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[Clinical, histological and genetic correlations in melanocytic tumours with chromosomal rearrangements]. | LitMetric

[Clinical, histological and genetic correlations in melanocytic tumours with chromosomal rearrangements].

Ann Pathol

Service de biopathologie, centre Léon-Bérard, 28, promenade Léa-et-Napoléon-Bullukian, Lyon, France; Équipe labellisée Ligue contre le cancer, Inserm 1052, CNRS 5286, centre Léon-Bérard, Cancer Research Center of Lyon, université de Lyon, université Claude-Bernard Lyon 1, Lyon, France.

Published: February 2024

In some tumoral subtypes chromosomal translocations lead to an oncogenic chimeric protein acting as a tumorigenesis driver event. The main fusion model combines the promoter swapping of an inactivated tumor suppressor gene and a functional kinase that evades its regulatory system. The range of described fusions keeps growing in the 2023 WHO classification of melanocytic tumours. It is not limited to the group of Spitz tumours as previously but now extends to blue tumours and dermal tumours with a melanocytic phenotype. Molecular pathology helps detect these anomalies using clinical and morphological features. This analysis is essential as this strongly conditions the adapted local treatment of such tumours who are often overtreated.

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http://dx.doi.org/10.1016/j.annpat.2024.01.008DOI Listing

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