Successful Treatment of a Patient with Chronic Myelogenous Leukemia with Concurrent Janus Kinase 2 (JAK2) R795S Mutation and Breakpoint Cluster Region-ABL1 (BCR-ABL1) Fusion: A Case Report and Literature Review

Yanhua Yue; Wei Wei; Yanting Guo; Fei Wang; Weimin Dong; Yue Liu; Yan Lin; Yang Cao; Weiying Gu

doi:10.12659/AJCR.925151

06 October 2020 : Case report China (mainland)

Successful Treatment of a Patient with Chronic Myelogenous Leukemia with Concurrent Janus Kinase 2 (JAK2) R795S Mutation and Breakpoint Cluster Region-ABL1 (BCR-ABL1) Fusion: A Case Report and Literature Review

Unusual clinical course

Yanhua Yue^1ABCDEFG, Wei Wei^1ABCDEF, Yanting Guo^1B, Fei Wang^1C, Weimin Dong^1D, Yue Liu^1B, Yan Lin^1G, Yang Cao^1G, Weiying Gu^1ABCDEFG*

DOI: 10.12659/AJCR.925151

Am J Case Rep 2020; 21:e925151

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Table 1. Characteristics of patients with MF and CML with coexisting JAK2 gene mutations and BCR-ABL1 translocations since 2005.

Age (years)	Sex	Diagnosis (+CML)	Treatment	Course	Phase	Clone interaction	Reference number
50	M	MF	HU then I	CML, MF 4 years later	CP	BCR-ABL disappeared, JAK2 constant	[]²
66	M	MF	I then HU	Concomitant	CP?	?	[]³
55	M	MF	I	CML, MF 2 years later	AP	BCR-ABL decreased, JAK2 increased	[]⁴
49	M	MF	I then D	CML, MF 2 years later	CP	BCR-ABL and JAK2 decreased	[]⁵
64	M	MF	I then N	Concomitant	AP	BCR-ABL decreased, JAK2 constant	[]⁵
52	F	MF	HU then I	Concomitant	CP	BCR-ABL and JAK2 decreased	[]⁶
58	M	MF	I then HU	MF, CML 4 years later	?	BCR-ABL decreased, JAK2 increased	[]⁷
67	M	MF	I then HU	Concomitant	CP	?	[]⁸
58	F	MF	HU, INF	Concomitant	CP?	?	[]⁹
67	M	MF	N then D	MF, CML 3 years later	CP	BCR-ABL decreased, JAK2 constant	[]¹⁰
58	M	MF	HU, D	Concomitant	?	?	[]¹¹
75	M	MF	I then HU	Concomitant	CP?	?	[]¹²
54	F	MF	I\N\D	Concomitant	CP	BCR-ABL decreased, JAK2 constant	[]¹³
56	M	PV/MF	HU then R	PV/MF, CML? 16.1 years later			[]¹⁴
73	F	ET/MF	HU then R	ET/MF, CML? 9.6 years later		BCR-ABL and JAK2 decreased	[]¹⁴
44	F	PV/MF	INF, R then I	PV/MF, CML 5.0 years later			[]¹⁴
40	F	ET/MF	R, I then B	ET/MF, CML 33 years later	CP		[]¹⁴
76	F	ET/MF	A, I, P, R, Ara-c	ET/MF, CML 10 years later	CP-AP-BP		[]¹⁴
48	F	MF	N, HU, R	PMF, CML 10.75 years later	CP	BCR-ABL and JAK2 decreased	[]¹⁵
66	F	ET/MF	HU, R, I, B	ET/MF, CML 3.75 years later	CP		[]¹⁵
48	F	PV/MF	Phleb, HU, INF, I, R	PV/MF, CML 4.83 years later	CP		[]¹⁵
60	F	PV/MF	HU, Th, R, I	PV/MF, CML 8.9 years later			[]¹⁵
70	M	MF	I, N, D, HU	Concomitant		BCR-ABL increased, JAK2 decreased	[]¹⁵
50	F	MF	IA/D	Concomitant	BP	BCR-ABL and JAK2 decreased	Our case
A – anagrelide; AP – accelerated phase; Ara-c – cytarabine; B – bosutinib; BP – blast phase; CML – chronic myelogenous leukemia; CP – chronic phase; D – dasatinib; ET/MF – myelofibrosis secondary to essential thrombocytosis; F – Female; HU – hydroxyurea; I – imatinib; INF – interferon; IA – idarubicin and cytarabine; M – Male; MF – myelofibrosis; N – nilotinib; PV/MF – myelofibrosis secondary to polycythemia vera; P – ponatinib; Phleb – therapeutic phlebotomy; R – ruxolitinib; Th – thalidomide.

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Successful Treatment of a Patient with Chronic Myelogenous Leukemia with Concurrent Janus Kinase 2 (JAK2) R795S Mutation and Breakpoint Cluster Region-ABL1 (BCR-ABL1) Fusion: A Case Report and Literature Review

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