreau; J L Harousseau; R Bataille
Journal:  Leukemia       Date:  2003-10       Impact factor: 11.528

3.  Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma.

Authors:  M Busslinger; N Klix; P Pfeffer; P G Graninger; Z Kozmik
Journal:  Proc Natl Acad Sci U S A       Date:  1996-06-11       Impact factor: 11.205

4.  The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.

Authors:  S Iida; P H Rao; P Nallasivam; H Hibshoosh; M Butler; D C Louie; V Dyomin; H Ohno; R S Chaganti; R Dalla-Favera
Journal:  Blood       Date:  1996-12-01       Impact factor: 22.113

Review 5.  Diagnostic uses of Pax5 immunohistochemistry.

Authors:  Andrew L Feldman; Ahmet Dogan
Journal:  Adv Anat Pathol       Date:  2007-09       Impact factor: 3.875

Review 6.  Chromosome translocations in multiple myeloma.

Authors:  P L Bergsagel; W M Kuehl
Journal:  Oncogene       Date:  2001-09-10       Impact factor: 9.867

7.  Flow cytometric immunophenotypic analysis of 306 cases of multiple myeloma.

Authors:  Pei Lin; Rebecca Owens; Guido Tricot; Carla S Wilson
Journal:  Am J Clin Pathol       Date:  2004-04       Impact factor: 2.493

8.  Lack of PAX5 rearrangements in lymphoplasmacytic lymphomas: reassessing the reported association with t(9;14).

Authors:  James R Cook; Nadine Ives Aguilera; Shalini Reshmi-Skarja; Xin Huang; Zhisheng Yu; Susanne M Gollin; Susan L Abbondanzo; Steven H Swerdlow
Journal:  Hum Pathol       Date:  2004-04       Impact factor: 3.466

9.  The value of anti-pax-5 immunostaining in routinely fixed and paraffin-embedded sections: a novel pan pre-B and B-cell marker.

Authors:  Emina Torlakovic; Goran Torlakovic; Phuong L Nguyen; Richard D Brunning; Jan Delabie
Journal:  Am J Surg Pathol       Date:  2002-10       Impact factor: 6.394

Review 10.  Pax5: the guardian of B cell identity and function.

Authors:  César Cobaleda; Alexandra Schebesta; Alessio Delogu; Meinrad Busslinger
Journal:  Nat Immunol       Date:  2007-05       Impact factor: 25.606

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