Abstract：
Traditionally, skin involvement in chronic myelomonocytic leukemia (CMML) has been considered to be either specific (leukemia cutis) or non-specific, with granulomatous dermatitis included in the latter group. More recently, the true nature of the myeloid cells present in the cutaneous infiltrates of this theoretically reactive dermatitis is being clarified with the use of new molecular techniques such as next-generation sequencing. The same mutations in bone marrow (BM) myeloid neoplastic cells and in the cells of cutaneous infiltrates have been found. We present the case of a 77-year-old man who presented with spread and treatment-resistant skin granulomatous lesions previous to the diagnosis of CMML. The same clonal mutations in SRSF2, IDH1, and RUNX1 were found in both skin and BM with resolution of the lesions after the initiation of azacytidine. In conclusion, we report an exceptional case in which specific granulomatous cutaneous lesions have preceded and allowed the earlier diagnosis of an underlying CMML and a review of all previous similar cases in the literature, including molecular alterations.
摘要：
传统上,慢性粒单核细胞白血病（CMML）的皮肤受累被认为是特异性的（皮肤白血病）或非特异性的，肉芽肿性皮炎包括在后一组中。最近,这种理论上反应性皮炎的皮肤浸润液中存在的骨髓细胞的真正性质正在通过使用新的分子技术如下一代测序得以阐明.在骨髓（BM）髓样肿瘤细胞和皮肤浸润细胞中发现了相同的突变。我们介绍了一名77岁男子的病例，该男子在诊断为CMML之前就出现了扩散和抗治疗的皮肤肉芽肿性病变。在皮肤和BM中均发现了SRSF2，IDH1和RUNX1中的相同克隆突变，在氮杂胞苷开始后，病变消退。总之,我们报告了一个特殊的病例，其中特定的肉芽肿性皮肤病变已经发生并允许早期诊断潜在的CMML，并回顾了文献中所有以前的类似病例。包括分子改变。
