Objective: The aim of the present study was to assess the prevalence of malignant melanoma (MM) in sporadic and genetic Parkinson’s disease (PD) patients and asymptomatic carriers of PD genes.

Background: The co-occurrence of PD and MM has been established in former epidemiological studies. Shared molecular pathways have been implicated in this association. The impact of various PD-related genes on the development of MM in PD patients is beginning to be explored.

Method: Data used in the preparation of this article [Past medical history and concomitant disease data of 1110 PD patients (including 20 prodromal participants who phenoconverted to PD), 232 Healthy Controls (HC) and 670 asymptomatic carriers of PD-related genes] were obtained from the Parkinson’s Progression Markers Initiative (PPMI) database (www.ppmi-info.org/data). For up-to-date information on the study, visit www.ppmi-info.org. We focused on information regarding a medical record of MM. Moreover, we retrieved data on the genetic status of selected PPMI participants with a positive MM history.

Results: A total of 40 PD patients reported a positive history for MM (3.6 % of PD). As far as genetic PD forms are concerned, 9 of these patients harbored a Leucine Rich Repeat Kinase 2 (LRRK2) mutation (2.57% of LRRK2 PD) (mainly the G2019S) and 8 a Glucocerebrosidase (GBA) mutation (4.49% of GBA PD) (mainly the N370S). None carried a SNCA mutation. The remaining 23 PD patients were genetically undetermined. 18 asymptomatic carriers of PD related-genes also had a positive medical record for MM: 8 of those participants harbored a LRRK2 mutation, 8 a GBA mutation while 2 were dual carriers (2.69% and 3.51% respectively). A positive history of MM was reported for 5 HC (2.16%). The aforementioned PD and asymptomatic subgroups differed from HC statistically regarding a positive history of MM.

Conclusion: We were able to replicate the already reported association of PD with MM. Although the presence of LRRK2 mutations in PD patients has been implicated in an increased risk for MM in a few previous studies, it appears that asymptomatic LRRK2 carriers might also be vulnerable. Notably, in spite of limited literature data on Gaucher’s disease, this is the first study to highlight the high prevalence of MM in symptomatic PD and asymptomatic GBA mutation carriers with possible clinical implications.

References: [1] Niemann N, Billnitzer A, Jankovic J. Parkinson’s disease and skin. Parkinsonism Relat Disord. 2021 Jan;82:61-76.
[2] Hassin-Baer S, Laitman Y, Azizi E, Molchadski I, Galore-Haskel G, Barak F, Cohen OS, Friedman E. The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel. J Neurol. 2009 Mar;256(3):483-7.
[3] Landgren O, Turesson I, Gridley G, Caporaso NE. Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease. Arch Intern Med. 2007 Jun 11;167(11):1189-94.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/double-trouble-association-of-malignant-melanoma-with-sporadic-and-genetic-forms-of-parkinsons-disease-and-asymptomatic-carriers-of-related-genes-in-the-ppmi-study/