朗格汉斯细胞组织细胞增多症相关的肺腺癌:在分子测定过程中的注意事项

Laura Melocchi, M. Mondoni, U. Malapelle, G. Rossi
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摘要

背景:吸烟习惯是肺朗格汉斯细胞组织细胞增多症(PLCH)和肺癌的常见原因,这两种疾病可能在肺部共存并共享遗传改变,如V600E BRAF突变。我们收集了三个小系列的plch相关肺腺癌病例,以评估这两个组成部分的分子设置,并强调仔细的组织选择对预测性分子驱动测试的关键作用。方法:收集3例plch相关腺癌的会诊资料。获得转诊医师的临床资料和临床资料。手术活检分别解剖腺癌细胞和朗格汉斯组织细胞,进行免疫组织化学和分子分析。结果:男性吸烟3例,诊断时中位年龄60.6岁。在疑似肺癌的检查中发现PLCH。分子分析显示2例PLCH患者存在KRAS (G12C和G13C)突变,1例PLCH患者存在V600E BRAF突变。使用V600E BRAF突变特异性一抗VE1进行免疫染色,可以正确识别BRAF突变的LCH。一个病例在两种疾病中都是野生型。文献中发现了两个类似的病例,其中一个在腺癌中出现了KRAS (G12D)突变,在LCH中出现了V600E BRAF突变;结论:本系列plch相关腺癌病例强调了在共存的良性和恶性病理中揭示相同遗传改变的可能性,然后可能产生错误的分子分析解释,导致在不正确的诊断识别和不适当的显微解剖选择这两种成分的情况下,治疗方案不足。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Langerhans Cell Histiocytosis-Associated Pulmonary Adenocarcinoma: A Word of Caution during Molecular Determinations
Background: Smoking habit is a common cause of pulmonary Langerhans cell histiocytosis (PLCH) and lung cancer and both diseases may coexist in the lung and share genetic alterations, such as V600E BRAF mutations. We collected a small series of three cases of PLCH-associated lung adenocarcinoma in order to evaluate the molecular setup in both components and underline the critical role of careful tissue selection for predictive molecular driver testing. Methods: Three cases of PLCH-associated adenocarcinoma were collected from consultation files. Clinical data from referring physicians and clinical data were obtained. The surgical biopsies were tested by immunohistochemistry and molecular analysis after separate dissection of adenocarcinoma cells and Langerhans histiocytes. Results: There were three active smoking men with a median age at diagnosis of 60.6 years. PLCH was disclosed at imaging during work-up for suspected lung cancer. Molecular analysis revealed KRAS (G12C and G13C) mutations in two cases and V600E BRAF mutation in one case of PLCH. Immunostaining with the V600E BRAF mutation specific primary antibody VE1 correctly recognized BRAF-mutated LCH. One case was wild-type in both diseases. Two similar cases were found in the literature, one of which showed a discrepant KRAS (G12D) mutation in adenocarcinoma and a V600E BRAF mutation in LCH; Conclusions: This case series of PLCH-associated adenocarcinoma underline the possibility to disclose identical genetic alterations in co-existing benign and malignant pathologies, then potentially creating erroneous interpretation of molecular analysis leading to inadequate therapeutic options in case of incorrect diagnostic recognition and inappropriate selection of both components through microdissection.
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