Journal of cutaneous pathology · 2020
Novel LRRFIP2-RAF1 fusion identified in an acral melanoma: A review of the literature on melanocytic proliferations with RAF1 fusions and the potential therapeutic implications.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
LeBlanc Robert E, Lefferts Joel A, Baker Michael L, Linos Konstantinos D
Аннотация
A small subset of cutaneous melanomas harbor oncogenic gene fusions, which could potentially serve as therapeutic targets for patients with advanced disease as novel therapies are developed. Fusions involving RAF1 are exceedingly rare in melanocytic neoplasms, occurring in less than 1% of melanomas, and usually arise in tumors that are wild type for BRAF, NRAS, and NF1. We describe herein a case of acral melanoma with two satellite metastases and sentinel lymph node involvement. The melanoma had a concomitant KIT variant and LRRFIP2-RAF1 fusion. This constellation of molecular findings has not been reported previously in melanoma. We review the existing literature on melanocytic neoplasms with RAF1 fusions and discuss the potential clinical implications of this genetic event.
Предметные рубрики MeSH
Adaptor Proteins, Signal TransducingAftercareAntibodies, Monoclonal, HumanizedAntineoplastic Agents, ImmunologicalChemotherapy, AdjuvantFemaleHigh-Throughput Nucleotide SequencingHumansMargins of ExcisionMelanomaMiddle AgedOncogene Proteins, FusionParaneoplastic Syndromes, OcularProto-Oncogene Proteins c-rafSentinel Lymph NodeSkin NeoplasmsTreatment OutcomeCutaneous Malignant Melanoma