癌症表中的 Jak 和细胞因子受体突变体

该表列举了发现于各种癌症中的 Jak 和细胞因子受体突变体，以及相应的发表资料。

Jak 突变体

Jak 突变体	细胞因子受体	疾病	参考文献
Jak2 V617F	EpoR, TpoR (MPL), G-CSFR	Myeloproliferative neoplasms (MNPs), PV, ET, PMF	(1, 2, 3, 4, 5)
Jak2 K539L, exon 12 mutants	EpoR	MNP: PV	(6)
Jak2 T875N	Undetermined	AML (AMKL)	(7)
Jak3 A572V	Undetermined	AML (AMKL) (cell lines)	(8)
Jak1 V658F, Jak1 A634D, R879H, R724S	IL2R, IL9R, other undetermined	T-ALL	(9, 10)
Jak1 R683G/S Jak2 DIREED	TLSPR	Pediatric and Down syndrome ALL	(11, 12, 13, 14, 15)
Jak2 V617I, Jak2 R564Q, Jak2 S755R/ R938Q	TpoR (MPL)	Hereditary thrombocytosis	(16, 17, 18)

受体突变体

受体突变体	细胞因子受体	疾病	参考文献
TpoR W515L/K/A	Jak2	MPNs: ET, PMF	(19, 20, 21)
TpoR S505N			(22)
TpoR S487A			(23)
TLSPR F232S / TLSPR translocations	Jak2 R683 mutants	Pediatric and Down syndrome ALL	(13, 24, 25, 26)

我们衷心感谢来自比利时布鲁塞尔路德维格癌症研究所的 Stefan N. Constantinescu 教授提供了该表格。

参考文献

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