FLT3 mutation and AML/ETO in a case of Myelodysplastic syndrome in transformation corroborates the two hit model of leukemogenesis
Autor: | Maria Regina Regis Silva, Fernando Lopes Alberto, Eloisa de Sá Moreira, Ronald Feitosa Pinheiro, Maria de Lourdes Lopes Ferrari Chauffaille, Barbara Greggio |
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Rok vydání: | 2006 |
Předmět: |
Cancer Research
Oncogene Proteins Fusion Clone (cell biology) Biology RUNX1 Translocation Partner 1 Protein Bone Marrow hemic and lymphatic diseases Precursor cell Survival advantage Humans Genetics Karyotype Hematology Middle Aged body regions Transformation (genetics) Haematopoiesis Cell Transformation Neoplastic Oncology fms-Like Tyrosine Kinase 3 Tandem Repeat Sequences Concomitant Myelodysplastic Syndromes Flt3 mutation Core Binding Factor Alpha 2 Subunit Mutation Cancer research Disease Progression Female |
Zdroj: | Leukemia research. 31(7) |
ISSN: | 0145-2126 |
Popis: | The aim of this report is to present a case of Myelodysplastic syndrome (MDS) who presented, during AML transformation, a step-wise genetic progression that corroborates the two hit model of leukemogenesis. A RCDM-RS (WHO)/RARS (FAB) patient with normal karyotype at diagnosis, evolved into AML after six months of follow up. At transformation, AML/ETO fusion was detected, although marrow blast cells were not increased until 21 days later, when FLT3-ITD was also demonstrated pointing out that the overgrowth of the FLT3/ITD clone was concomitant with the outburst of marrow blasts. These findings corroborates the two hit model of leukemogenesis in which one class of mutations (Class I) (FLT3/ITD) confers a proliferative or survival advantage to cells, and a second class of mutations (Class II) (AML/ETO) interferes with hematopoietic differentiation. |
Databáze: | OpenAIRE |
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