Table 1.

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

AbE, absolute eosinophil count; F, female; IFN, interferon; LV, left ventricular; M, male; N/A, not available.

*Pardanani et al.²⁸