2009 Vienna - European Society of Human Genetics

Cancer cytogenetics
(range: 3-19 vs. 2-31), and highest in AAIII (mean±SEM: 14.3±3.3,
range: 2-47). The following imbalances were identified to be frequent in
AAIII and more frequent in AII-short as compared to AII-long: Gain on
7q (AAIII: 67%, AII-short: 67%, AII-long: 45%), loss on 10q (AAIII: 50%,
AII-short: 44%, AII-long: 18%), loss on 14q (AAIII: 50%, AII-short: 33%,
AII-long: 18%), loss on 19q (AAIII: 58%, AII-short: 44%, AII-long: 27%),
gain on 20p (AAIII: 42%, AII-short: 33%, AII-long: 18%), gain on 20q
(AAIII: 42%, AII-short: 22%, AII-long: 9%), and loss on 22q (AAIII: 33%,
AII-short: 22%, AII-long: 0). In summary, AII from patients with short RFI
seem to contain a higher average number of genomic imbalances per
tumor than AII from patients with a long RFI. Furthermore, our data suggest
that the presence of gains on 7q, 20p and 20q as well as losses on
10q, 14q, 19q and 22q may be linked to poor prognosis in AII.
P07.04
Detection of a High incidence of chromosomal Rearrangements
in the centromeric Regions of gastric adenocarcinoma subjects
from coimbatore south india
P. Manikantan, V. Balachandar, K. Sasikala, B. Lakshmankumar, S. Mohanadevi;
Bharathiar University, Coimbatore, India.
Gastric cancer is the third most frequent type of neoplasia and the
second most important cause of cancer-related death in the world.. To
evaluate chromosomal aberrations implicated in gastric carcinogenesis,
we analyzed 24 samples of gastric adenocarcinoma by fluorescence
in situ hybridization using a chromosome 8 a-satellite probe and
by direct chromosomal analysis techniques. Trisomy 8 was the main
finding of this study, observed in all cases. There was no significant difference
between chromosome 8 ploidy and localization, stage, or histological
type of adenocarcinoma in the experimental subjects. The high
incidence of alterations we found in chromosome 8 may be a regional
characteristic, related to the high incidence of this neoplasm in gastric
adenocarcinoma and a strong influence of external factors, such as
food habits. This aberration may comprise a cytogenetic subgroup of
this neoplasm. Additional investigations are necessary to confirm the
involvement of chromosome 8 and to identify genes in this chromosome
related to gastric carcinogenesis. An increased copy number of
chromosome 8 needs to be better investigated in other stages of gastric
neoplasias, to clarify whether it is an etiologic cause of malignant
transformation or a consequence of the proliferation process.
P07.05
the development of HPV cervical cancer is associated with the
involvement of multiple genes
S. N. Kokkinou, K. Tzanidakis, A. Lindou;
Cytogenetic Unit, Sismanoglion General Hospital, Halandri, Greece.
Introduction: Cervical cancer is a worldwide disease and infection with
high-risk human papillomavirus(HPV)is the major risk factor of it’s development.
Aim Of The Study: In cervical cancer of HPV infected women the
ATM,p53,EGFR,HER-2/TOP2A genes,are involved and affect the outcome
of the disease.
Recently two human telomerase gene locus,the hTERT(5p15.2)and
hTERC(3q26)play a critical role.
Patients: Twenty women 22-51ys were transferred to Cytogenetic unit.
All they had a family history of breast/ovarian cancer and they had a
chronic cervical inflammation.
They got a new PAPtest looking for the presence of oncogenic HPV
infection.
Methods: Peripheral blood lymphocytes(PB )were cultured using
standard techniques.Thirty GTG banded metaphases were analyzed
(ISCN2005). For FISH we used 2 panel probes(1)LSI HER-1,HER2/
TOP2A/
CEP17,LSI p53,ATM(VYSIS).
(2)hTERT(5p15)/EGRI(5q31)and hTERC(3q26),C-MYC(8q24),SE
triple color probe(KREATECH).
Two hundred interphase nuclei were counted for any single probe in
all.
Results: High riskHPV16/18 was detected in the 2youngest pts,the intermediate
risk 35/39in10 and the low risk type 6/11in 8.
The karyotypes looked normal.
In all there were circulating cells with amplification of EGFR,HER-2/
TOP2A gene,and deletion of p53/ATM gene.
From the 2 nd panel of probes there was amplified C-MYC,3q26 and
5p15.2region.
Conclusions: (1)The presence of amplified genes in the PB lymphocytes
suggest that there are malignant circulating cells.
(2)During their 2ys follow-up none has developed a definite cancer so
a permanent oncogenic stimulus or other co-factors are required for
neoplastic transformation.
(3)The gains of 5p15.2 and 3q26 are interesting given the presence
of the hTRand hTERT genes,which can be the target for amplification
during the transformation of human malignacies.
P07.06
mosaic isochromosome Xp in a girl with short stature and bone
marrow failure
C. Morerio, E. Tavella, A. Casalaro, C. Dufour, C. Panarello, E. Tassano;
IRCCS Istituto G.Gaslini, Genova, Italy.
A 18-month girl, second daughter of unrelated parents, was diagnosed
with bone marrow (BM) failure and treated with cyclosporine ad steroids,
with partial response. At 6 years of age, she was referred to
us for anemia, low white bood cell and platelet counts. BM aspirate
showed no blasts or myelodysplasia; bone biopsy showed reduced
cellularity and megakaryocyte number. Her height was