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Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel
Sylvain Mareschal1, Anne Pham-Ledard2, Pierre Julien Viailly1
1Department of Hematology, Henri Becquerel Comprehensive Cancer Center and Normandie Université, UNIROUEN, INSERM U1245, Team Genomics and biomarkers in lymphoma and solid tumors, Rouen, France.
The Journal of Investigative Dermatology
|May 9, 2017
Summary
Primary cutaneous diffuse large B-cell lymphoma of the leg type (PCLBCL-LT) has a unique genetic profile. Key mutations in MYD88, PIM1, and CD79B drive this distinct lymphoma subtype.
Area of Science:
- Oncology
- Genetics
- Immunology
Background:
- Primary cutaneous diffuse large B-cell lymphoma, leg type (PCLBCL-LT) is a distinct subtype of diffuse large B-cell lymphoma (DLBCL).
- Understanding the unique molecular underpinnings of PCLBCL-LT is crucial for targeted therapy development.
Purpose of the Study:
- To investigate the distinct mutational landscape of PCLBCL-LT.
- To compare the genetic profile of PCLBCL-LT with other DLBCL subtypes.
Main Methods:
- Next-generation sequencing (NGS) on a cohort of 20 PCLBCL-LT patients using a DLBCL-specific gene panel.
- Whole-exome sequencing (WES) on 12 tumor-control DNA pairs.
- Resequencing of TBL1XR1, KLHL6, and IKZF3 genes.
Main Results:
- PCLBCL-LT exhibits a unique mutational profile characterized by recurrent mutations in MYD88 (p.L265P), PIM1, and CD79B (>40% frequency).
- Other frequently altered genes include TBL1XR1 (33%), HIST1H1E (41%), MYC (26%), CREBBP (26%), and IRF4 (21%).
- Common genetic losses involve CDKN2A/2B, TNFAIP3/A20, PRDM1, TCF3, and CIITA. The MYD88 L265P variant correlates with copy number alterations.
Conclusions:
- PCLBCL-LT possesses a distinct genetic signature with recurrent mutations in NF-κB and B-cell receptor signaling pathways.
- These findings support the potential efficacy of B-cell receptor signaling inhibitors for PCLBCL-LT treatment.
