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Multiple primary cutaneous melanomas in patients with FAMMM syndrome and sporadic atypical mole syndrome (AMS): What’s worse?

Multiple primär kutane Melanome bei Patienten mit FAMM-Syndrom und das sporadische typische Nävus-Syndrom: – Was wiegt schwerer?

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Summary

Atypical Mole Syndrome is the most important phenotypic risk factor for cutaneous melanoma, a malignancy that accounts for about 80 % of deaths from skin cancer. Since early diagnosis of melanoma is of great prognostic relevance, the identification of Atypical Mole Syndrome carriers (sporadic and familial) is essential, as well as the recommendation of preventative measures that must be undertaken by these patients.

We report two rare cases concerning patients with multiple primary skin melanomas in the setting of a familial and a sporadic syndrome of dysplastic nevi: the first patient is a 67-year-old patient with a history of multiple superficial spreading melanomas localized on his back. The second patient presented with multiple primary melanomas in advanced stage in the context of the so-called sporadic form of the syndrome of dysplastic nevi—AMS (atypical mole syndrome). In the first case, excision of the melanomas was carried out with an uneventful post-operative period. In the second case, disseminated metastases were detected, involving the right fibula, the abdominal cavity as well as multiple lesions in the brain. The patient declined BRAF mutation tests as well as chemotherapy or targeted therapies, and suffered a rapid deterioration in his general condition leading to death. We classified the second case as a sporadic form of the atypical mole syndrome, associated with one nodular and two superficial spreading melanomas.

There are no data in the literature to allow us to understand if, in patients with multiple primary melanomas, there is any difference in terms of prognosis between those with and without a family history of a similar phenotype. To answer this and other questions related to these rare cases, further studies with a significant number of patients should be carried out.

Zusammenfassung

Das atypische Nävus-Syndrom ist der wichtigste phänotypische Risikofaktor des kutanen Melanoms, welches für 80 % der Hautkrebsmortaliät verantwortlich zeichnet. Da die Frühdiagnostik des Melanoms von großer prognostischer Relevanz ist, ist die Erkennung der Träger des atpischen Nävus-Syndroms (sporadischer und familiärer Typ) essentiell wie auch die Präventivmaßnahmen der Patienten.

Wir berichten über zwei seltene Fälle mit multiplen primär kutanen Melanomen beim familiären und bei sporadischen atypischen Nävus-Syndrom. Der erste Patient ist ein 67-jähriger Patient mit multiplen superfiziellspreitenden Melanomen am Rücken. Der zweite Patient stellte sich mit multiplen fortgeschrittenen Melanomen beim sporadischen atypischen Nävus-Syndrom vor. Bei dem ersten Patienten wurde die komplette chirurgische Exzsion vorgenommen. Die postoperative Periode verlief problemlos. Beim zweiten Patienten wurden ein noduläres und zwei superfizielle-spreitende Melanome festgestellt. Die weiteren Untersuchungen ergaben eine disseminierte Metastasierung – und zwar an der rechten Fibula, intraabdominal und im Hirn. Der Patient lehnte die BRAF-Mutationsanalyse ab, ebenso wie die Chemooder Immuntherapie. Es kam zur raschen Befundverschlechterung mit Todesfolge.

In der Literatur finden sich keine Daten, die für unterschiedliche prognostische Aussichten bei Patienten mit multiplen primären Melanomen in Bezug auf das sporadische und familiäre atypische Nävus-Syndrom nahelegen. Hierfür wären weitere Studien mit größeren Patientenzahlen wünschenswert.

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Conflict of interest

The authors declare that there are no actual or potential conflicts of interest in relation to this article.

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Authors and Affiliations

  1. Policlinic for Dermatology and Venerology, Saint Kliment Ohridski University, Medical Faculty, University Hospital Lozenetz, Koziak street 1, 1407, Sofia, Bulgaria

    Georgi Tchernev

  2. Department General and Clinical Pathology, Medical Faculty, Trakia University Stara Zagora, Armeiska Str 11, 6000, Stara Zagora, Bulgaria

    Julian Ananiev MD, PhD

  3. Dermatology Department, University Hospital of Coimbra, Praceta Mota Pinto, 3000 075, Coimbra, Portugal

    José-Carlos Cardoso MD, PhD

  4. Department of Dermatology and Venereology, Medical University of Plovdiv, “Vasil Aprilov” blv. 15A, Plovdiv, Bulgaria

    Anastasiya Atanasova Chokoeva

  5. Department of General and Clinical Pathology, Medical Faculty, “Saint Kliment Ohridski University”, Koziak street 1, 1407, Sofia, Bulgaria

    Stanislav Philipov MD, PhD

  6. Department of Dermatology and Venerology, Trakia University, Medical faculty, Armeiska Street 11, 6000, Stara Zagora, Bulgaria

    Plamen Kolev Penev

  7. University of Rome “G. Marconi”, Rome, Italy

    Torello Lotti MD, MD (Hon)

  8. Department of Dermatology & Allergology, Hospital Dresden-Friedrichstadt, Academic Teaching Hospital of the Technical University of Dresden, Friedrichstrasse 41, 01067, Dresden, Germany

    Uwe Wollina MD

Authors
  1. Georgi Tchernev
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  2. Julian Ananiev MD, PhD
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  3. José-Carlos Cardoso MD, PhD
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  4. Anastasiya Atanasova Chokoeva
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  5. Stanislav Philipov MD, PhD
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  6. Plamen Kolev Penev
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  7. Torello Lotti MD, MD (Hon)
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  8. Uwe Wollina MD
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Correspondence to Georgi Tchernev.

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Tchernev, G., Ananiev, J., Cardoso, JC. et al. Multiple primary cutaneous melanomas in patients with FAMMM syndrome and sporadic atypical mole syndrome (AMS): What’s worse?. Wien Med Wochenschr 164, 302–307 (2014). https://doi.org/10.1007/s10354-014-0295-8

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  • DOI: https://doi.org/10.1007/s10354-014-0295-8

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