Emi Dika 1 , Giulia Veronesi 1 , Annalisa Altimari 2 , Mattia Riefolo 2 , Giulia Maria Ravaioli 1 , Bianca Maria Piraccini 1 , Martina Lambertini 1 , Elena Campione 3 , Elisa Gruppioni 2 , Michelangelo Fiorentino 2 , Barbara Melotti 4 , Manuela Ferracin 5 , Annalisa Patrizi 1 Show Affiliations »
Abstract
OBJECTIVES: Malignant acral melanoma (AM) is relatively infrequent in white patients. Molecular investigations have returned variable results regarding the mutational pattern. We sought to describe the mutation profile and clinicopathologic features of AM. METHODS: We investigated BRAF, KIT, and NRAS mutational status in a series of 31 AM samples from white patients. RESULTS: Nodular melanoma was the most common histopathologic subtype (48.4%), followed by acral lentiginous melanoma (25.8%) and superficial spreading melanoma (25.8%). BRAF, KIT, and NRAS mutational rates were 12.9%, 17.2%, and 30.0%, respectively. We observed significant associations between KIT mutational status and a thinner Breslow thickness compared with wild-type (WT) status (P = .002), NRAS mutation status and younger age compared with WT. In patients presenting at least one mutation, triple-WT patients presented metastases most frequently. CONCLUSIONS: Although these data represent preliminary results, better knowledge of tumor biology and prognosis of AM can support the clinical approach and follow-up. © American Society for Clinical Pathology, 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
OBJECTIVES: Malignant acral melanoma (AM) is relatively infrequent in white patients . Molecular investigations have returned variable results regarding the mutational pattern. We sought to describe the mutation profile and clinicopathologic features of AM. METHODS: We investigated BRAF , KIT , and NRAS mutational status in a series of 31 AM samples from white patients . RESULTS: Nodular melanoma was the most common histopathologic subtype (48.4%), followed by acral lentiginous melanoma (25.8%) and superficial spreading melanoma (25.8%). BRAF , KIT , and NRAS mutational rates were 12.9%, 17.2%, and 30.0%, respectively. We observed significant associations between KIT mutational status and a thinner Breslow thickness compared with wild-type (WT) status (P = .002), NRAS mutation status and younger age compared with WT. In patients presenting at least one mutation, triple-WT patients presented metastases most frequently. CONCLUSIONS: Although these data represent preliminary results, better knowledge of tumor biology and prognosis of AM can support the clinical approach and follow-up. © American Society for Clinical Pathology, 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Entities: Disease
Gene
Species
Keywords:
zzm321990 BRAFzzm321990 ; zzm321990 KITzzm321990 ; zzm321990 NRASzzm321990 ; Acral lentiginous melanoma; Genetic; Melanoma; Metastases; Mutations; Pathology; Prognosis
Mesh： See more »
Substances： See more »
Year: 2020
PMID： 32017841 DOI： 10.1093/ajcp/aqz209
Source DB: PubMed Journal: Am J Clin Pathol ISSN： 0002-9173 Impact factor: 2.493