&lt;b&gt;&lt;i&gt;BRAF&lt;/i&gt;&lt;/b&gt; V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens

Lee, Jong Seo; Dennis, Katie; Madan, Rashna; Fan, Fang

doi:10.1159/000491814

Cited by 5 publications

(9 citation statements)

References 42 publications

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“…The growing incidence of melanoma worldwide has stimulated an increase in research aimed at identifying the genetic, environmental and phenotypic factors that contribute to its pathogenicity 3,12 . Recent studies have shown that between 40 and 60 % of cases show somatic mutations in the BRAF gene, with the V600E mutation being the most frequent (50 %) in patients with metastatic melanoma 20 and usually has a spindle cell morphology 21 .…”

Section: Introductionmentioning

confidence: 99%

Melanoma: clinical-pathological and molecular analysis in patients of Ibague city, Colombia

Puentes

Estrada

Bohórquez

et al. 2020

Duazary

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This study aimed to establish the clinicopathological characteristics of patients with melanoma and its association with BRAF gene mutations. The pathology reports and paraffin-embedded tumor samples from 47 women and 30 men with melanoma, with an average age of diagnosis of 60 years, were reviewed at the Hospital Federico Lleras Acosta of Ibague, between 2010 and 2016. The presence of V600E mutation at the exon 15 of BRAF gene, was analyzed in these tumoral samples by Sanger sequencing and visual inspection of the electropherograms. We also studied the clinicopathological variables with X2, t-Student and the Kaplan Meier index. Most of the lesions were located in the lower limbs (46.6%). The most frequent subtype was Acral Lentiginous Melanoma (41.8%). Most lesions were of poor prognosis: Breslow depth greater than 4.1 mm (52.7%), ulceration (61.4%) and medium or high mitotic rate (> 30 %). The V600E mutation was identified in five patients with large, deep and ulcerated tumors, four of them had less than four years of survival. In conclusion, there was a higher frequency of melanoma in women, V600E BRAF mutation was present in patients with advanced disease (high Breslow index) and, the probability of five-year survival was less than 40%.

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Section: Introductionmentioning

confidence: 99%

Melanoma: clinical-pathological and molecular analysis in patients of Ibague city, Colombia

Puentes

Estrada

Bohórquez

et al. 2020

Duazary

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“…Lee et al . [10] found similar rates of necrosis in fine-needle aspirate specimens, but few of the samples in their study demonstrated necrosis (only two in each of their BRAF mut and BRAF wt cohorts). Perhaps counter-intuitively, the greater rate of necrosis predominantly manifests in patients who had not previously received anti-BRAF therapy.…”

Section: Discussionmentioning

confidence: 93%

Correlation of MRI signal characteristics of intracranial melanoma metastases with BRAF mutation status

Lasocki

McArthur

2022

Melanoma Research

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BRAF V600 mutations (BRAFmut) are associated with more pigmentation in primary melanomas, but data on melanin content of metastases are limited. This study compares signal characteristics of BRAFmut and BRAF-wildtype (BRAFwt) intracranial melanoma metastases (IMM). MRI brain examinations at first diagnosis of IMM were identified, all performed at 3-Tesla including 1 mm volumetric pre- and postcontrast T1-weighted imaging and susceptibility-weighted imaging (SWI). Individual metastases were assessed by a neuroradiologist, stratified by size (≥10 mm, ‘larger’, vs. 2–9 mm, ‘small’; up to 10 per group); presence of intrinsic T1-hyperintensity (T1H) and, if present, whether confidently attributable to melanin as opposed to haemorrhage; evidence of haemorrhage; presence of central necrosis. A total of 267 IMM in 73 patients were assessed (87 larger IMM, 180 small). The proportion of larger IMM was similar in both groups (31% BRAFmut and 36% BRAFwt). In small IMM, MRI evidence of melanin was more common in BRAFmut patients (42% vs. 26%; P = 0.038). Haemorrhage was more common in larger IMM (51%, vs. 20% of small IMM; P < 0.0001), but did not differ based on BRAF status. Central necrosis was more common in larger IMM (44% vs. 7%; P < 0.0001) and in BRAFmut IMM (23% vs. 11%; P = 0.011). In the BRAFmut cohort, central necrosis was more common in patients without previous anti-BRAF therapy (33% vs. 7%; P = 0.0001). T1H attributable to melanin is only slightly more common in BRAFmut IMM than BRAFwt. Higher rates of central necrosis in BRAFmut patients without previous anti-BRAF therapy suggest that anti-BRAF therapy may affect the patterns of IMM growth.

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“…Although it is not possible to predict BRAF mutation status based on morphologic assessments in FNA specimens, some morphologic findings seem to be more frequent in BRAF ‐mutated MMs. A statistically significant association has been observed between spindle cell morphology and BRAF V600 mutations 55 …”

Section: Advances In the Cytologic Diagnosis Of MMmentioning

confidence: 97%

“…A statistically significant association has been observed between spindle cell morphology and BRAF V600 mutations. 55 Other potential biomarkers with prognostic and/ or predictive utility include PD-L1, NRAS, and KIT. NRAS mutations are particularly common in sinonasal and vaginal MMs.…”

Section: Predictive Evaluations On Cytologic Samplesmentioning

confidence: 99%

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Cytologic diagnosis of metastatic melanoma by FNA: A practical review

Ronchi

Montella

Marino

et al. 2021

Cancer Cytopathology

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Malignant melanoma (MM) is a highly aggressive neoplasm with a growing worldwide incidence. It is not uncommon that the disease is already metastatic at the time of the first diagnosis. Regional lymph nodes and skin are the first and most common metastatic sites, followed by distant visceral sites (lungs, liver, and central nervous system) and bone. In this clinical setting, fine-needle aspiration (FNA) often represents the first diagnostic approach. FNA is a useful tool to obtain a rapid and accurate diagnosis, in conjunction with ancillary techniques and molecular analysis, as recommended by recent guidelines.The aim of this review was to describe the cytomorphology, immunocytochemical tools, and molecular tools used for the diagnosis of MM metastases on FNA. Cancer Cytopathol 2021;0:1-12.

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<b><i>BRAF</i></b> V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens

Cited by 5 publications

References 42 publications

Melanoma: clinical-pathological and molecular analysis in patients of Ibague city, Colombia

Melanoma: clinical-pathological and molecular analysis in patients of Ibague city, Colombia

Correlation of MRI signal characteristics of intracranial melanoma metastases with BRAF mutation status

Cytologic diagnosis of metastatic melanoma by FNA: A practical review

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