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BRAF V600E mutational load as a prognosis biomarker in malignant melanoma.

BRAF V600E突变负荷作为恶性黑色素瘤的预后生物标志物。

  • 影响因子:3.02
  • DOI:10.1371/journal.pone.0230136
  • 作者列表:"Sevilla A","Morales MC","Ezkurra PA","Rasero J","Velasco V","Cancho-Galan G","Sánchez-Diez A","Mujika K","Penas C","Smith I","Asumendi A","Cortés JM","Boyano MD","Alonso S
  • 发表时间:2020-03-13
Abstract

:Analyzing the mutational load of driver mutations in melanoma could provide valuable information regarding its progression. We aimed at analyzing the heterogeneity of mutational load of BRAF V600E in biopsies of melanoma patients of different stages, and investigating its potential as a prognosis factor. Mutational load of BRAF V600E was analyzed by digital PCR in 78 biopsies of melanoma patients of different stages and 10 nevi. The BRAF V600E load was compared among biopsies of different stages. Results showed a great variability in the load of V600E (0%-81%). Interestingly, we observed a significant difference in the load of V600E between the early and late melanoma stages, in the sense of an inverse correlation between BRAF V600E mutational load and melanoma progression. In addition, a machine learning approach showed that the mutational load of BRAF V600E could be a good predictor of metastasis in stage II patients. Our results suggest that BRAF V600E is a promising biomarker of prognosis in stage II patients.

摘要

: 分析黑色素瘤中驱动突变的突变负荷可以提供关于其进展的有价值的信息。我们旨在分析不同阶段黑色素瘤患者活检中BRAF V600E突变负荷的异质性,并研究其作为预后因素的潜力。对 78 例不同分期的黑色素瘤患者和 10 例痣进行了BRAF V600E突变负荷的数字PCR分析。比较不同分期活检的BRAF V600E负荷。结果显示V600E负荷有很大的变异性 (0%-81%)。有趣的是,我们观察到早期和晚期黑色素瘤阶段的V600E负荷存在显著差异,BRAF V600E突变负荷与黑色素瘤进展呈负相关。此外,机器学习方法表明,BRAF V600E的突变负荷可能是II期患者转移的良好预测因子。我们的结果表明,BRAF V600E是II期患者预后的一个有前途的生物标志物。

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影响因子:1.09
发表时间:2020-01-01
DOI:10.1111/ced.14003
作者列表:["Zhang B","Li L","Zhang N","Zhao M","Liu Y","Wei L","Ma L","Xu Z"]

METHODS::Blue rubber bleb naevus syndrome (BRBNS) is an extremely rare venous malformation that often manifests as multiple haemangioma-like lesions in the skin and gastrointestinal tract. The drug sirolimus plays a key role in the signalling pathway of angiogenesis and subsequent development of BRBNS and its use has been described in several case reports. We present a case series of four patients with BRBNS who exhibited good treatment response to sirolimus. All four patients were administered oral sirolimus at doses of 1.0-1.5 mg/m2 /day with a target drug level of 5-10 ng/mL and median treatment duration of 20 months. All patients had a reduction in the size of the lesions and a normalization of coagulopathy with tolerable drug adverse reactions at follow-up. Sirolimus may be effective and safe in paediatric patients with BRBNS. Further prospective studies are suggested to evaluate the long-term effectiveness of this drug.

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影响因子:2.93
发表时间:2020-01-01
DOI:10.1016/j.jaad.2019.04.067
作者列表:["Pham CT","Juhasz M","Sung CT","Mesinkovska NA"]

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影响因子:0.96
发表时间:2020-01-01
DOI:10.1097/DAD.0000000000001459
作者列表:["Lang UE","Love NR","Cheung C","McCalmont TH","Kim J"]

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皮肤肿瘤方向

皮肤肿瘤是发生在皮肤的细胞增生性疾病,是一种常见病。发生于皮内或皮下组织的新生物,种类很多,临床上分良性肿瘤和恶性肿瘤。恶性肿瘤可以不断增殖,引起转移,威胁生命,称为皮肤癌。

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