The prevalence of malignant melanoma in adults with mastocytosis and adnexal skin tumours: a case-control study

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Background: The prevalence of malignant melanoma appears to be increased in patients with mastocytosis,
a clonal mast cell disease. However, it is unclear whether this is a causal association or rather resultant
of increased surveillance. Comparison with a representative control population is therefore important to
reduce potential detection bias. This study aimed to investigate the prevalence of melanoma in adults with
mastocytosis, and compare this to adnexal skin tumours.
Methods: The co-occurrence of melanoma and mastocytosis was determined using the Dutch database for
pathology reports (PALGA). Patients with adnexal skin tumours were used as controls that were matched for
age and sex. A second retrospective cohort of adult patients with mastocytosis according to WHO-criteria
was created from a large referral centre for mastocytosis to confirm the results from PALGA and identify
potential disease-related risk factors for melanoma in this specific population. The prevalence of melanoma
in the aforementioned groups were compared to prevalence of melanoma in the general Dutch population as
retrieved from the CONCORD data.
Results: The prevalence of melanoma in the PALGA mastocytosis cohort (N=3,653) was 1.6% versus 3.0%
in the control cohort of with adnexal skin tumours (N=3,705). Melanoma in situ and synchronous detection
of melanoma were more common in mastocytosis. In a second cohort of 269 mastocytosis patients in our
centre, 3.0% had melanoma. The prevalence rate ratios were 158.8–297.4 per 10,000 mastocytosis cases and
299.6 per 10,000 for adnexal skin tumors, which was approximately 5–10× higher than the general Dutch
population among mastocytosis patients and 10× higher among adnexal tumours.
Conclusions: The prevalence of melanoma is increased in mastocytosis as well as in adnexal tumours
compared to pre-existent data from the general population. These results suggest that enhanced detection
might play a role due to more frequent skin surveillance, also known as Berkson’s bias. However, until
more is known about the underlying pathophysiological mechanisms, adults with mastocytosis and adnexal
tumours should be counselled on the risk of melanoma and self-screening.
Original languageEnglish
Number of pages8
JournalAnnals of Cancer Epidemiology
Publication statusPublished - 10 Feb 2022

Bibliographical note

This work was supported by E.C. van den Broek PhD by means of technical assistance with the PALGA database. The authors would also like to thank L. Chaker, MD, PhD, for her advice on the statistical analysis.

© Annals of Cancer Epidemiology. All rights reserved.


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