FLT3 mutation and AML/ETO in a case of Myelodysplastic syndrome in transformation corroborates the two hit model of leukemogenesis
✍ Scribed by Ronald Feitosa Pinheiro; Eloisa de Sá Moreira; Maria Regina Régis Silva; Bárbara Greggio; Fernando Lopes Alberto; Maria de Lourdes L.F. Chauffaille
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 335 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0145-2126
No coin nor oath required. For personal study only.
✦ Synopsis
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.