Wang Ji-Nuo, Qiu Yu, Sun Jian, Niu Na, Jiao Yang, Zhu Tie-Nan, Li Jian, Zhou Dao-Bin, Cao Xin-Xin
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing, China.
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing, China.
Am J Transl Res. 2021 Aug 15;13(8):9040-9047. eCollection 2021.
Progressive nodular histiocytosis (PNH) is a rare, clinically distinct non-Langerhans cell histiocytic neoplasm affecting the skin and mucous membranes with no signs of spontaneous regression of the lesions. Patients typically have hundreds of lesions of superficial xanthomatous papules to nodules and deep larger fibrous nodules, which can be life-threatening if laryngeal mucosa was involved. So far, few cases of PNH have been reported and no effective treatment has been shown to reverse the progressive clinical course.
Here we describe a case of PNH presenting as diffuse, progressively enlarging papules, nodules and even leonine appearance in a young woman. The diagnosis was confirmed by histological and immunohistochemical findings. Next-generation sequencing (NGS) showed identical missense mutation in and in-frame deletion in . Since ERK inhibitor has not been on the market yet, the patient received chemotherapy instead. Traditional chemotherapy with intermediate-dose of cytarabine (500 mg/m cytarabine by 3-hour infusion every 12 hours for 3 days every 5 weeks) achieved favorable therapeutic effect as confirmed by clinical symptoms and PET/CT imaging.
PNH is a rare, proliferative disorder with disfiguring lesions and deteriorative quality of life. Mutations in , may play crucial roles in the pathogenesis of PNH. Intermediate-dose cytarabine can be considered as a promising treatment option for PNH patients.
进行性结节性组织细胞增多症（PNH）是一种罕见的、临床特征明显的非朗格汉斯细胞组织细胞肿瘤，可累及皮肤和黏膜，病变无自发消退迹象。患者通常有数百个浅表黄色瘤性丘疹至结节以及深部较大纤维结节性病变，若累及喉黏膜则可能危及生命。迄今为止，PNH的病例报道较少，且尚无有效的治疗方法可逆转其进行性临床病程。
在此，我们描述一例PNH患者，该年轻女性表现为弥漫性、进行性增大的丘疹、结节，甚至出现狮面样外观。组织学和免疫组化检查结果确诊了该病例。二代测序（NGS）显示 存在相同的错义突变以及 存在框内缺失。由于ERK抑制剂尚未上市，该患者接受了化疗。采用中等剂量阿糖胞苷的传统化疗方案（每5周，每12小时静脉滴注500 mg/m²阿糖胞苷，持续3小时，共3天），经临床症状和PET/CT成像证实取得了良好的治疗效果。
PNH是一种罕见的增殖性疾病，伴有毁容性病变和生活质量下降。 、 的突变可能在PNH的发病机制中起关键作用。中等剂量阿糖胞苷可被视为PNH患者一种有前景的治疗选择。
