Julia C. Thierauf, Stefan T. Kaluziak, Elizabeth Codd, Stacy N. Dybel, Soma Jobbagy, Rashi Purohit, Alex A. Farahani, Aikaterini Dedeilia, Vivek Naranbhai, Mai P. Hoang, Adam S. Fisch, Lauren Ritterhouse, Genevieve M. Boland, Jochen K. Lennerz, A. John Iafrate
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引用次数: 0
摘要
黏膜黑色素瘤(MM)是一种罕见的黑色素瘤亚型,具有侵袭性的临床病程。在皮肤黑色素瘤(CM)中,色素沉着的缺失和NRAS/KRAS突变的存在是表明侵袭性临床病程和较短总生存期的生物标志物。MM的类似数据缺失。我们提供了一组基因型MM患者的真实结果数据,并评估了色素沉着和NRAS/KRAS突变状态与预后的相关性。我们将病理报告和临床数据与MM患者的总生存期联系起来。此外,我们进行了临床整合的分子基因分型,并分析了与临床结果相关的实际治疗方案。我们确定了39例具有可用临床和分子数据的患者。无色性MM患者的总生存期明显缩短(p = 0.003)。此外,NRAS或KRAS突变的存在与较差的总生存率显著相关(NRAS或KRAS p = 0.024)。目前,尚不清楚CM中缺乏色素沉着和RAS突变是否与MM存在相同的预后相关性。在这里,我们分析了MM队列的结果测量,并确定两个已知的CM预后生物标志物实际上是MM的新预后指标。
Prognostic biomarkers for survival in mucosal melanoma
Mucosal melanoma (MM) is a rare subtype of melanoma with an aggressive clinical course. In cutaneous melanoma (CM), the absence of pigmentation and presence of NRAS/KRAS mutations are biomarkers indicating an aggressive clinical course with shorter overall survival. Similar data for MM are missing. We present the real-world outcome data in a cohort of genotyped MM patients and assessed the prognostic relevance of pigmentation- and NRAS/KRAS mutation status. We correlated pathological reports and clinical data with overall survival of patients with MM. Furthermore, we performed clinically integrated molecular genotyping and analyzed real world treatment regimens for covariates associated with clinical outcome. We identified 39 patients with available clinical and molecular data. Patients with amelanotic MM had a significantly shorter overall survival (p = .003). In addition, the presence of a NRAS or KRAS mutation was significantly associated with poor overall survival (NRAS or KRAS p = .024). Currently, it is unknown if the same prognostic relevance for the lack of pigmentation and RAS mutations in CM, exists in MM. Here we analyzed a cohort of MM for outcome measures and determined that two known prognostic biomarkers for CM are in fact novel prognosticators for MM.
期刊介绍:
Pigment Cell & Melanoma Researchpublishes manuscripts on all aspects of pigment cells including development, cell and molecular biology, genetics, diseases of pigment cells including melanoma. Papers that provide insights into the causes and progression of melanoma including the process of metastasis and invasion, proliferation, senescence, apoptosis or gene regulation are especially welcome, as are papers that use the melanocyte system to answer questions of general biological relevance. Papers that are purely descriptive or make only minor advances to our knowledge of pigment cells or melanoma in particular are not suitable for this journal. Keywords
Pigment Cell & Melanoma Research, cell biology, melatonin, biochemistry, chemistry, comparative biology, dermatology, developmental biology, genetics, hormones, intracellular signalling, melanoma, molecular biology, ocular and extracutaneous melanin, pharmacology, photobiology, physics, pigmentary disorders