BRAF mutations occur in up to 50% of melanomas. Mutations in the BRAF gene directly influence the patient’s treatment because several inhibitors are available that only target BRAFV600 mutations. Herein, we describe two cases of patients with metastatic melanomas, each carrying a ‘nonstandard’ mutation in the BRAF gene: BRAFK601E and BRAFG466E, respectively. The first patient was treated with a MEK inhibitor and the second one with ipilimumab. However, not all BRAF mutations result in increased BRAF kinase activity, and clinical data for ‘nonstandard’ mutations, such as those described in our case report, are sparse. Therefore, treatment with MEK inhibitors can be helpful in cases where BRAF mutations result in increased activity, whereas immune checkpoint inhibitors might be used in cases where the mutations lead to activity levels below those of the wild type.
What's already known about this topic?Naevi are known to change in colour and size during pregnancy and melanoma is the most common type of cancer in pregnant women.
What does this study add?The clinical features, dermoscopic images and histopathological appearance of two slowly growing melanomas detected by sequential digital dermoscopy imaging during pregnancy are reported.
AbstractWhether or not pregnancy favours the occurrence and growth of melanoma is a source of controversy in the literature. Several case reports have shown dramatic courses of diseases in pregnancy. We present a case of a 36-year-old woman with multiple naevi with one melanoma detected in 2009 in the first trimester and a second primary melanoma in 2010 in the third trimester of her pregnancy. Both lesions have been present for at least 5 years and have been interpreted as dysplastic naevi. Because of their growth during pregnancy they were removed. No metastatic disease has been found between 2010 and early 2016. This case shows the difficulty of detecting melanomas in pregnancy, particularly when they mimic dysplastic naevi in women with multiple naevi, who are at higher risk. Therefore, we suggest that pregnant women with numerous naevi should be precautious of any changes of their naevi in size, shape and colour. Every suspicious lesion should be either excised or documented/monitored carefully, e.g. with sequential digital dermoscopy imaging.
Background: Mucosal melanoma of the oral cavity is a rare entity and accounts for less than 1–3% of all melanomas. Contrary to cutaneous melanoma, primary oral melanoma more commonly harbors mutations in c-KIT. Methods: A 64-year-old man presented with asymptomatic, multiple, brown-to-black macules in the oral cavity. A biopsy was taken and histopathology exhibited mucosal melanoma. In molecular analysis, a c-KIT mutation was proven and a CT scan revealed pulmonary metastases. Due to the multifocality of the lesions, the metastases, and the mutation status, a therapy with imatinib was initiated. Results: After 1 year of therapy, progressive disease in the lung was noticed. Therefore, the therapy was switched to a PD-1 antagonist and a CTL-4 antibody. Conclusions: Our case suggests that imatinib may be considered as first-line treatment for both locally advanced and distant primary multifocal oral melanoma, for which surgery or radiotherapy of the primary tumor is impossible.
Wir berichten von 3 Patientenfällen mit akralen Hyperpigmentierungen, die niedergelassene Dermatologen an unserer Vorsorgeambulanz zum Ausschluss eines malignen Melanoms vorstellten.
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