伴有DNA测序结果及对全身抗肿瘤化疗反应的转移性微囊性附属器癌
Metastatic Microcystic Adnexal Carcinoma with DNA Sequencing Results and Response to Systemic Antineoplastic Chemotherapy.
作者信息
Chen Min-Bin, Laber Damian A
机构信息
Department of Oncology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, P.R. China.
Section of Satellite Oncology, Moffitt Cancer Center and Division of Hematology/Oncology, Morsani School of Medicine, University of South Florida, Tampa, FL, U.S.A.
出版信息
Anticancer Res. 2017 Sep;37(9):5109-5111. doi: 10.21873/anticanres.11929.
Microcystic adnexal carcinoma (MAC) is a rare cutaneous malignancy. Due to its rarity, the molecular characteristics and treatment for metastatic MAC remain undefined. Here we present, as far as we are aware, the first case of metastatic MAC with DNA sequencing results indicating a mutation in TP53 and chromosomal losses in cyclin dependent kinase inhibitor 2A (CDKN2A) and cyclin dependent kinase inhibitor 2B (CDKN2B). In addition, this is the first case of metastatic MAC with a documented objective response to systemic antineoplastic chemotherapy (carboplatin and paclitaxel) confirmed by positron emission tomography/computed tomography. Our case increases the very limited medical knowledge of this rare disease.
微囊性附属器癌（MAC）是一种罕见的皮肤恶性肿瘤。由于其罕见性，转移性MAC的分子特征和治疗方法仍不明确。据我们所知，在此我们报告首例转移性MAC病例，其DNA测序结果显示TP53发生突变，细胞周期蛋白依赖性激酶抑制剂2A（CDKN2A）和细胞周期蛋白依赖性激酶抑制剂2B（CDKN2B）存在染色体缺失。此外，这是首例经正电子发射断层扫描/计算机断层扫描证实对全身抗肿瘤化疗（卡铂和紫杉醇）有记录的客观反应的转移性MAC病例。我们的病例增加了对这种罕见疾病非常有限的医学认知。
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