-
Blood.
2006 May 1;107(9):3463-8. Epub 2005 Dec 29.
Prognostic impact of c-KIT mutations
in core binding factor leukemias: an Italian
retrospective study.
Cairoli R,
Beghini A, Grillo G, Nadali G, Elice F, Ripamonti
CB, Colapietro P, Nichelatti M, Pezzetti L, Lunghi
M, Cuneo A, Viola A, Ferrara F, Lazzarino M,
Rodeghiero F, Pizzolo G, Larizza L, Morra E.
Division of Hematology, Ospedale Niguarda, Piazza
Ospedale Maggiore 3, 20162-Milano, Italy.
roberto.cairoli@ospedaleniguarda.it
Distinct forms of tyrosine
kinase domain (TKD), juxtamembrane domain, exon 8,
and internal tandem duplication (ITD) mutations of
c-KIT, were observed in about 46% of core binding
factor leukemia (CBFL) patients. To evaluate their
prognostic significance, 67 adult patients with CBFL
were analyzed to ascertain the c-KIT mutation
status. In acute myeloid leukemia (AML) with
t(8;21), the presence of c-KIT TKD mutation at codon
816 (TKD(816)) was associated with a high white
blood cell count at diagnosis (median, 29.60 x
10(9)/L) and a higher incidence (33%) of
extramedullary leukemia (EML) during the course of
the disease. Data also showed that the TKD(816)
mutated patients (n = 12) had a significantly higher
incidence of relapse and a lower overall survival
(OS) at 24 months, compared with the 17 c-KIT
unmutated (c-KIT(-)) patients (90% vs 35.3%, P =
.002; 25% vs 76.5%, P = .006, respectively). No
difference in relapse incidence (P = .126) and OS (P
= .474) was observed between the c-KIT mutated other
than TKD(816) (n = 7) and the c-KIT(-) patients.
These findings indicate that c-KIT TKD(816) mutation
has a negative impact on the outcome of AML with
t(8;21).
PMID: 16384925 [PubMed - indexed for
MEDLINE]