A ZMYM2-FGFR1 8p11 myeloproliferative neoplasm with a novel nonsense RUNX1 mutation and tumor lysis upon imatinib treatment

Molecular genetic characterization of myeloid/lymphoid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, FGFR1 or PCM1-JAK2

“…Until now, one case was reported in 2013 with ZMYM2-FGFR1 and also a RUNX1 mutation detected by Sanger sequencing. 12 In addition, work from 2015 identified a patient with FGFR1 rearrangement and a second translocation, which involved the RUNX1 gene. mutations are known to be associated with inferior outcome in AML or MDS, too.…”

Primary cells in BCR/FGFR1‐positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib

“…The small molecule PKC412 (midostaurin) resulted in reduced leukocytosis and splenomegaly in one patient with EMS until transplantation 6 months later . Imatinib was described to lower the white blood count in another patient with EMS but did not induce remission . A third patient achieved a short phase of remission but relapsed during chemotherapy and was treated with a combination of hydroxyurea and sorafenib but unfortunately did not reach a second remission on this therapy .…”

“…45 Imatinib was described to lower the white blood count in another patient with EMS but did not induce remission. 46 A third patient achieved a short phase of remission but relapsed during chemotherapy and was treated with a combination of hydroxyurea and sorafenib but unfortunately did not reach a second remission on this therapy. 47 It was recently reported that a patient harboring a BCR/FGFR1 translocation achieved a clinical response with less lymphadenopathy as well as reduced transcript levels upon ponatinib treatment.…”

“…Bone marrow cells from the patient were analyzed using fluorescent in situ hybridization (FISH) and reverse transcriptase polymerase chain reaction (RT-PCR), but the suspected BCR/ABL1 fusion was not detected. Cytogenetic analysis of the bone marrow showed the abnormal karyotype46,XY,del(3)(q13q?26),der(8)t(3;8)(?q? ;p11)t(3;22) (?q?;q11),der(22)t(8;22)(p11;q11).…”

Precursor T-Lymphoblastic Lymphoma Associated with t(8;9)(p11.2;q33): A Case Report and Review of the Literature

“…Mutations in TP53, EZH2, ETV6, RUNX1, and ASXL1 are predictors of poor overall survival in patients with myelodysplastic syndromes, independently of established risk factors [29]. Buijs et al [30] described a case of an 8p11.2 ZMYM2-FGFR1 myeloproliferative neoplasm, first presenting with a novel RUNX1 nonsense mutation. Faced with an aggressive neoplasm for which intensive chemotherapy was not possible, the patient was treated with imatinib, which resulted in a transient reduction of leukocytes, correlating with massive tumor lysis.…”