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A novel translocation
(x;4)(p22.1;q32) in a child with malignant Schwannoma
A. M. Cappellano, M. T. Grande, S. N. Oliveira, L. J. G. Zambaldi, M. Araujo,
F. A. Freitas, I. A. Cardinalli, S. R. Brandalise, S. S. Aguiar
Centro Infantil Boldrini, Campinas- Sao Paulo, Brazil
Background. Malignant Schwannoma is a rare entity that represents 2% of
the peripheral nerve sheath tumors.
It usually arises from limbs, paravertebral areas or head and neck.
It has an aggressive biological behavior with local infiltration and
hematogeneous metastases.
Multiple cytogenetics aberrations and structural anomalies have been
demonstrated by some authors.
A novel unreported translocation t(X;4)(p22.1;q32) in a 6 years old boy with
malignant paravertebral Schwannoma, without prior exposure to radiotherapy or
chemotherapy was diagnosed and demonstrated.
Methods. Fresh tumor was minced and digested with Trypsin-EDTA 1:250 for
15 minutes at 37oC.
The suspended material was seeded into culture flasks with RPMI medium, 20%
fetal calf serum and antibiotics and incubated in 5% CO2 at 37oC.
When mitotic activity was identified the cells were harvested and also the tumor
within 11 days.
Cells were treated with Colquicine 16uL/mL for 3 hours.
A hypotonic solution of KCl 0,075M was used for 15 minutes at 37oC.
The total of 20 G-banded metaphases cells were analyzed, according to ISCN
nomenclature.
Results. All the twenty investigated metaphases demonstrated a balanced
translocation (X;4)(p22.1;q32) as a single aberration.
Although additional molecular breakpoint characterization at 4q32 and Xp22.1 is
necessary, a PDGF-C (Platelet-derived Growth Factor C) and FIGF (c-fos-induced
growth factor) genes were localized, respectively, in these regions and their
involvement seems plausible.
Conclusion. Cloning and characterization of the breakpoint region of this
tumor may contribute to the discovery of new genes that are important in this
rare disease.
Copyright 2004 American Society of Clinical Oncology All rights
reserved worldwide.
Source: http://www.asco.org/ac/1,1003,_12-002636-00_18-0026-00_19-003497,00.asp
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