Rassouli Mohammad, Voutsadakis Ioannis A
Division of Medical Oncology, Department of Internal Medicine, Sault Area Hospital, Sault Ste Marie, Ontario, Canada.
Division of Clinical Sciences, Northern Ontario School of Medicine, Sudbury, Ontario, Canada.
Breast J. 2016 Nov;22(6):688-691. doi: 10.1111/tbj.12661. Epub 2016 Aug 4.
Primary noncutaneous breast melanoma without an apparent skin primary lesion is uncommon. Its pathogenesis is debated with some authors believing that it is a metastatic disease from an undiscovered primary or a primary that has since completely regressed but it may be a true primary tumor arising from ectopic melanocytes. We present a case of a V600E BRAF mutation-positive primary noncutaneous breast melanoma diagnosed at an early stage in a screening mammogram as a solitary breast lesion without nodal involvement. Considerations of treatment of this rare disease are discussed.
原发性非皮肤性乳腺黑色素瘤且无明显皮肤原发灶的情况并不常见。其发病机制存在争议，一些作者认为它是来自未被发现的原发灶的转移性疾病，或是一个已经完全消退的原发灶，但它也可能是由异位黑素细胞产生的真正原发性肿瘤。我们报告一例V600E BRAF突变阳性的原发性非皮肤性乳腺黑色素瘤病例，该病例在乳腺筛查钼靶检查中早期被诊断为孤立性乳腺病变，无淋巴结受累。本文讨论了对这种罕见疾病的治疗考量。
