转移性基底细胞癌。
Metastatic Basal Cell Carcinoma.
机构信息
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
出版信息
Am J Clin Pathol. 2019 Nov 4;152(6):706-717. doi: 10.1093/ajcp/aqz089.
Abstract
OBJECTIVES
Diagnosis of metastatic basal cell carcinoma (BCC) remains challenging, in part due to its rarity. With the advent of molecularly targeted therapies, recognition of this entity is more important than ever.
METHODS
We identified 11 cases of metastatic BCC over a 13-year period. We analyzed these tumors in conjunction with their respective primary tumors by histomorphologic, immunohistochemical, and molecular genetic analyses.
RESULTS
We identified three morphologic patterns of metastasis in BCC. The most common (seven cases) was characterized by completely typical features of BCC. Two cases showed marked squamous differentiation within BCC. The final two cases showed exclusively features of a poorly differentiated carcinoma. One of these was definitively classified by molecular analysis, as both the primary and metastatic tumors harbored the same inactivating PTCH1 mutation.
CONCLUSIONS
This study illustrates multiple distinct morphologic patterns in metastatic BCC and highlights the utility of ancillary molecular testing for accurate diagnosis.
摘要
目的
转移性基底细胞癌（BCC）的诊断仍然具有挑战性，部分原因是其罕见性。随着分子靶向治疗的出现，对这种疾病的认识比以往任何时候都更加重要。
方法
我们在 13 年的时间里发现了 11 例转移性 BCC。我们通过组织形态学、免疫组织化学和分子遗传学分析，结合相应的原发性肿瘤对这些肿瘤进行了分析。
结果
我们在 BCC 中发现了三种转移的形态模式。最常见的（7 例）特征是完全典型的 BCC 特征。2 例 BCC 内显示明显的鳞状分化。最后两例仅表现为低分化癌的特征。其中一例通过分子分析明确分类，因为原发性和转移性肿瘤均携带相同的失活 PTCH1 突变。
结论
本研究说明了转移性 BCC 中存在多种不同的形态模式，并强调了辅助分子检测在准确诊断中的作用。
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