Lack of BRAF mutation in primary uveal melanoma

被引:101
|
作者
Cohen, Y
Goldenberg-Cohen, N
Parrella, P
Chowers, I
Merbs, SL
Pe'er, J
Sidransky, D
机构
[1] Johns Hopkins Univ, Sch Med, Div Head & Neck Canc Res, Dept Otolaryngol Head & Neck Surg, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD USA
[3] Casa Sollievo Sofferenza, Lab Mol Pathol, San Giovanni Rotondo, Italy
[4] Hadassah Univ Hosp, Dept Ophthalmol, Jerusalem, Israel
[5] Hebrew Univ Jerusalem, Hadassah Med Sch, Jerusalem, Israel
关键词
D O I
10.1167/iovs.02-1329
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
PURPOSE. BRAF T1796A activating mutations have been found in a high proportion of cutaneous melanomas, cutaneous nevi, and papillary thyroid carcinoma and in a small fraction of other cancers. This study was designed to investigate the incidence of BRAF T1796A mutation in uveal melanoma. METHODS. Twenty-nine formalin-fixed, paraffin-embedded posterior uveal melanomas were included in the study. DNA was extracted from the paraffin sections followed by PCR amplification of exon 15 and detection of the common BRAF missense mutation (T-A transversion at nucleotide 1796) using restriction enzyme analysis. RESULTS. Although positive cutaneous melanoma control cell lines harbored the T1796A BRAF mutation, none of the 29 uveal melanomas harbored the mutation. CONCLUSIONS. These data suggest that BRAY T1796A activating mutation is not common in primary, uveal melanoma. These findings are in accord with known differences in tumorigenesis between uveal and cutaneous melanomas. (Invest Ophthalmol Vis Sci. 2003;44:2876-2878) DOI: 10.1167/iovs-02-1329.
引用
收藏
页码:2876 / 2878
页数:3
相关论文
共 50 条
  • [31] BRAF mutation and FISH in the prognosis of cutaneous melanoma
    Nardone, B.
    Barahmani, N.
    Pouryazdanparast, P.
    Martini, M.
    Rademaker, A.
    West, D. P.
    Gerami, P.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 : S130 - S130
  • [32] BRAF-Mutation detection in metastatic Melanoma
    Dietel, M.
    Enk, A.
    Lehmann, A.
    Bauer, J.
    Garbe, C.
    Kellner, U.
    Kirchner, T.
    Jung, A.
    Kreipe, H.
    Merkelbach-Bruse, S.
    Buettner, R.
    Rueschoff, J.
    Schlake, W.
    Schirmacher, P.
    Penzel, R.
    Stadler, R.
    PATHOLOGE, 2012, 33 (04): : 352 - 356
  • [33] BRAF mutation evolution in melanoma: Myth or reality?
    Molines, Elicia
    Haffner, Aurelie
    Fina, Frederic
    Malissen, Nausicaa
    Ouafik, L'Houcine
    Grob, Jean-Jacques
    Macagno, Nicolas
    ANNALES DE PATHOLOGIE, 2022, 42 (02) : 113 - 118
  • [34] Melanoma with BRAF Mutation in Circulating Cell-free DNA despite no Mutation in the Primary Lesion: A Case Report
    Ashida, Atsuko
    Uhara, Hisashi
    Mikoshiba, Asuka
    Sakaizawa, Kaori
    Kumagai, Naomi
    Koga, Hiroshi
    Okuyama, Ryuhei
    ACTA DERMATO-VENEREOLOGICA, 2016, 96 (01) : 128 - 129
  • [35] BRAF mutation testing on melanoma brain metastases
    Barresi, V.
    Simone, A.
    Scarf, R.
    De Luca, G.
    Lentini, M.
    Caltabiano, R.
    Lanzafame, S.
    Antonelli, M.
    Giuffre, G.
    VIRCHOWS ARCHIV, 2014, 465 : S327 - S328
  • [36] Expression of BAP1 mutation in primary tumors and metastasis in an animal model of uveal melanoma
    Castro, Clara
    Coblentz, Jacqueline
    Bergeron, Sabrina
    Mastromonaco, Christina
    Ferrier, Tadhg
    Burnier, Julia Valdemarin
    Burnier, Miguel N.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (07)
  • [37] Lack of KRAS and BRAF Mutation in Renal Cell Carcinoma
    Gattenloehner, S.
    Etschmann, B.
    Riedmiller, H.
    Mueller-Hermelink, H.-K.
    EUROPEAN UROLOGY, 2009, 55 (06) : 1490 - 1491
  • [38] Chromosomal aberration predict uveal melanoma mutation status
    Kilic, E.
    Yavuzyigitoglu, S.
    Drabarek, W.
    Obulkasim, A.
    Brands, T.
    Eussen, B.
    de Klein, A.
    ACTA OPHTHALMOLOGICA, 2016, 94
  • [39] Chromosomal aberrations correlate to mutation status in Uveal Melanoma
    Drabarek, W.
    Yavuzyigitoglu, S.
    Smit, K. N.
    Obulkasim, A.
    van Poppelen, N.
    Koopmans, A. E.
    Verdijk, R. M.
    Naus, N.
    Paridaens, D.
    de Klein, A.
    Kilic, E.
    ACTA OPHTHALMOLOGICA, 2017, 95 : 15 - 16
  • [40] BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
    Spathis, Aris
    Katoulis, Alexander C.
    Damaskou, Vasileia
    Liakou, Aikaterini, I
    Kottaridi, Christine
    Leventakou, Danai
    Sgouros, Dimitrios
    Mamantopoulos, Andreas
    Rigopoulos, Dimitrios
    Karakitsos, Petros
    Panayiotides, Ioannis G.
    DERMATOLOGY PRACTICAL & CONCEPTUAL, 2019, 9 (01): : 54 - 62