AI Article Synopsis
- A 64-year-old man diagnosed with plasma cell myeloma (PCM) exhibited a complex karyotype involving deletions and multiple translocations, including t(4;15) and t(9;14;11).
- Chromosome analysis using G-banding and spectral karyotyping detailed structural changes, while FISH further illuminated the presence of fused IGH and CCND1 genes in his genetic makeup.
- This case is notable for its rarity, highlighting unusual PAX5 expression, as down-regulation of PAX5 is typically needed for B cells to mature into plasma cells, making it a unique instance of PCM with a complex variant translocation.
Article 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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| http://dx.doi.org/10.1007/s12185-015-1749-5 | DOI Listing |
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