Περίληψη:
The Mixed Lineage Leukemia (MLL) gene has been identified in 11q23
translocations. The aim of the present study is the investigation of the
frequency of MLL gene rearrangements in cases of de novo myelodysplastic
syndromes (MDS). Sixty-two patients with de novo MDS were included in
the analysis. The detection of MLL gene rearrangements was performed by
Southern blot. Clonal karyotypic abnormalities were found in 15/50
(30%) cases. 11q23 abnormalities were not detected. One case with RAEB
and a complex karyotype presented a del (11)(q13); further analysis by
FISH revealed loss of one copy of MLL gene in all metaphases. Southern
blot revealed germline bands in all cases using Eco RI and in 61/62
cases with Bam HI. The case with RAEB and a del (11)(q13) revealed a
rearranged band following only Bam HI digestion, but not Eco RI.
Rearrangements of MLL gene within exons 5-9 were not identified in this
series of adult de novo MDS, indicating that this molecular abnormality
is not involved in the pathogenesis of this group of hemopoietic
disorders.
Συγγραφείς:
Pappa, V
Young, BD
Economopoulos, T
Papageorgiou, E and
Panani, A
Lilington, D
Bollas, G
Stamouli, M
Kontsioti,
F
Tsiotra, P
Vessalas, G
Dervenoulas, J
Raptis, S