Contributions
Abstract: PB1924
Type: Publication Only
Background
Myelodysplastic syndromes are heterogeneous diseases with variable probability of developing a transformation to acute leukaemia. The vast majority of these cases present a transformation to acute myeloid leukaemia. We here describe a series of 4 cases of MDS/CMML with evolution to acute lymphoblastic leukaemia. These events are very rare and are to date only published as single cases.
Aims
The aim of these study is to better define cases of MDS transforming to ALL.
Methods
We describe 4 cases of patients suffering from MDS who in the course of their disease presented with ALL. Three of these cases presented in 1 centre, 1 in the other, all cases were documented in a 17-year time span.
Results
Subtypes of MDS are varying from low risk MDS with deletion (5q) (del(5q)) to refractory anaemia with excess of blasts in transformation (RAEB-T), classified as AML in newer WHO classifications (2008 and 2016) and CMML, classified as MDS/MPS nowadays. Even if MDS subgroups are manifold, cytogenetic results are less so. Two of the 4 patients described demonstrated KMT2A rearrangements, 1 already at MDS presentation, the other at ALL presentation. One patient presented with del(5q).
Conclusion
KMT2A is known to be a gene involved in myeloid neoplasms as well as in acute lymphoblastic leukaemia. In a small series of cases like this one, it is not excluded that ALL following MDS is only by chance and “bad luck”, but at least in the patient showing the same translocation at MDS presentation and at ALL presentation, both diseases seem to be related. MLL as a cytogenetic event enabling the disease a switch from one phenotype (myeloid) to the other (lymphoblastic) could be a possible explanation for this phenomenon. KMT2A rearrangement in MDS is an extremely rare event, but could explain part of these rare changelings of MDS transforming to ALL.
Session topic: 10. Myelodysplastic syndromes - Clinical
Keyword(s): MDS, ALL, 11q23
Abstract: PB1924
Type: Publication Only
Background
Myelodysplastic syndromes are heterogeneous diseases with variable probability of developing a transformation to acute leukaemia. The vast majority of these cases present a transformation to acute myeloid leukaemia. We here describe a series of 4 cases of MDS/CMML with evolution to acute lymphoblastic leukaemia. These events are very rare and are to date only published as single cases.
Aims
The aim of these study is to better define cases of MDS transforming to ALL.
Methods
We describe 4 cases of patients suffering from MDS who in the course of their disease presented with ALL. Three of these cases presented in 1 centre, 1 in the other, all cases were documented in a 17-year time span.
Results
Subtypes of MDS are varying from low risk MDS with deletion (5q) (del(5q)) to refractory anaemia with excess of blasts in transformation (RAEB-T), classified as AML in newer WHO classifications (2008 and 2016) and CMML, classified as MDS/MPS nowadays. Even if MDS subgroups are manifold, cytogenetic results are less so. Two of the 4 patients described demonstrated KMT2A rearrangements, 1 already at MDS presentation, the other at ALL presentation. One patient presented with del(5q).
Conclusion
KMT2A is known to be a gene involved in myeloid neoplasms as well as in acute lymphoblastic leukaemia. In a small series of cases like this one, it is not excluded that ALL following MDS is only by chance and “bad luck”, but at least in the patient showing the same translocation at MDS presentation and at ALL presentation, both diseases seem to be related. MLL as a cytogenetic event enabling the disease a switch from one phenotype (myeloid) to the other (lymphoblastic) could be a possible explanation for this phenomenon. KMT2A rearrangement in MDS is an extremely rare event, but could explain part of these rare changelings of MDS transforming to ALL.
Session topic: 10. Myelodysplastic syndromes - Clinical
Keyword(s): MDS, ALL, 11q23