MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints.
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.
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy i.dambruoso@smatteo.pv.it.
Irene
I
Dambruoso
Division of Internal Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Rosangela
R
Invernizzi
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Marina
M
Boni
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Rita
R
Zappatore
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Ilaria
I
Giardini
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Maria Paola
MP
Cavigliano
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Barbara
B
Rocca
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Celeste
C
Calvello
Division of Internal Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Raffaella
R
Bastia
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Marilena
M
Caresana
Division of Radiotherapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.|Laboratory of Neuro Radio Experimental Biology, Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
Francesca
F
Pasi
Laboratory of Neuro Radio Experimental Biology, Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
Rosanna
R
Nano
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Paolo
P
Bernasconi
D000208:Acute Disease; D000328:Adult; D000368:Aged; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*
FISH; MDS/AML; chromosome 11; del(11)(q13-14); deletion; morphology