Philadelphia chromosome positive AML arising from JAK2-positive myelofibrosis

Abstract

BackgroundA feature of myeloproliferative neoplasia is transforming to more aggressive and malignant myeloid neoplasia, including acute myeloid leukemia. Different pathogenesis mechanisms participate in transformation, including transformation of existing potential preleukemic clones, since JAK2-mutant myeloproliferative neoplasms often transform to JAK2 wild-type acute myeloid leukemia.Case presentationHere, we present an 80 year old man with a JAK2-V617F mutant primary myelofibrosis. After 10 months the disease transform into a Philadelphia chromosome positive acute myeloid leukemia, detecting the cytogenetic aberration; t(9;22)(q34;q22) encoding the rare BCR-ABL1 fusion gene; e6a2. The patient had treatment response to tyrosine kinases, illustrating the potential benefits of such approach in treating these patients subset.ConclusionThe case illustrates the potential of leukemic transformation to Philadelphia chromosome positive myeloid malignancies from potential existing preleukemic clones, and the awareness of such an evolution among patients with myeloproliferative neoplasms. Tyrosine kinases have potential effect also in patients presenting without chronic myeloid leukemia and with rare BCR-ABL1 fusion transcripts, and should probably be a part of the treatment approach.

Proteomics techniques in protein biomarker discovery

“…Diagnostic biomarkers may be used as tools to differentiate candidate diagnoses. The Philadelphia chromosome (Ph) translocation, for example, that results from translocation between the Abelson murine leukemia (ABL1) gene on chromosome 9 with the breakpoint cluster region (BCR) gene on chromosome 22 [4], is associated with chronic myelogenous leukemia, or subset of acute lymphoblastic leukemia [5]. Prognostic biomarkers, similarly, are employed to form a diagnosis, to stratify malignancy [6], and to evaluate the probability of disease progression.…”