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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin

Fig. 2

Clinical and molecular data of CLL/MM collision tumor. a Pedigree of patient’s family. The proband is indicated by a black arrow. b Constitutional patient karyotype showed the t(12;17)(p13;p13) in all metaphases analyzed [20]. The 12 and 17 derivative chromosomes are indicated by red arrows. c Interphase FISH shows ATM monoallelic deletion (red signal referred to target gene and green signal referred to centromere 11). The abnormal and normal nucleus are indicated by white arrows. d Metaphase FISH of the 13q14 region (D13S319) (red signal) and the RB1 gene (green signal). The arrows indicate the abnormal derivative chromosome 13 with loss of D13S319 region, and the normal chromosome 13. e Interphase FISH of the 13q14 region (D13S319) (red signal) and the RB1 gene (green signal). The white arrows show a nucleus with loss of both D13S319 region and RB1 gene, and a nucleus without deletion. f Nucleotidic sequence of BRAF (exon 15) with hot-spot mutation (p.V600E) on melanoma lesion (black arrow). g Nucleotidic sequence of TERT promoter mutation (1–57 A > C) on melanoma lesion (black arrow)

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