恶性顶泌汗腺腺瘤：二代测序时代的一例病例报告
Malignant acrospiroma: a case report in the era of next generation sequencing.
作者信息
Diab Maria, Gabali Ali, Kittaneh Muaiad
机构信息
Department of Internal Medicine, Wayne State University, School of Medicine, Detroit, MI, USA.
Department of Pathology, Wayne State University, School of Medicine, Detroit, MI, USA.
出版信息
BMC Cancer. 2017 Mar 27;17(1):221. doi: 10.1186/s12885-017-3217-5.
BACKGROUND
Malignant acrospiroma is a rare tumor of the eccrine sweat glands accounting for around 6% of all malignant eccrine tumors. Typically, it presents as large ulcerated nodules, and diagnosis can be challenging as it has great overlap with its benign counterpart.
CASE PRESENTATION
We herein report a case of acral malignant acrospiroma, initially treated with surgical excision and adjuvant radiotherapy. After metastatic disease was confirmed, subject received multiple lines of chemo- as well as targeted therapy. Genomic testing was also done using next generation sequencing.
CONCLUSION
To the best of our knowledge, this is the first case of acral malignant acrospiroma with reported next generation sequencing results.
背景
恶性顶泌汗腺腺瘤是一种罕见的小汗腺肿瘤，约占所有恶性小汗腺肿瘤的6%。通常，它表现为大的溃疡结节，由于与良性对应物有很大重叠，诊断可能具有挑战性。
病例报告
我们在此报告一例肢端恶性顶泌汗腺腺瘤病例，最初接受手术切除和辅助放疗。在确诊转移性疾病后，患者接受了多线化疗以及靶向治疗。还使用下一代测序进行了基因组检测。
结论
据我们所知，这是首例报告了下一代测序结果的肢端恶性顶泌汗腺腺瘤病例。
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