Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson’s Disease and Asymptomatic Carriers of Related Genes: A Brief Report
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
Affiliations
Christos Koros
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Athina-Maria Simitsi
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Anastasia Bougea
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Nikolaos Papagiannakis
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Roubina Antonelou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Ioanna Pachi
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Efthalia Angelopoulou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Andreas Prentakis
Nuclear Medicine Unit, Attikon Hospital, 12462 Athens, Greece
Athena Zachou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Chrysa Chrysovitsanou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Ion Beratis
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Stella Fragkiadaki
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Dionysia Kontaxopoulou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Efthymia Eftymiopoulou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Evangelia Stanitsa
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Constantin Potagas
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Sokratis G. Papageorgiou
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
Efstratios Karavasilis
Research Unit of Radiology, 2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, “Attikon” University General Hospital, 11528 Athens, Greece
Georgios Velonakis
Research Unit of Radiology, 2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, “Attikon” University General Hospital, 11528 Athens, Greece
Vasilios Prassopoulos
Nuclear Medicine Unit, IASO Hospital, 15123 Athens, Greece
Xenia Geronicola-Trapali
Nuclear Medicine Unit, Attikon Hospital, 12462 Athens, Greece
Leonidas Stefanis
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece
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.
