布伦纳腺腺瘤中的KRAS G12D突变
KRAS G12D mutation in Brunner gland adenoma.
作者信息
Ortega Mahatma, Sparks Jessica, Lichy Jack, Nava Victor E
机构信息
Pathology, George Washington University School of Public Health and Health Services, Washington, District of Columbia, USA.
University of Louisville School of Medicine, Louisville, Kentucky, USA.
出版信息
BMJ Case Rep. 2023 Jan 27;16(1):e252160. doi: 10.1136/bcr-2022-252160.
Brunner gland lesions (BGLs) encompass benign proliferations of the homonymous glands and have been designated as hyperplasia, adenoma (BGA), hamartoma or nodule. In general terms, lesions larger than 0.5 cm are considered true neoplasia with unknown malignant potential and unclear pathogenesis. Genetic alterations have seldom been reported in BGL, and include SMAD4/DPC4 and LRIG1, but not KRAS (Kirsten rat sarcoma viral oncogene homologue) to the best of our knowledge.We present the case of a man in his 60s, evaluated for iron deficiency anaemia harbouring a 1.5 cm BGA found by duodenoscopy. Immunohistochemistry failed to reveal microsatellite instability, and next-generation sequencing revealed a KRAS G12D point mutation.
布伦纳腺病变（BGLs）包括同名腺体的良性增生，已被定义为增生、腺瘤（BGA）、错构瘤或结节。一般来说，大于0.5厘米的病变被认为是具有未知恶性潜能和不明发病机制的真正肿瘤。据我们所知，BGL中很少有基因改变的报道，包括SMAD4/DPC4和LRIG1，但不包括KRAS（ Kirsten大鼠肉瘤病毒癌基因同源物）。我们报告了一例60多岁男性的病例，因缺铁性贫血接受评估，十二指肠镜检查发现一个1.5厘米的BGA。免疫组化未显示微卫星不稳定性，二代测序显示KRAS G12D点突变。
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