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Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson’s Disease and Asymptomatic Carriers of Related Genes: A Brief Report

Authors :
Christos Koros
Athina-Maria Simitsi
Anastasia Bougea
Nikolaos Papagiannakis
Roubina Antonelou
Ioanna Pachi
Efthalia Angelopoulou
Andreas Prentakis
Athena Zachou
Chrysa Chrysovitsanou
Ion Beratis
Stella Fragkiadaki
Dionysia Kontaxopoulou
Efthymia Eftymiopoulou
Evangelia Stanitsa
Constantin Potagas
Sokratis G. Papageorgiou
Efstratios Karavasilis
Georgios Velonakis
Vasilios Prassopoulos
Xenia Geronicola-Trapali
Leonidas Stefanis
Source :
Medicina, Vol 59, Iss 8, p 1360 (2023)
Publication Year :
2023
Publisher :
MDPI AG, 2023.

Abstract

Introduction: Previous epidemiological evidence has established the co-occurrence of malignant melanoma (MM) and Parkinson’s disease (PD). Shared molecular mechanisms have been proposed to be implicated in this relationship. The aim of the present study was to assess the prevalence of MM in patients with sporadic and genetic types of PD, as well as in asymptomatic carriers of PD-related genes. Methods: Data regarding past medical history and concomitant disease of 1416 patients with PD (including 20 participants with prodromal disease who phenoconverted to PD), 275 healthy controls (HCs) and 670 asymptomatic carriers of PD-related genes were obtained from the database of the Parkinson’s Progression Markers Initiative (PPMI). Focus was placed on information about a medical record of MM. We also retrieved data regarding the genetic status of selected PPMI participants with a positive MM history. Results: In total, 46 patients with PD reported a positive MM history. Concerning the genetic forms of PD, nine of these PD patients (2.47%) carried a Leucine Rich Repeat Kinase 2 (LRRK2) gene mutation (mainly the G2019S), while eight (4.49%) harbored a Glucocerebrosidase (GBA) gene mutation (mainly the N370S). No alpha-synuclein (SNCA) gene mutation was identified in patients with an MM history. The remaining 29 PD patients (3.5%) were genetically undetermined. In total, 18 asymptomatic carriers of PD-related genes had a positive medical history for MM: among them, 10 carried an LRRK2 gene mutation (2.69%) and 10 a GBA gene mutation (3.51%) (2 were dual carriers). MM history was identified for seven HCs (2.5%). Conclusions: We replicated the previously reported association between genetically undetermined PD (GU-PD) and MM. A correlation of LRRK2 mutations with the development of MM could not be verified in either symptomatic PD patients or asymptomatic carriers, implicating distinct pathogenetic mechanisms as compared to GU-PD. Importantly, despite the limited literature evidence on Gaucher disease, this study highlights for the first time the relatively high prevalence of MM among asymptomatic and symptomatic PD GBA mutation carriers, with potential clinical implications.

Details

Language :
English
ISSN :
16489144 and 1010660X
Volume :
59
Issue :
8
Database :
Directory of Open Access Journals
Journal :
Medicina
Publication Type :
Academic Journal
Accession number :
edsdoj.4ca33e9c30354f2a93f881b39dbf72dc
Document Type :
article
Full Text :
https://doi.org/10.3390/medicina59081360