{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T01:19:13Z","timestamp":1788484753803,"version":"build-2803163510"},"reference-count":52,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.3390\/medicina60030351","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T05:10:04Z","timestamp":1708405804000},"page":"351","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["BRAF V600E Mutation in Malignant Melanoma\u2014A Romanian Research Experience"],"prefix":"10.3390","volume":"60","author":[{"given":"Elena-Roxana","family":"Av\u0103d\u0103nei","sequence":"first","affiliation":[{"name":"Department of Morpho-Functional Sciences I\u2013Histology, Pathology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"},{"name":"Praxis Medical Investigation Laboratory, 35 Moara de Vant Street, 700376 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina-Draga","family":"C\u0103runtu","sequence":"additional","affiliation":[{"name":"Department of Morpho-Functional Sciences I\u2013Histology, Pathology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"},{"name":"Romanian Medical Science Academy, 1 I.C. Bratianu Boulevard, 030171 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7518-4049","authenticated-orcid":false,"given":"Irina","family":"Nuc\u0103","sequence":"additional","affiliation":[{"name":"Praxis Medical Investigation Laboratory, 35 Moara de Vant Street, 700376 Ia\u0219i, Romania"},{"name":"Department of Mother and Child Medicine-Genetics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2875-8991","authenticated-orcid":false,"given":"Raluca","family":"Balan","sequence":"additional","affiliation":[{"name":"Department of Morpho-Functional Sciences I\u2013Histology, Pathology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3994-6579","authenticated-orcid":false,"given":"Ludmila","family":"Lozneanu","sequence":"additional","affiliation":[{"name":"Department of Morpho-Functional Sciences I\u2013Histology, Pathology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"},{"name":"Department of Pathology, \u201cSf. Spiridon\u201d Clinical Emergency County Hospital, 1 Independentei Street, 700111 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6321-7253","authenticated-orcid":false,"given":"Simona-Eliza","family":"Giusca","sequence":"additional","affiliation":[{"name":"Department of Morpho-Functional Sciences I\u2013Histology, Pathology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8228-104X","authenticated-orcid":false,"given":"Cornelia","family":"Amalinei","sequence":"additional","affiliation":[{"name":"Department of Morpho-Functional Sciences I\u2013Histology, Pathology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Ia\u0219i, Romania"},{"name":"Department of Histopathology, Institute of Legal Medicine, 4 Buna Vestire Street, 700455 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"T\u00edm\u00e1r, J., and Lad\u00e1nyi, A. (2022). Molecular Pathology of Skin Melanoma: Epidemiology, Differential Diagnostics, Prognosis and Therapy Prediction. Int. J. Mol. 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