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TERT and AURKA Gene Copy Number Gains Enhance the Detection of Acral Lentiginous Melanomas by Fluorescence in Situ Hybridization Alba Diaz, Joan Anton Puig-Butillé, Alexandra Valera, Concha Muñoz, Dolors Costa, Adriana Garcia-Herrera, Cristina Carrera, Francesc Sole, Josep Malvehy, Susana Puig, Llucia Alos The Journal of Molecular Diagnostics Volume 16, Issue 2, Pages (March 2014) DOI: /j.jmoldx Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
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Figure 1 Two examples of ALMs showing different gene alterations by FISH. A: A large nonpigmented melanocytic tumor arising on acral skin, with marked associated acanthosis and elongated rete ridges. Case 4. H&E stain. B: The same lesion at a higher magnification. Melanocytes in the dermis are predominantly epithelioid and show moderate atypia. A lentiginous proliferation of malignant melanocytes in the dermal–epidermal junction is also evident. H&E stain. C: FISH image from the same case shows MYB loss (gold signal) relative to CEP6 (aqua signal) with the commercial four-color probe set. D: An ulcerated ALM arising in the sole of a 40-year-old man, with moderate pigmentation. Case 25. H&E stain. E: The same lesion at a higher magnification. Nests of malignant melanocytes with marked pleomorphism. H&E stain. F: FISH image from the same case shows TERT amplification (green signal) relative to the control gene MCTP1 (red signal). Original magnification: ×40 (A and D); ×200 (B and E); ×1000 (C); ×2000 (F). The Journal of Molecular Diagnostics , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
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Figure 2 Two examples of ALMs in which chromosomal aberrations were detected also in the in situ portion by FISH. A: An ALM arising in the palm of a 58-year-old man shows a marked lentiginous proliferation pattern at the dermal–epidermal junction. Case 11. H&E stain. B: High-power magnification highlights the typical lentiginous proliferation of atypical melanocytes at the border of the tumor. H&E stain. C: In a FISH image from the same case, large nuclei at the dermal–epidermal junction show TERT amplification (green signal) relative to the control gene MCTP1 (red signal). D and E: Histological section of another ALM (Case 27) shows marked epidermal acanthosis (D) and a continuous proliferation of atypical melanocytes adopting a lentiginous pattern (E). H&E stain. F: A FISH image from the same case shows amplification of CCND1 (green signal) in the invasive portion, which was also detected in scattered large nuclei at the dermal–epidermal junction. Original magnification: ×40 (A and D); ×200 (B and E); ×1000 (C and F). The Journal of Molecular Diagnostics , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
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Figure 3 Example of an AN. A: Low-power magnification reveals nonatypical melanocytic proliferation, with evident maturation. H&E stain. B: A FISH image from the same case, hybridized with the commercial four-color probe set, illustrates a normal chromosomal profile. Original magnification: ×40 (A); ×1000 (B). The Journal of Molecular Diagnostics , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
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Figure 4 Example of an ALM with CCND1 alteration (Case 9). A: Histology. H&E stain. B: Immunohistochemistry reveals CCND1 protein overexpression. C: FISH analysis reveals CCND1 gene (green signals) amplification. Original magnification: ×200 (A and B); ×1000 (C). The Journal of Molecular Diagnostics , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
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