PMC4599646_01
Sagittal T1-weighted magnetic resonance images depict focuses of plasma cell infiltration and pathologic fractures in the T4 (A) and L1 (B) vertebrae.. Note: Red arrows indicate large focal lesions in the vertebrae.
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Physical examination and magnetic resonance imaging revealed large focal lesions in the fourth thoracic vertebra (Figure 1A) and first lumbar vertebra (Figure 1B). CYLD, TP53, and CDH2) and a frameshift mutation in EGFR. Changes in relative copy number were also assessed from the sequencing data, and we identified 133 copy number variant (CNV) regions, including 87 gain and 46 loss regions (Figure 2B and Table S1).
Evaluation of a bone marrow aspirate.. Notes: (A) Conventional karyotyping of metaphase cells from BM aspirate was performed using the G-banding technique. Complex cytogenetic aberrancies including loss of chromosomes, and additional uncharacterized materials at chromosome 8 (1) and 13 (2) are shown here. In addition, a dicentric translocation involving chromosome 11 and 14 (3) were also observed. (B) Visualization of CNVs over the entire genome in the karyotype view. The decreased copy number is indicated in red with increased copy number indicated in blue. (C) Interphase FISH studies were performed on BM aspirates using IgH/CCND1 dual color dual fusion probe (Vysis Inc., Des Plaines, IL, USA). The cell showed one orange (normal CCND1), one green (normal IgH), and two yellow signals (arrows), indicating typical t(11;14) rearrangement.. Abbreviations: CNV, copy number variant; FISH, fluorescence in situ hybridization; BM, bone marrow.
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BM analysis showed complex aberrations often observed in this patient (Figures 2A and 2B) and an elevated plasma cell percentage (59.8%). The chromosomal translocation t(11:14) (q13:q32), which generates the IgH/CCND1 fusion gene, was also identified in our case by FISH (Figure 2C). CYLD, TP53, and CDH2) and a frameshift mutation in EGFR. Changes in relative copy number were also assessed from the sequencing data, and we identified 133 copy number variant (CNV) regions, including 87 gain and 46 loss regions (Figure 2B and Table S1).
Clinical course of the patient.. Abbreviations: HD, high dose; DEX, dexamethsone; Cy, cyclophosphamide; FLC, free light chain; IgG, Immunoglobulin G.
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He was admitted for combination chemotherapy with combination chemotherapy with bortezomib, cyclophosphamide, lenalidomide, and dexamethasone, but his response was poor (Figure 3), and an increase in myeloma cells was detected by BM biopsy.