Molecular cytogenetic aberrations in 21 Chinese patients with plasma cell leukemia

Abstract

Plasma cell leukemia (PCL) is a rare malignant plasma cell disorder. Cytogenetic studies performed on plasma cell disorders are scarce and difficult because of the low proliferation rate of plasma cells (PCs). Fluorescence in situ hybridization (FISH) analysis is an attractive alternative for evaluation of chromosomal changes in PCL. To explore the molecular cytogenetic abnormalities in Chinese patients with PCL, interphase FISH studies with three probes for the regions containing 13q14.3 (D13S319), 14q32 (IGHC/IGHV) and 1q12(CEP1) were retrospectively performed in 21 PCL patients. FISH with LSI IGH/CCND1 and LSI IGH/FGFR3 probes were used to detect t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with 14q32 rearrangement. Among 21 PCL patients, molecular cytogenetic aberrations were found in 18 (81.8%) patients, four (19.0%) patients simultaneously had 13q14 deletion, illegitimate IgH translocation and 1q abnormality. 13q14 deletion was detected in 13 (61.9%) cases and illegitimate 14q32 rearrangement in 16 (76.2%) including six with t(11;14) and three with t(4;14). Chromosome 1 abnormality was found in seven (33.3%) patients, one with deletion of 1q, six with at least three copies amplifications of 1q12 (Amp1q12). 14q32 rearrangement and 13q14 deletion were found concurrently in 11 (52.4%) cases. It was showed that most PCL had chromosomal abnormalities, 14q32 rearrangement, 13q14 deletion and chromosome 1 abnormality are the frequent abnormalities, and over half of the 14q32 rearrangement were t(11;14) or t(4;14). t(4;14) and 13q14 deletion were correlated in PCL. FISH is a highly sensitive technique at detecting molecular cytogenetic aberrations in PCL and should be used in the routine evaluation of PCL.

Plasma cell leukaemia and other aggressive plasma cell malignancies

“…Hypodiploidy and complex karyotypes with multiple numerical and structural abnormalities involving chromosome 1, 13 and 14 have been identified in a significant number of PCL cases (Colovic et al , 2008; Avet‐Loiseau et al , 2001; Garcia‐Sanz et al , 1999). Interestingly, similar distribution of genetic abnormalities have also been demonstrated in non‐Caucasian populations (Xu et al , 2009; Peijing et al , 2009).…”

Therapeutic Advances in the Treatment of Primary Plasma Cell Leukemia: A Focus on Hematopoietic Cell Transplantation

“…Deletions or mutation of p53 conferring adverse prognosis has been reported more frequently in PCL compared with MM (20%-56% in pPCL and 83% in sPCL versus 10%-15% in MM) [7,[15][16][17][18]. Chromosome 1 abnormalities are often seen in association with PCL [19]. Amplification of 1q21 and deletion 1p21 are more common in PCL (46%-67% and 21%-44%, respectively) than in MM (30%-43% and 20%-36%, respectively), contributing to the worse prognosis in PCL [16][17][18][20][21][22].…”