Abraham Ronnie M, Ming Michael E, Elder David E, Xu Xiaowei
Department of Pathology, University of Pennsylvania, Philadelphia, PA, USA.
J Cutan Pathol. 2012 Jan;39(1):21-4. doi: 10.1111/j.1600-0560.2011.01849.x.
A subset of difficult melanocytic lesions exists with histopathologic features that evade diagnostic consensus from even expert dermatopathologists. Comparative genomic hybridization (CGH) has emerged as a useful diagnostic tool to categorize these lesions, by identifying known chromosomal aberrations in malignant melanoma or the lack thereof in melanocytic nevi. However, determining a lesion's biological behavior primarily on CGH is limited by a relatively small series of corroborative cases without long term follow up. We present a case of a pigmented lesion on the right cheek of a 4 year old boy. The lesion had features of a deep penetrating nevus, but the presence of frequent mitoses, tumor infiltrating lymphocytes, and microscopic foci of tumor necrosis were concerning for an unusual melanoma. We termed this lesion a melanocytic tumor of uncertain potential (MELTUMP) for these reasons. High-resolution array-CGH performed elsewhere on the lesion demonstrated no melanoma-associated genomic abnormalities. A sentinel lymph node biopsy of this patient later revealed multiple small tumor deposits. Although the presence of nodal involvement in similar lesions often do not lead to progressive and fatal disease, this case illustrates that atypical melanocytic lesions with nodal involvement may not demonstrate genomic abnormalities by CGH, and that histopathologic assessment remains paramount in defining these difficult melanocytic lesions. Further comprehensive study of these lesions is needed.
存在一部分具有组织病理学特征的疑难黑素细胞性病变，即使是专业皮肤病理学家也难以达成诊断共识。比较基因组杂交（CGH）已成为一种有用的诊断工具，通过识别恶性黑素瘤中已知的染色体畸变或黑素细胞痣中不存在的染色体畸变来对这些病变进行分类。然而，主要基于CGH来确定病变的生物学行为受到限制，因为相关的确证病例系列相对较少且缺乏长期随访。我们报告一例4岁男孩右脸颊色素性病变的病例。该病变具有深部浸润痣的特征，但频繁的核分裂象、肿瘤浸润淋巴细胞以及肿瘤坏死的微小病灶提示可能为不寻常的黑素瘤。基于这些原因，我们将该病变称为潜在恶性不确定的黑素细胞肿瘤（MELTUMP）。在其他地方对该病变进行的高分辨率阵列CGH检测未发现与黑素瘤相关的基因组异常。该患者的前哨淋巴结活检后来发现多个小肿瘤沉积物。尽管在类似病变中出现淋巴结受累通常不会导致进行性和致命性疾病，但该病例表明，伴有淋巴结受累的非典型黑素细胞性病变可能不会通过CGH显示基因组异常，并且在定义这些疑难黑素细胞性病变时，组织病理学评估仍然至关重要。需要对这些病变进行进一步的全面研究。
