Burden of cytogenetically abnormal plasma cells in light chain amyloidosis and their prognostic relevance

作者：Kim Seon Young; Im Kyongok; Park Si Nae; Kim Jung Ah; Yoon Sung Soo; Lee Dong Soon^*

来源：Leukemia Research, 2016, 44: 45-52.

DOI：10.1016/j.leukres.2016.03.001

• AL amyloidosis
• Monoclonal gammopathy of undermined significance
• Multiple myeloma
• Cytogenetics

We performed cytoplasmic fluorescence in situ hybridization assays of light chain amyloidosis (AL). In total, 234 patients were enrolled: 28 patients with AL, 24 with monoclonal gammopathy of undetermined significance (MGUS), and 182 with multiple myeloma (MM). Chromosomal abnormalities were detected in 13 of 22 (59%) AL patients without MM. All 13 patients demonstrated IGH rearrangement, and t(11;14)1IGH-CCND1 was most frequent (32%). Chromosome gain was not observed in AL patients without MM. These findings were dissimilar to findings in MGUS patients, in whom trisomy 9 was the most frequent abnormality. Of 6 AL patients with MM, 5 (83%) patients had cytogenetic abnormalities: lq gain (4/6, 67%), gains of chromosome 9 (3/6, 50%), IGH rearrangement and RBI (13q) deletions (2/6 each, 33%). The percentage of clonal plasma cells among total plasma cells was variable (median, 75%; range, 16-100%) for AL patients without MM, which was lower than the results for MM patients (median 100%). The overall survival of AL patients without MM was not significantly different according to the presence of cytogenetic abnormalities (13= 0.510). In summary, among Korean AL patients, IGH rearrangement was the most frequent cytogenetic abnormality and cytogenetic aberration patterns differ compared with MGUS and MM patients.

• 出版日期2016-5