Computational Neurosciences Outcomes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Computational Neurosciences Outcomes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; Department of Neurosurgery, Haaglanden Medical Center, The Hague, The Netherlands; Department of Neurosurgery, Leiden University Medical Center, Leiden, The Netherlands.
World Neurosurg. 2020 Jun;138:e17-e25. doi: 10.1016/j.wneu.2020.01.111. Epub 2020 Mar 3.
Eccrine carcinoma involvement of the central nervous system (CNS) is exceedingly rare. The prognosis and response to treatment of this pathology remain poorly characterized.
A retrospective case series and literature review were conducted.
CNS-invading eccrine carcinoma was diagnosed in 3 patients (2 male and 1 female; age range, 60-79 years), including 2 cases of brain metastases and 1 case of brain-invading skull metastasis with subsequent spinal metastasis. The interval from primary tumor to CNS invasion was 18-51 months. All patients received multimodal therapy following diagnosis of CNS involvement. One patient who harbored a NOTCH1 mutation demonstrated a durable oncologic response after treatment with the immune checkpoint inhibitor pembrolizumab and lived 39 months after CNS invasion. The other 2 patients were discharged to hospice care within 1 month after the diagnosis of eccrine carcinoma brain metastasis. Including this case series, 23 cases of eccrine carcinoma invasion or metastasis to the CNS have been reported, with survival after diagnosis of CNS involvement ranging from a few weeks to 4 years.
We present 3 cases of eccrine carcinoma metastatic to the CNS, including the first reported case to our knowledge of eccrine carcinoma treated with immunotherapy. This case, harboring a NOTCH1 mutation, demonstrated the longest durable oncologic response reported in this rare disease. Genomic and molecular testing may play increasingly important roles in the evaluation of these metastases.
汗腺癌累及中枢神经系统（CNS）极为罕见。这种病理学的预后和治疗反应仍未得到充分描述。
进行了回顾性病例系列研究和文献复习。
诊断出 3 例（2 名男性和 1 名女性；年龄范围为 60-79 岁）CNS 侵犯性汗腺癌，包括 2 例脑转移和 1 例脑侵犯颅骨转移伴随后的脊髓转移。从原发性肿瘤到 CNS 侵犯的间隔为 18-51 个月。所有患者在诊断 CNS 受累后均接受了多模式治疗。1 例携带 NOTCH1 突变的患者在接受免疫检查点抑制剂 pembrolizumab 治疗后表现出持久的肿瘤反应，在 CNS 侵犯后存活了 39 个月。另外 2 例患者在诊断为汗腺癌脑转移后 1 个月内出院到临终关怀。包括本病例系列，已有 23 例汗腺癌侵犯或转移至 CNS 的报道，诊断为 CNS 受累后的生存时间从数周至 4 年不等。
我们报告了 3 例汗腺癌转移至 CNS 的病例，包括据我们所知首例用免疫疗法治疗的汗腺癌病例。该病例携带 NOTCH1 突变，表现出在这种罕见疾病中报告的最长持久的肿瘤反应。基因组和分子检测可能在评估这些转移中发挥越来越重要的作用。
