Clinical characteristics of JAK2 insertion/deletion variants
| Patient . | Age (y)/sex . | Variant (DNA) . | Variant . | VAF (%) . | Additional mutations . | Clinical phenotype . | Clinical features . |
|---|---|---|---|---|---|---|---|
| 1 | 69/F | c.1747_1756delinsT | Leu583_Ala586delinsSer | 10 | None | PV/CEL (EPO 2.5 IU/L, Hct 48.3%) | Findings: LV thrombus Treatment course: AbE improved on ruxolitinib |
| 2 | 82/F | c.1748_1757delinsA | Leu583_Ala586delinsGln | 16.70 | DNMT3A c.1728delT (VAF 32%) | CEL | Findings: cortical basal degeneration Treatment course: started on co-careldopa; deceased |
| 3 | 30/M | c.1747_1756delinsT | Leu583_Ala586delinsSer | 44 | None | PV/CEL (EPO 1.4 IU/L; Hct 57%) | Findings: visual symptoms Treatment course: Hct improved on pegylated-IFN, but no improvement in AbE |
| 4* | Unknown | c.1748_1756del | Leu583_Ala586delinsPro | N/A | N/A | CEL (unknown if PV) | Unknown |
| Patient . | Age (y)/sex . | Variant (DNA) . | Variant . | VAF (%) . | Additional mutations . | Clinical phenotype . | Clinical features . |
|---|---|---|---|---|---|---|---|
| 1 | 69/F | c.1747_1756delinsT | Leu583_Ala586delinsSer | 10 | None | PV/CEL (EPO 2.5 IU/L, Hct 48.3%) | Findings: LV thrombus Treatment course: AbE improved on ruxolitinib |
| 2 | 82/F | c.1748_1757delinsA | Leu583_Ala586delinsGln | 16.70 | DNMT3A c.1728delT (VAF 32%) | CEL | Findings: cortical basal degeneration Treatment course: started on co-careldopa; deceased |
| 3 | 30/M | c.1747_1756delinsT | Leu583_Ala586delinsSer | 44 | None | PV/CEL (EPO 1.4 IU/L; Hct 57%) | Findings: visual symptoms Treatment course: Hct improved on pegylated-IFN, but no improvement in AbE |
| 4* | Unknown | c.1748_1756del | Leu583_Ala586delinsPro | N/A | N/A | CEL (unknown if PV) | Unknown |
AbE, absolute eosinophil count; F, female; IFN, interferon; LV, left ventricular; M, male; N/A, not available.
*Pardanani et al.28