MEN-1 患者中表现为血管纤维瘤的恶性黑色素瘤。
Malignant melanoma masquerading as an angiofibroma in a patient with MEN-1.
机构信息
Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
出版信息
JAMA Dermatol. 2015 Jan;151(1):105-6. doi: 10.1001/jamadermatol.2014.2186.
Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant syndrome consisting of endocrine tumors of the parathyroid gland, pituitary gland, and pancreas. MEN-1 is caused by loss of function mutations in the gene, which encodes the tumor suppressor protein menin. Cutaneous collagenomas and facial angiofibromas also have been associated with MEN-1 and may serve as diagnostic clues to the diagnosis. We present a case of amelanotic melanoma resembling a large angiofibroma in a young man with MEN-1.
多发性内分泌腺瘤病 1 型（MEN-1）是一种常染色体显性综合征，由甲状旁腺、垂体和胰腺的内分泌肿瘤组成。MEN-1 是由 基因功能丧失突变引起的，该基因编码肿瘤抑制蛋白 menin。皮肤胶原瘤和面部血管纤维瘤也与 MEN-1 相关，可能作为诊断该疾病的线索。我们报告了 1 例 MEN-1 年轻男性患者的无黑色素性黑色素瘤，其表现类似于大型血管纤维瘤。
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