Metastatic Microcystic Adnexal Carcinoma with DNA Sequencing Results and Response to Systemic Antineoplastic Chemotherapy
Metastatic Microcystic Adnexal Carcinoma with DNA Sequencing Results and Response to Systemic Antineoplastic Chemotherapy
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转移性微囊性附件癌的 DNA 测序结果和对全身抗肿瘤化疗的反应。
DOI：
10.21873/anticanres.11929
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发表时间：
2017-09-01
影响因子：
2
通讯作者：
Laber, Damian A.
中科院分区：
文献类型：
--
作者：
Chen, Min-Bin;Laber, Damian A.
微囊状附属器癌是一种罕见的皮肤恶性肿瘤。由于其罕见性，转移性MAC的分子特征和治疗仍不明确。在这里，我们提出，据我们所知，第一例转移性MAC的DNA测序结果表明TP 53突变和染色体丢失的细胞周期蛋白依赖性激酶抑制剂2A（CDKN 2A）和细胞周期蛋白依赖性激酶抑制剂2B（CDKN 2B）。此外，这是第一例转移性MAC，经正电子发射断层扫描/计算机断层扫描证实，对全身化疗（卡铂和紫杉醇）有客观缓解。我们的病例增加了对这种罕见疾病非常有限的医学知识。
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.