Department of Dermatology/Laboratory of Dermatopathology, Ed. Herriot Hospital, 69437 Lyon cedex 03, France.
Eur J Dermatol. 2010 Mar-Apr;20(2):167-71. doi: 10.1684/ejd.2010.0843. Epub 2009 Nov 17.
BRAF is a gene of the RAF family of kinases, frequently mutated in benign and malignant melanocytic tumors (nevi and melanomas). Organ transplant recipients are at high risk for developing various tumors, including melanocytic ones. We studied a group of 129 melanocytic tumors including various subtypes of nevi (n: 114) and melanomas (n: 15) excised from transplant (n: 63) and control (non-immunosuppressed) patients (n: 66) as to BRAF mutation status. Mutation research was performed after extraction of DNA from archival material (paraffin-embedded tissue specimens) by sequence analysis. BRAFV600E accounted for the most prevalent mutation found (94%). Melanocytic tumors from transplant patients had a lower frequency of BRAF mutations than control lesions (45.4% vs 63.5%, p<.05). The explanation for this difference is currently unknown. The possibility exists that in transplant patients, factors linked to immunosuppression (most likely immunosuppressive drugs) induce additional mutations, or activate alternative signaling pathways, which compensates for the lower rate of activating BRAF mutations in tumors developing in these patients.
BRAF 是 RAF 激酶家族的一个基因，常发生于良性和恶性黑色素瘤肿瘤（痣和黑色素瘤）中。器官移植受者发生各种肿瘤的风险很高，包括黑色素瘤。我们研究了一组 129 例黑色素瘤肿瘤，包括从移植（n=63）和对照（非免疫抑制）患者（n=66）切除的各种亚型痣（n=114）和黑色素瘤（n=15），以研究 BRAF 突变状态。通过序列分析从存档材料（石蜡包埋组织标本）中提取 DNA 后进行突变研究。BRAFV600E 占发现的最常见突变（94%）。与对照病变相比，移植患者的黑色素瘤肿瘤中 BRAF 突变的频率较低（45.4%比 63.5%，p<.05）。目前尚不清楚造成这种差异的原因。在移植患者中，与免疫抑制相关的因素（很可能是免疫抑制药物）可能诱导额外的突变，或激活替代信号通路，从而补偿这些患者中肿瘤中 BRAF 突变率较低的情况。
