12th Congress of the European Hematology ... - Haematologica

ed to a favorable outcome. Biallelic deletion of 13q14.3 (13q14x2) alone
or concomitant 13q14x1/13q14x2 has been observed in about 10-20%
of patients with CLL. It has been scarcely evaluated in the literature.
Aim. We analyzed the clinical, cytogenetic and FISH (fluorescence in situ
hybridization) characteristics of 9 patients with 13q14x2 in order to evaluate
its prognostic significance. Patients and Methods. From 1997 to 2006,
a total of 100 patients with diagnosis of CLL were cytogenetically and
FISH studied in our Institution. Among them, 9 cases (5 males; mean age
63 years; range 47-77 years) showed 13q14x2. Immunophenotypic
analysis showed expression of pan-B antigen (CD19, CD20, CD22) with
co-expression of CD5 and CD23. Rai clinical stages were: I-II: 5; III-IV:
4. Eight patients were under treatment, the remaining one did not accept
to be treated. Five patients have already died at the moment of this
analysis. Chromosome studies were performed on stimulated peripheral
blood lymphocytes. G-banded technique was used. FISH analysis for
trisomy 12, and deletions of D13S319 at 13q14 band, ATM at 11q22.3
and TP53 at 17p13 (VYSIS) was carried out according to standard protocols.
Results. Six out of 9 patients with CLL showed normal karyotypes
and 13q14x2 alone or concomitant 13q14x1/13q14x2. Mean time from
diagnosis to treatment for this group was 26 months (range 3-61
months). The remaining three had other genomic alterations: trisomy 12
(5.5% of cells), i(17)(q10) and complex karyotype. The last two patients
were studied at the progression of the disease after more than ten years
of stable disease. The patient with +12 was studied at diagnosis and had
a poor outcome with a very short survival (4 months).Two cases showed
only biallelic deletion 13q14 (58% y 88% of cells). The other seven cases
(78%) had concomitant 13q14x1/13q14x2, being biallelic clones larger
than monoallelic ones in 5 cases (5/7:71.4%). Simultaneously, we used
the defined set of hierarchical FISH risk categories to compare FISH
results by stable versus progressive disease. FISH was abnormal for 27/46
(58.7%) patients with stable disease and 47/54 (87%) cases with progressive
disease (p