A case of coexistence between JAK2V617F and BCR /ABL

Coexistance of JAK2V617F mutation and BCR/ABL translocation in one patient

“…5 In contrast with these reports, more recently, several cases with the coexistence of BCR-ABL fusion gene and JAK2V617F mutation in blood and bone marrow samples were reported. [6][7][8][9][10][11][12][13] We report here a new case with concomitant BCR-ABL rearrangement and JAK2V617F mutation, and compare our findings with those of similar reports.…”

“…13 In contrast with other reports; 7-12 after the partial cytogenetic response to imatinib treatment, JAK2 mutation was disappeared. Therefore, they have firstly hypothesized that imatinib treatment have caused the regression of CML clone, as well as JAK2 mutated cells, and that JAK2 mutation can be acquired by Ph + cells , 13 But in most cases, as described previously, imatinib mesylate therapy did not effect the coexisting and/or acquired JAK2 clone, [7][8][9][10][11][12] Moreover, owing to a proliferative advantage, JAK2 mutated hematopoiesis could overwhelm the BCR-ABL translocated hematopoiesis. To our knowledge, it seems more likely that there are two independent growing aberrant stem cell clones.…”

“…The unexpected hematological responses (including thrombocytosis), 7 or erythrocytosis, 8,9 evolving myelofibrosis, 10,11 and/or persisting spleen enlargement, 7,12 under imatinib mesylate treatment led some physicians to detect for JAK2 mutation in either peripheral blood or bone marrow. Probably, imatinib therapy suppresses the BCR-ABL clone, enabling the proliferation of JAK2V617F mutated cells.…”

Emergence of chronic myelogenous leukemia during treatment for essential thrombocythemia

“…The co-emergence of CML and Bcr-Abl -CMPDs is extremely rare with only 14 previous cases reported [6][7][8][9][10][11][12][13][14][15][16][17][18], so that there is scant information on clinical outcomes and treatment strategies for this occurrence. For this reason, we review here CML accompanied by CMPDs in terms of both clinical features and treatments.…”

“…chronic myelogenous leukemia (CML) and Ph1-negative (Ph1 -) disorders, such as polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Although approximately 1-11% of the latter disorders transform into acute myelogenous leukemia (AML) in their late clinical phase regardless of JAK2V617F mutational status or leukocyte counts at diagnosis [1][2][3][4][5], the coexistence of or more CMPDs is extremely rare and only 14 cases with CML and Bcr-Abl-negative (Bcr-Abl -) CMPDs have been reported previously [6][7][8][9][10][11][12][13][14][15][16][17][18]. Here, we report a case with CML emerging after a 9-year history of ET, who was successfully treated with a combination of Bcr-Abl tyrosine kinase inhibitors (TKIs) and hydroxyurea (HU).…”