The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation

Table 1

Germline mutations in SH2B3, previously reported in MPN.

Germline mutation (domain)	Disease	Driver mutation	Reference
LNK p.E395K (SH2)	CMML	Not identified	Present case
LNK p.E400K (SH2)	MDS/MPN-RS-T	SF3B1	[10]
LNK p.E208Q (PH)	PMF	CALR type 1 [11]; not identified [12]	[11, 12]
LNK p.E208Q (PH)	ET	JAK2 V617F [11]; not identified [12]	[11, 12]
LNK p.E208Q (PH)	PV (two patients)	JAK2 V617F	[13]

Polycythemia vera (PV) or essential thrombocythemia (ET) or primary myelofibrosis (PMF) or MDS/MPN with ring sideroblasts and thrombocytosis.