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)
| Autor: | Satoshi Yokoi, Yu Uemura, Ikuo Miura, Yasuyuki Inoue, Hirotaka Sakai, Manabu Matsunawa, Kazuyuki Sato, Masatomo Takahashi, Yasushi Isobe, Yoshinori Suzuki, Masayuki Kato, Yuka Tsuruoka, Tasuku Saito, Yuji Nishio |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Plasma Cells Chromosomal translocation Biology Translocation Genetic immune system diseases hemic and lymphatic diseases Plasma Cell Myeloma Complex Karyotype medicine Humans Cyclin D1 Metaphase In Situ Hybridization Fluorescence Chromosomes Human Pair 14 medicine.diagnostic_test Chromosomes Human Pair 11 PAX5 Transcription Factor Karyotype Hematology Middle Aged Molecular biology Chromosome Banding Gene Expression Regulation Neoplastic Karyotyping Immunoglobulin heavy chain PAX5 Chromosomes Human Pair 9 Immunoglobulin Heavy Chains Multiple Myeloma Fluorescence in situ hybridization |
| Zdroj: | International Journal of Hematology. 101:608-611 |
| ISSN: | 1865-3774 0925-5710 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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