Progression to B acute lymphoblastic leukemia in 8p11 myeloproliferative syndrome with t(6;8)(q27;p12).
Fumi NakamuraSachiko SeoYasuhito NannyaRika AyabeWataru TakahashiTomoyuki HandaHonoka AraiHisako IsoYuko NakamuraYuka NakamuraKo SasakiMotoshi IchikawaYoichi ImaiSeishi OgawaKinuko MitaniPublished in: International journal of hematology (2023)
8p11 myeloproliferative syndrome is a rare hematological malignancy caused by the translocation of FGFR1. Patients present with a myeloproliferative neoplasm that frequently transforms into acute myeloid leukemia or T-lymphoblastic lymphoma/leukemia. Here, we report a molecular study of a patient with 8p11 myeloproliferative syndrome who developed acute B-lymphoblastic leukemia and then transformed to mixed-phenotype acute leukemia. A 67-year-old woman was diagnosed with a myeloproliferative neoplasm with t(6;8)(q27;p12) and was monitored for polycythemia vera. Four years later, she developed acute B-lymphoblastic leukemia with an additional chromosomal abnormality of - 7. Despite two induction regimens, she failed to achieve complete remission, and leukemia transformed into mixed-phenotype leukemia. Targeted sequencing of serial bone marrow samples identified the RUNX1 L144R mutation upon transformation to B-cell leukemia. After those two induction regimens, some RUNX1 mutation-positive leukemic cells obtained the JAK2 V617F mutation, which was associated with the emergence of myeloid markers, including myeloperoxidase.
Keyphrases
- acute myeloid leukemia
- bone marrow
- allogeneic hematopoietic stem cell transplantation
- acute lymphoblastic leukemia
- case report
- mesenchymal stem cells
- end stage renal disease
- transcription factor
- ejection fraction
- gene expression
- newly diagnosed
- chronic kidney disease
- respiratory failure
- low grade
- oxidative stress
- intensive care unit
- cell proliferation
- prognostic factors
- induced apoptosis
- peritoneal dialysis
- patient reported
- dna methylation
- cell cycle arrest