Cutaneous T-cell lymphomas (CTCL) are the most frequent primary lymphomas of the skin, with mycosis fungioides being the most prevalent form accounting for 60% of cases. Although CTCL is treatable in early stages, its diagnosis can be difficult due to the lack of specific biomarkers and dependence on clinical and histological observations that can be misdiagnosed as benign skin diseases. In mycosis fungoides, early detection and treatment is directly correlated with outcome, patients with advanced stages have a survival rate of less than 1.5 years. A unique biomarker has been identified that is specific to CTCL and may serve as early detection and a potential therapeutic target for the diagnosis of CTCL.
Novel Fusion Protein Identified as Biomarker for Accurate Diagnosis of Cutaneous T-cell Lymphomas
A translocation event has been identified in a primary cell line derived from human CTCL that creates a chimeric transcript from the fusion of the NPM1 gene to the TYK2 gene. This fusion results in a constitutive TYK2 activation, a gene known to play a key role in CTLC-mediated tumor surveillance. This is the first identification of TYK2 gene fusion related to cancer. The presence of the NPM1-TYK2 fusion and constitutive TYK2 activation is specific for the CTCL cell line when compared to other hematopoietic cell lines. This unique fusion protein represents a new biomarker for a more efficient and accurate method of detecting lymphomas in a normal population.
- New diagnostic biomarker for diagnosis of CTCL
- Potential therapeutic target for CTCL treatment
- Efficient and accurate method to detect CTCL from normal population
- Combinatorial approach with clinical and histological observations will facilitate rapid diagnosis and therapeutic intervention