PMC1361803_01
PMC1361803_02
Conventional and molecular cytogenetic data of case 1 at recurrence. 3a: R-banded karyotype: arrows indicate structural clonal abnormalities. 3b: Partial R-banded details associated with partial Multiplex FISH results of each structural chromosomal abnormality. Painting chromosomes by M-FISH are showed in false color view with fluorescence profiles. 3c: Partial metaphase in situ hybridization with a chromosome 8 centromeric probe directly labelled FITC showing one normal chromosome 8 (fine arrow) and one der(8) (thick arrow). 3d: Partial metaphase in situ hybridization with a TP53 probe directly labelled Spectrum Orange (SO) and a chromosome 17 centromeric probe directly labelled FITC. This partial metaphase shows one normal chromosome 17 with both FITC and SO fluorescent signals (fine arrow) and one der(17) with an isolated FITC fluorescent signal (thick arrow) indicating a P53 gene deletion.
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F3
At recurrence, cytogenetic study showed an abnormal and complex karyotype [Figure 3a]. In line with the cytogenetic analysis, we carried out M-FISH [Figure 3b] and metaphase in situ hybridization with CEP 8 probe. The der(8)t(8;18) showed a likely duplication of the 8q11q12 region [Figure 3c]. Metaphase FISH with CEP17 and TP53 probes showed a TP53 deletion on der(17) identified by M-FISH [Figure 3d].
Conventional and molecular cytogenetic data of case 2 at diagnosis and recurrence. 4a: R-banded karyotype from initial tumor characterized by complex numerical and structural clonal abnormalities. Arrows indicate structural clonal aberrations. 4b: Partial R-banded details associated with partial Multiplex FISH results of each structural chromosomal abnormality. Painting chromosomes by M-FISH are showed in false color view with fluorescence profiles. 4c:Interphase in situ hybridization with a chromosome 8 centromeric probe directly labelled FITC from recurrent tumor showing over representation (10 signals) of centromeric region of chromosome 8 : nuc ish 8 cen (D8Z1x10).
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F4
At diagnosis, conventional cytogenetic study showed a complex hyperdiploid karyotype (modal number: 91) [Figure 4a]. M-FISH analysis specified complex structural chromosomal abnormalities [Figure 4b]. Overrepresentation (8 to 10 signals) of centromeric region of chromosome 8 was confirmed in 32% of interphase nuclei by in situ hybridization staining allowing us evoke a related clone (probably a doubled population) from initial tumor [Figure 4c].