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MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints
Irene Dambruoso1, Rosangela Invernizzi2, Marina Boni3
1Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy i.dambruoso@smatteo.pv.it.
Abstract:
In myelodysplatic syndromes and acute myeloid leukemia (MDS/AML) deletion of the 11q14 region is a rare chromosomal defect (incidence: 0.6-1.0%), included within the intermediate risk criteria by the International Prognostic Scoring System. No fluorescence in situ hybridization (FISH) study has yet been performed to identify a common breakpoint region (CBR). In our study through FISH with bacterial artificial chromosomes and commercial probes, we analyzed seven patients with MDS/AML harboring 11q14 deletion on conventional cytogenetic analysis. FISH revealed deletions in five patients and amplifications in two. Three patients with deletion carried a CBR, two had a deletion involving a more centromeric breakpoint. These five patients exhibited multilineage dysplasia, blast cells with large round nuclei, loose chromatin, small and abundant nucleoli, and vacuolated cytoplasm with very thin Auer bodies. In conclusion, the morphological features which occur independently of the extent of the deletion are of multilineage dysplasia in MDS and leukemic blasts strongly reactive to peroxidase in AML; despite the variable size of the deleted area, some patients harbor a CBR.
Insights
Deletion in the 11q14 region is a rare defect in myelodysplastic syndromes and acute myeloid leukemia (MDS/AML). This study identified a common breakpoint region (CBR) in some patients with this genetic alteration.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Deletion of the 11q14 region is a rare chromosomal defect (0.6-1.0% incidence) in myelodysplastic syndromes and acute myeloid leukemia (MDS/AML).
- This defect is classified under intermediate risk by the International Prognostic Scoring System.
- No previous fluorescence in situ hybridization (FISH) studies have identified a common breakpoint region (CBR) for this deletion.
Purpose of the Study:
- To investigate the presence of a common breakpoint region (CBR) in patients with MDS/AML harboring an 11q14 deletion using FISH.
- To correlate the cytogenetic findings with morphological features in these patients.
Main Methods:
- FISH analysis was performed on seven MDS/AML patients with 11q14 deletion identified by conventional cytogenetics.
- Bacterial artificial chromosomes and commercial probes were utilized for detailed FISH analysis.
Main Results:
- FISH revealed deletions in five patients and amplifications in two.
- Among the five patients with deletions, three harbored a CBR, while two had more centromeric breakpoints.
- Morphological features observed in these five patients included multilineage dysplasia, blast cells with specific nuclear and cytoplasmic characteristics, and thin Auer bodies.
Conclusions:
- A common breakpoint region (CBR) exists in a subset of MDS/AML patients with 11q14 deletions.
- Distinct morphological features, including multilineage dysplasia in MDS and strongly peroxidase-reactive leukemic blasts in AML, are associated with these deletions, irrespective of the deletion's size.
- These findings contribute to a better understanding of the genetic and morphological landscape of MDS/AML with 11q14 deletions.
