Population-based analysis of the prevalence of BRAF mutation in patients diagnosed with cutaneous melanoma and its significance as a prognostic factor

Rubió‐Casadevall, Jordi; Carbó, Anna; Puigdemont, Montserrat; Osca-Gelis, Gemma; Oliveras, Glòria; Vilar-Coromina, N.; Ferrer-Fabrega, Berta; Urban, Antoni; Llobet-Roma, Montserrat; Martín-Romero, Ferran; Pérez-Bueno, Ferran; Marcos‐Gragera, Rafael

doi:10.1684/ejd.2021.4136

Cited by 7 publications

(5 citation statements)

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“…A total of 36 articles were found with the aforementioned search criteria; after title and abstract screening, 9 records were excluded for irrelevant topic, while were excluded 15 for a known positive anamnesis for operated or palliated gastric cancer. A total of 12 papers, all case reports, were included in our final analysis [ 10 , 11 , 12 , 13 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. A total of 12 patients were retrieved from our analysis, 6 males and 5 females, and in one case the gender was not specified; the median age was 58.9 years (range 40–80).…”

Section: Resultsmentioning

confidence: 99%

“…In lung cancer, meningeal carcinomatosis is frequently associated with adenocarcinoma histotype, oncogenic driver mutations like epidermal growth factor receptor (EGFR) mutation, and anaplastic lymphoma kinase (ALK) translocation. In the largest cohort of patients with melanoma, BRAF mutations were identified in 67% of patients with leptomeningeal carcinomatosis versus 47% in the general population of patients with melanoma [ 17 , 19 , 21 , 22 ]. Although a rare occurrence, meningeal carcinomatosis appears in 0.062% of patients with gastric cancer [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

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Leptomeningeal Carcinomatosis in Early Gastric Cancer: A Case Report and Literature Review

Lucarini,

Arrivi,

Liotta

et al. 2024

Healthcare

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Leptomeningeal carcinomatosis (LC) is a rare site of metastasis in solid tumors, and it is associated with poor prognosis due to disabling symptoms and a scarcity of treatment options. This condition is an uncommon entity in gastric cancer (GC). We present a case of primary LC manifestation in a patient with an incidental diagnosis of localized node-negative GC. We additionally perform a literature review and discuss the diagnostic and therapeutic challenges. In conclusion, LC from GC represents a rare condition with a dramatic prognosis. Its diagnosis might be very challenging. A multidisciplinary approach appears to be the best strategy for the management of LC from GC.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Leptomeningeal Carcinomatosis in Early Gastric Cancer: A Case Report and Literature Review

Lucarini,

Arrivi,

Liotta

et al. 2024

Healthcare

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“…The tumor was negative for a mutation in the BRAF gene, which is consistent with the lack of cutaneous melanomatous lesions in this patient. BRAF mutations are present in ~50% of melanomas [ 10 ] but typically not in melanocytomas, although this has been reported on those melanocytomas associated with the nevus of Ota in neurocutaneous syndromes [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Intracranial meningeal melanocytoma: a case report and literature review

Chintapalli

2024

Journal of Surgical Case Reports

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Primary intracranial melanocytoma is an uncommon benign pigmented tumor arising from leptomeningeal melanocytes. Neuroimaging characteristics of central nervous system melanocytoma are distinct from similarly presenting intracranial neoplasms and can aid in diagnosis prior to histopathological examination. In rare cases, there may be more than one lesion present. We report a case of a 19-year-old woman presenting with progressively worsening headaches, nausea, emesis, and generalized weakness of 2 months. Imaging revealed tumors in the parietal and ipsilateral medial temporal lobe. The patient underwent gross total resection of the parietal lesion which histopathological assessment revealed to be primary intracranial meningeal melanocytoma. This case highlights the utility of specific imaging criteria such as diffusely increased T1 signal without enhancement in the initial diagnostic evaluation of intracranial melanocytoma. We also describe the clinical characteristics, management strategy, and histopathological features of a rare case of a patient with multiple primary intracranial melanocytoma lesions.

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“…There is substantial evidence that alterations characteristic for melanocytic neoplasia development are regulated by the BRAF gene. This is supported by the identification of BRAF mutations in nevi and primary or metastatic melanoma, suggesting that this mutation is an early event in melanoma genesis [ 23 ], but the prognostic value of BRAF mutation requires further validation [ 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

Avădănei,

Căruntu,

Nucă

et al. 2024

Medicina

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Background and Objectives: The most common mutation in malignant melanoma (MM) is the single-point mutation of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) oncogene. Our study aims to evaluate BRAF V600E mutation, highlighting its frequency differences in primary versus metastatic MM. Materials and Methods: The study group comprised 133 patients diagnosed with MM in several county hospitals of the north-eastern region of Romania who have been assigned for investigation into BRAF V600E mutation in the private medical system. The material consisted of archived formalin-fixed paraffin-embedded (FFPE) blocks. BRAF V600E mutation was identified using the fully automated IdyllaTM BRAF mutation test system. Results: Out of the total of 133 cases, 78 cases were primary tumors, while 55 cases were metastatic MMs. Genetic analysis revealed the presence of BRAF V600E mutation in 66 cases (49.62%) and the wild-type genotype in 67 cases (50.37%). We found a statistically significant difference of the mutation frequency according to age (p = 0.0072). The mutated genotype was found in 45 cases out of 78 primary MMs (57.69%) and in 21 cases out of 55 secondary MMs (38.18%), with a statistically significant difference in favor of primary tumors (p = 0.0413). The correlations between the histopathological types, Clark’s level, Breslow index, ulceration, and lymphovascular invasion, respectively, and the mutated genotype were not statistically significant. BRAF V600E mutation was identified in 15 out of 40 secondary tumors with lymph node location (37.5%) and in 6 out of 15 secondary tumors with another location (40%) without statistically significant differences between the mutation frequency and the location of the secondary tumors. Conclusions: Our results support MM high genetic heterogeneity, pointing out the relationship between BRAF V600E mutation and several clinicopathological characteristics, in primary and metastatic MMs, stressing the importance of BRAF testing implementation in Romania.

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Population-based analysis of the prevalence of BRAF mutation in patients diagnosed with cutaneous melanoma and its significance as a prognostic factor

Cited by 7 publications

References 0 publications

Leptomeningeal Carcinomatosis in Early Gastric Cancer: A Case Report and Literature Review

Leptomeningeal Carcinomatosis in Early Gastric Cancer: A Case Report and Literature Review

Intracranial meningeal melanocytoma: a case report and literature review

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

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