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Next generation sequencing revealing TP53 mutation as potential genetic driver in dermal deep-seated melanoma arising in giant congenital nevus in adult patients: a unique case report and review of the literature.
J Cutan Pathol. 2020 Jul 09 [Online ahead of print]JC

Abstract

Melanoma in giant congenital nevus (M-GCN) is a rare and potentially lethal neoplasm. In children M-GCN appears as a dermal/deep-seated melanoma (DDM-GCN) with histopathologic features difficult to distinguish from proliferative nodules (PNs-GCN). DDM-GCN in adults is an anecdotal entity and only 8 cases have been described and genetically characterized. We report the first case of DDM-GCN in a 34-year-old man characterized with a large-panel next-generation sequence (NGS) highlighting a TP53 mutation with a UV-signature (C > T substitution) in DDM but not in PNs-GCN and GCN. Curiously, DDM showed an aberrant p16 overexpression without detection of CDKN2A mutation at NGS. In line with previous studies, it supports a different pathway in children and adults: UV-induced mutations may be involved in the latter not only by CDKN2A but also by TP53 mutations, with a potentially confusing over-expression of p16-protein. Besides, even if this data needs to be confirmed in larger cases series, our results show that NGS could be an additional genetic diagnostic tool in DDM-GCN. This article is protected by copyright. All rights reserved.

Authors+Show Affiliations

Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Breast Surgical Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Oncology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Dermatology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Dermatology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.Pathology Unit, S.Orsola Malpighi Hospital, University of Bologna, Italy.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32643812

Citation

Ricci, Costantino, et al. "Next Generation Sequencing Revealing TP53 Mutation as Potential Genetic Driver in Dermal Deep-seated Melanoma Arising in Giant Congenital Nevus in Adult Patients: a Unique Case Report and Review of the Literature." Journal of Cutaneous Pathology, 2020.
Ricci C, Ambrosi F, Grillini M, et al. Next generation sequencing revealing TP53 mutation as potential genetic driver in dermal deep-seated melanoma arising in giant congenital nevus in adult patients: a unique case report and review of the literature. J Cutan Pathol. 2020.
Ricci, C., Ambrosi, F., Grillini, M., Serra, M., Melotti, B., Gruppioni, E., Altimari, A., Fiorentino, M., Dika, E., Lambertini, M., & Corti, B. (2020). Next generation sequencing revealing TP53 mutation as potential genetic driver in dermal deep-seated melanoma arising in giant congenital nevus in adult patients: a unique case report and review of the literature. Journal of Cutaneous Pathology. https://doi.org/10.1111/cup.13802
Ricci C, et al. Next Generation Sequencing Revealing TP53 Mutation as Potential Genetic Driver in Dermal Deep-seated Melanoma Arising in Giant Congenital Nevus in Adult Patients: a Unique Case Report and Review of the Literature. J Cutan Pathol. 2020 Jul 9; PubMed PMID: 32643812.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Next generation sequencing revealing TP53 mutation as potential genetic driver in dermal deep-seated melanoma arising in giant congenital nevus in adult patients: a unique case report and review of the literature. AU - Ricci,Costantino, AU - Ambrosi,Francesca, AU - Grillini,Marco, AU - Serra,Margherita, AU - Melotti,Barbara, AU - Gruppioni,Elisa, AU - Altimari,Annalisa, AU - Fiorentino,Michelangelo, AU - Dika,Emi, AU - Lambertini,Martina, AU - Corti,Barbara, Y1 - 2020/07/09/ PY - 2020/04/10/received PY - 2020/06/30/revised PY - 2020/07/01/accepted PY - 2020/7/10/entrez KW - TP53 mutation KW - giant congenital nevus KW - melanoma KW - melanoma arising in giant congenital nevus KW - proliferative nodules arising in giant congenital nevus JF - Journal of cutaneous pathology JO - J. Cutan. Pathol. N2 - Melanoma in giant congenital nevus (M-GCN) is a rare and potentially lethal neoplasm. In children M-GCN appears as a dermal/deep-seated melanoma (DDM-GCN) with histopathologic features difficult to distinguish from proliferative nodules (PNs-GCN). DDM-GCN in adults is an anecdotal entity and only 8 cases have been described and genetically characterized. We report the first case of DDM-GCN in a 34-year-old man characterized with a large-panel next-generation sequence (NGS) highlighting a TP53 mutation with a UV-signature (C > T substitution) in DDM but not in PNs-GCN and GCN. Curiously, DDM showed an aberrant p16 overexpression without detection of CDKN2A mutation at NGS. In line with previous studies, it supports a different pathway in children and adults: UV-induced mutations may be involved in the latter not only by CDKN2A but also by TP53 mutations, with a potentially confusing over-expression of p16-protein. Besides, even if this data needs to be confirmed in larger cases series, our results show that NGS could be an additional genetic diagnostic tool in DDM-GCN. This article is protected by copyright. All rights reserved. SN - 1600-0560 UR - https://www.unboundmedicine.com/medline/citation/32643812/Next_generation_sequencing_revealing_TP53_mutation_as_potential_genetic_driver_in_dermal_deep-seated_melanoma_arising_in_giant_congenital_nevus_in_adult_patients:_a_unique_case_report_and_review_of_the_literature L2 - https://doi.org/10.1111/cup.13802 DB - PRIME DP - Unbound Medicine ER -
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