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Deregulation of JAK2 signaling underlies pcAECyTCL
AB
C
Figure 5. Small-scale mutations in genes of the JAK-STAT pathway are predominant in pcAECyTCL. (A) Diagrams showing deleterious indels and single nucleotide variants (SNV) in JAK2, JAK3, STAT3, STAT5B, SH2B3 and SOCS1 detected in primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma (pcAECyTCL) by whole-genome sequencing (Table 1). (B) Sanger chromatograms confirming presence of bona fide pathogenic SNV in patients with pcAECyTCL. (C) Summary of genetic alterations affecting members of the JAK-STAT pathway in pcAECyTCL.
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