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Published on: January 28, 2014
Analysis of chromosome 12p deletion in plasma cell dyscrasias
1Department of Laboratory Hematology, University Health Network, Toronto, Canada.
Abstract:
The prognostic relevance of 12p deletion is controversial in multiple myeloma (MM) and the status of 12p deletion is unknown in other plasma cell disorders. We investigated 12p deletion in 88 patients with MM, 19 patients with monoclonal gammopathy of undetermined significance (MGUS), and 17 patients with plasma cell leukemia (PCL). Cytoplasmic immunoglobulin light chain immunofluorescence with simultaneous FISH analysis (cIg-FISH) detected hemizygous 12p deletion in 8% of MM and 24% of PCL, respectively, but in none of the MGUS cases (p=0.0366). 12p deletions were found in 5 of 7 (71%) MM patients at diagnosis with stage III disease (Durie-Salmon), 2 of 7 (28%) with stage I or II. Of 11 cases with 12p deletions, 6 (55%) had coexistence of p53 deletions, including 3 of 7 (42%) MM, and 3 of 4 (75%) PCL cases. There were no significant differences in progression free or overall survivals in MM patients with or without 12p deletions. Our results do not support the use of 12p deletion as a prognostic marker in MM, rather, it tends to occur in advanced disease, may represent a secondary change associated with the disease progression.
Insights
12p deletion is not a reliable prognostic marker in multiple myeloma (MM). This genetic alteration was more frequent in advanced MM and plasma cell leukemia (PCL), suggesting it may be a secondary change during disease progression.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- The prognostic significance of 12p deletion in multiple myeloma (MM) remains debated.
- The presence and impact of 12p deletion in other plasma cell disorders are largely uncharacterized.
Purpose of the Study:
- To investigate the frequency and prognostic relevance of 12p deletion in multiple myeloma (MM), monoclonal gammopathy of undetermined significance (MGUS), and plasma cell leukemia (PCL).
Main Methods:
- Utilized cytoplasmic immunoglobulin light chain immunofluorescence with simultaneous fluorescence in situ hybridization (cIg-FISH) to detect 12p deletions.
- Analyzed 88 MM, 19 MGUS, and 17 PCL patients.
Main Results:
- Hemizygous 12p deletion was detected in 8% of MM and 24% of PCL cases, but none of the MGUS cases (p=0.0366).
- 12p deletions were more common in stage III MM (71%) compared to stage I/II (28%).
- Coexistence of p53 deletions was observed in 55% of cases with 12p deletions.
- No significant differences in progression-free or overall survival were found in MM patients with or without 12p deletions.
Conclusions:
- 12p deletion does not appear to be a useful prognostic marker in multiple myeloma (MM).
- The occurrence of 12p deletion in advanced disease stages suggests it may be a secondary genetic event associated with disease progression.
