Loghavi Sanam, Curry Jonathan L, Garcia-Manero Guillermo, Patel Keyur P, Xu Jie, Khoury Joseph D, Torres-Cabala Carlos A, Nagarajan Priyadharsini, Aung Phyu P, Gibson Bernard R, Goodwin Brandon P, Kelly Brent C, Korivi Brinda R, Medeiros L Jeffrey, Prieto Victor G, Kantarjian Hagop M, Bueso-Ramos Carlos E, Tetzlaff Michael T
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
J Cutan Pathol. 2017 Dec;44(12):1075-1079. doi: 10.1111/cup.13039. Epub 2017 Sep 27.
Chronic myelomonocytic leukemia (CMML) is a hematopoietic stem cell neoplasm exhibiting both myelodysplastic and myeloproliferative features. Cutaneous involvement by CMML is critical to recognize as it typically is a harbinger of disease progression and an increased incidence of transformation to acute myeloid leukemia. Cutaneous lesions of CMML exhibit heterogeneous histopathologic features that can be challenging to recognize as CMML. We describe a 67-year-old man with a 3-year history of CMML who had been managed on single-agent azacitidine with stable disease before developing splenomegaly and acute onset skin lesions. Examination of these skin lesions revealed a dense infiltrate of histiocytic cells morphologically resembling Langerhans type cells (lacking frank histopathologic atypia), and with the immunophenotype of an indeterminate cell histiocytosis (S100+ CD1a+ and langerin-). Given the history of CMML, next-generation sequencing studies were performed on the skin biopsy. These revealed a KRAS (p.G12R) mutation identical to that seen in the CMML 3 years prior, establishing a clonal relationship between the 2 processes. This case expands the spectrum for and underscores the protean nature of cutaneous involvement by CMML and underscores the importance of heightened vigilance when evaluating skin lesions of CMML patients.
慢性粒单核细胞白血病(CMML)是一种造血干细胞肿瘤,兼具骨髓增生异常和骨髓增殖特征。CMML累及皮肤至关重要,因为它通常是疾病进展的先兆,也是转化为急性髓系白血病的发病率增加的标志。CMML的皮肤病变表现出异质性组织病理学特征,难以识别为CMML。我们描述了一名67岁男性,有3年CMML病史,在出现脾肿大和急性皮肤病变之前,一直使用阿扎胞苷单药治疗,病情稳定。对这些皮肤病变的检查显示,组织细胞密集浸润,形态上类似于朗格汉斯细胞类型(缺乏明显的组织病理学异型性),免疫表型为不确定细胞组织细胞增多症(S100+ CD1a+ 且朗格蛋白阴性)。鉴于有CMML病史,对皮肤活检进行了二代测序研究。结果显示KRAS(p.G12R)突变与3年前CMML中所见的相同,确立了这两个过程之间的克隆关系。该病例拓宽了CMML皮肤累及的范围,强调了其多变性,并突出了评估CMML患者皮肤病变时提高警惕的重要性。