Portada Simposios - Supplements - Haematologica

XLII Reunión Nacional de la AEHH y XVI Congreso de la SETH. Simposios
253
or high-grade lymphomas. Conversely, deletions
10q22-q24, gains of 3q and –20 were reported in
virtually all subtypes of B-cell NHL 15 .
FISH and CGH studies showed that many patients
with MCL may harbor cryptic chromosome rearrangements,
especially sub-microscopic deletions 16,17 .
In a recent study performed in our laboratories 18
the cytogenetic profile of 42 cases of MCL was compared
with the results of interphase FISH investigations
using 6q21, 9p21, + 12, 13q14 and 17p13
probes. In general FISH confirmed the interpretation
of the karyotype in all cases and disclosed cryptic chromosome
deletions in a sizeable fraction of cases.
One patient (2,4 %) was found with a cryptic
9p21 deletion by FISH. Two cases (4,8 %) had a
6q21 deletion at CCA and at FISH analysis; + 12
was found in three cases by CCA plus nine by FISH
(28.6 %); 13q14 deletion was found in six cases by
CCA plus 16 by FISH (52.4 %), 17p13 deletion in
three cases by CCA plus 8 by FISH (26.2 %). A
13q14 deletion was the only chromosome lesion
that occurred in addition to BCL1 involvement in
two cases; 17p13 deletion represented an isolated
additional anomaly in one case, whereas total/partial
trisomy 12 never occurred as the sole additional
chromosome change.
Dual color FISH experiments in two patients having
BCL1 rearrangement as well as concomitant
13q14, 17p13, 6q21 deletions and + 12, showed
BCL1 to be associated with 13q14 and 17p13 deletion
in all the cells. To the contrary, a significant
fraction of cells was shown to carry BCL1 rearrangement
without + 12 and 6q21 deletion in the two
analyzed cases.
The presence of sub-microscopic deletions of
13q14 in lymphoid neoplasias carrying the t(11;14)
as well as in small lymphocytic lymphoma/chronic
lymphocytic leukemia (SLL/CLL) was previously reported
at a 50-70 % incidence 19-21 . Because an approximate
8-10 % incidence was found for this deletion
in virtually all subtypes of NHL it is likely that
the loss of DNA material in this region may have an
important pathogenetic role in CD5-positive/B-cell
proliferations.
Total/partial trisomy 12, and 17p13/p53 deletions
were associated with an inferior prognosis. The
prognostic significance of p53 overexpression, deletions
and mutations in MCL was previously documented
by immunohistochemistry, by cytogenetics
and by molecular methods 9,22-24 . The possibility
should also be considered that the involvement of
other genes on a structurally abnormal 17p may
have a correlation with the clinical phenotype 25,26 .
Trisomy 3q and 9p21(p16-p15) submicroscopic
deletion were associated with the blastoid variant
of MCL. The presence of a complex karyotype predicted
for a shorter survival and maintained its prognosic
significance in multivariate analysis in a
study 15 . Recently, a high incidence of 11q22-23 deletions
were reported in MCL, pointing to a possible
leukemogenic role for the ATM gene 27 .
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