Table 1.

JAK-Related Mutations in Hematological Malignancies

Type of Lesion	Mutation	Disease	Frequency	Reference
Fusion	TEL-JAK2	T-ALL	rare	Lacronique et al. (1997)
	BCR-JAK2	atypical CML	rare	Griesinger et al. (2005)
	PCM1-JAK2	AML, T-ALL	rare	Reiter et al. (2005)
	RPN1-JAK2	PMF	rare	Mark et al. (2006)
	SSBP2-JAK2	B-ALL	rare	Poitras et al. (2008)
	PAX5-JAK2	B-ALL	rare	Nebral et al. (2009)
Point Mutation: JAK2	V617F	PV	~95%	Baxter et al. (2005); James et al. (2005); Kralovics et al. (2005); Levine et al. (2005b)
		ET	50%–60%	see above
		PMF	50%–60%	see above
	exon 12 variants	PV	~3%	Scott et al. (2007)
	exon 12-15 variants	MPNs	rare	Ma et al. (2009)
	ΔIREED	B-ALL	rare	Malinge et al. (2007)
	L611S	B-ALL	rare	Kratz et al. (2006)
	R683 variants	DS-ALL	18%–28%	Bercovich et al. (2008); Kearney et al. (2009)
	R683 variants	B-ALL	7%	Mullighan et al. (2009b)
Point Mutation: JAK1	T478S, V623A	AML	rare	Xiang et al. (2008)
	A634D	T-ALL	4%–18%	Asnafi et al. (2010); Flex et al. (2008)
Point Mutation: JAK3	A572V, V722I, P132T	AMKL	rare	Walters et al. (2006)
	L156P, R172Q, E183G	ATLL	rare	Elliott et al. (2011)
Amplification	JAK2	PMBL, HL	30%–50%	Joos et al. (2000); Lenz et al. (2008); Rosenwald et al. (2003)

Disease abbreviations are as follows: T-ALL, T cell acute lymphoblastic leukemia; CML, chronic myelogenous leukemia; AML, acute myelogenous leukemia; B-ALL, B lineage acute lymphoblastic leukemia; PV, polycythemia vera; ET, essential thrombocythemia; PMF, primary myelofibrosis; MPN, myeloproliferative neoplasms; DS-ALL, Down’s syndrome-associated acute lymphoblastic leukemias; AMKL, acute megakaryocytic leukemia; ATLL, adult T cell leukemia or lymphoma; PMBL, peripheral mediastinal B cell lymphoma; HL, Hodgkin’s lymphoma.