Zyrek-Betts Jill, Micale Mark, Lineen Angela, Chaudhuri Prabir K, Keil Shannon, Xue Jianmin, Thomas Jean E
Department of Pathology, The University of Toledo Medical Center, Toledo, OH, USA.
J Cutan Pathol. 2008 Jul;35(7):651-7. doi: 10.1111/j.1600-0560.2007.00878.x. Epub 2007 Nov 1.
Malignant blue nevi arise within cellular blue nevi and contain atypical mitoses, necrosis, nuclear pleomorphism and prominent nucleoli. Malignant blue nevus has been described as a distinct identity, a rare form of malignant melanoma, and a misdiagnosed melanoma.
We present a patient with metastatic malignant blue nevus and studies on the histopathologic, immunohistochemical, and molecular features of the neoplasm.
Histology showed a malignant blue nevus arising in a combined intradermal and cellular blue nevus. CD117 (c-kit) staining showed diffuse cytoplasmic expression within the cellular blue nevus, decreased staining in the malignant component, and variable positivity within the lymph node metastases. Molecular loss of heterozygosity analysis showed different allelic patterns at the hOGG-1 locus between the melanoma and control skin specimens with a varying heterozygous allelic pattern in both the benign and malignant blue nevus.
Our case of malignant blue nevus with lymph node metastasis involved mutation of the hOGG-1 DNA repair gene. CD117 showed decreased staining of the primary malignant blue nevus with marked upregulation in the metastatic lesion, unlike most metastatic melanomas. Further study is needed to determine if hOGG-1 mutation or c-kit upregulation play a role in the pathogenesis of dendritic melanocytic lesions (either benign or malignant).
恶性蓝色痣起源于细胞性蓝色痣,包含非典型有丝分裂、坏死、核多形性和显著核仁。恶性蓝色痣被描述为一种独特的病变、一种罕见的恶性黑色素瘤形式以及一种误诊的黑色素瘤。
我们报告了一例伴有转移的恶性蓝色痣患者,并对该肿瘤的组织病理学、免疫组织化学和分子特征进行了研究。
组织学显示恶性蓝色痣起源于皮内和细胞性蓝色痣的混合病变。CD117(c-kit)染色显示细胞性蓝色痣内弥漫性细胞质表达,恶性成分中染色减少,淋巴结转移灶内阳性情况不一。杂合性缺失分子分析显示,黑色素瘤与对照皮肤标本在hOGG-1基因座存在不同的等位基因模式,良性和恶性蓝色痣中杂合等位基因模式也各不相同。
我们的伴有淋巴结转移的恶性蓝色痣病例涉及hOGG-1 DNA修复基因的突变。与大多数转移性黑色素瘤不同,CD117显示原发性恶性蓝色痣染色减少,而转移灶中明显上调。需要进一步研究以确定hOGG-1突变或c-kit上调是否在树突状黑素细胞病变(良性或恶性)的发病机制中起作用。