Minzenmayer Andrew N, Miranda Roberto N, Powell Priscilla R, Parekh Palak K
Department of Dermatology, Baylor Scott and White Central Texas, Temple, Texas, USA.
Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
J Cutan Pathol. 2020 Sep;47(9):850-853. doi: 10.1111/cup.13722. Epub 2020 Jul 17.
Waldenström macroglobulinemia is a lymphoplasmacytic lymphoma with bone marrow involvement and a monoclonal IgM gammopathy. Infiltration of the skin by neoplastic cells is very rare, and it can be difficult to distinguish from marginal zone lymphoma. The MYD88 L265P mutation is strongly associated with Waldenström macroglobulinemia, and it may be helpful in differentiating the two disorders, although the presence of this mutation is not specific, and other factors must be considered when making the final diagnosis. We present a diagnostically challenging case of cutaneous Waldenström macroglobulinemia in which the MYD88 L265P mutation was identified in the skin but not in the bone marrow, due to a low tumor burden.
华氏巨球蛋白血症是一种伴有骨髓受累和单克隆IgM丙种球蛋白病的淋巴浆细胞性淋巴瘤。肿瘤细胞浸润皮肤极为罕见，且可能难以与边缘区淋巴瘤相鉴别。MYD88 L265P突变与华氏巨球蛋白血症密切相关，可能有助于鉴别这两种疾病，尽管该突变的存在并不具有特异性，在做出最终诊断时还必须考虑其他因素。我们报告一例具有诊断挑战性的皮肤华氏巨球蛋白血症病例，由于肿瘤负荷低，在皮肤中检测到MYD88 L265P突变，而骨髓中未检测到。
