Yaghmour George, Wiedower Eric, Yaghmour Bassam, Nunnery Sara, Duncavage Eric, Martin Mike G
Department of Hematology and Oncology, Keck Hospital of USC, USC Norris Cancer Hospital, 1441 Eastlake Avenue, NTT suite 3467, Los Angeles, CA 90033-458, USA.
Department of Hematology/Oncology, The West Clinic, The University of Tennessee Health Science Center, Memphis, TN, USA.
Ther Adv Hematol. 2017 Feb;8(2):91-95. doi: 10.1177/2040620716680330. Epub 2016 Nov 29.
Sweet's syndrome (SS) is a rare condition characterized by the abrupt appearance of painful skin lesions due to neutrophilic dermal infiltration. Hematologic neoplasms, particularly acute myeloid leukemia (AML) and myelodysplastic syndromes (MDSs), have been commonly reported in association with SS. Clonal hematopoiesis of indeterminate potential (CHIP) is an emerging entity that is a precursor state to myeloid neoplasms. CHIP has not been previously associated with SS. We report the case of a 71-year-old man who presented with recurrent, painful edematous and erythematous papules and nodules for 18 months despite treatment with corticosteroids. He had normal blood counts, but a macrocytosis was noted (110 fl). Alternative causes of macrocytosis were ruled out. A skin biopsy confirmed a diagnosis of SS. Bone marrow biopsy specimen yielded a normal karyotype except for loss of the Y chromosome and equivocal morphologic findings. Polymerase chain reaction (PCR) and reverse transcription polymerase chain reaction (RT-PCR) of selected genes from the peripheral blood demonstrated a mixed lineage leukemia (MLL) partial tandem duplication (PTD) and sequence variant in CCAAT/enhancer binding protein alpha (CEBPA). These findings were consistent with a diagnosis of CHIP. The patient was treated with 5-azacitidine and achieved a complete remission of his skin lesions and was able to discontinue corticosteroids. To our knowledge, this is the first report of a patient with recurrent SS associated with CHIP. In addition to other myeloid neoplasms like AML and MDS, CHIP should be considered as a potential etiology in cases of recurrent SS. Treatment with a hypomethylating agents such as azacitidine could also serve as an alternative to systemic corticosteroid therapy.
斯威特综合征（SS）是一种罕见疾病，其特征为因中性粒细胞浸润真皮而突然出现疼痛性皮肤损害。血液系统肿瘤，尤其是急性髓系白血病（AML）和骨髓增生异常综合征（MDS），常被报道与SS相关。不确定潜能的克隆性造血（CHIP）是一种新兴的实体，是髓系肿瘤的前驱状态。CHIP此前未与SS相关联。我们报告一例71岁男性患者，尽管接受了皮质类固醇治疗，但仍反复出现疼痛性水肿性红斑丘疹和结节达18个月。他的血常规正常，但发现有大细胞性贫血（110 fl）。排除了大细胞性贫血的其他病因。皮肤活检确诊为SS。骨髓活检标本除Y染色体缺失和形态学结果不明确外，核型正常。对外周血中选定基因进行聚合酶链反应（PCR）和逆转录聚合酶链反应（RT-PCR），结果显示存在混合谱系白血病（MLL）部分串联重复（PTD）以及CCAAT/增强子结合蛋白α（CEBPA）序列变异。这些发现与CHIP的诊断一致。该患者接受了阿扎胞苷治疗，皮肤损害完全缓解，且能够停用皮质类固醇。据我们所知，这是首例复发性SS与CHIP相关的患者报告。除了AML和MDS等其他髓系肿瘤外，对于复发性SS病例，CHIP也应被视为一种潜在病因。使用阿扎胞苷等去甲基化药物进行治疗也可作为全身皮质类固醇治疗的替代方案。
