系统性肥大细胞增生症三例及文献复习

Systemic mastocytosis：a report of 3 cases and literature review

目的探讨系统性肥大细胞增生症（systemic mastocytosis，SM）的临床特征、诊断、分型、预后及治疗进展。方法回顾总结北京协和医院确诊的3例SM患者的临床资料，并结合国内外文献复习近年来有关SM的诊治进展。结果我院共确诊3例SM，例1为60岁女性，以阵发性颜面潮红、发热、呕吐、心悸、血压下降、晕厥等肥大细胞介质释放症状为主要表现，骨髓涂片分类中肥大细胞占0．06，骨髓病理检查示粒、红系细胞均明显减少，代之为大量肥大细胞，诊断侵袭性SM，经雷尼替丁治疗无效，临床经过凶险并死亡。例2为72岁男性，体检发现胃底壁增厚，行近端胃大部切除＋食管胃吻合术，病理检查提示胃底体弥漫性肥大细胞增生、周围淋巴结受累，诊断惰性SM，术后随访6年未复发。例3为41岁女性，以发热、色素性荨麻疹、多发骨病变为临床表现，骨组织病理检查示病变瘤体中密集分布肥大细胞，KIT—D816V和FIP1-L1-PDGFRa融合基因均（-），诊断侵袭性SM，予泼尼松、干扰素-α、帕米膦酸二钠治疗，随访1年病情相对稳定。结论SM是一种罕见疾病，不同分型间具有较强的异质性，其诊断主要依赖于病理学检查。目前尚无根治方法，治疗目标在于控制症状和改善生活质量。惰性肥大细胞增生症预后相对较好，侵袭性肥大细胞增生症预后相对较差。

Objective To review the clinical features,diagnostic work-up, classification, prognosis and treatment of systemic mastocytosis （SM）. Methods The clinical data of 3 SM patients admitted to Peking Union Medical College Hospital （PUMCH） were retrospectively analyzed and the review of recent literatures was performed. Results All the 3 cases were pathologically diagnosed. According to WHO 2008 classification criteria, 2 cases were diagnosed as aggressive SM （ASM） and the other one was diagnosed as indolent SM （ ISM ）. Case 1 was a 60-year-old female patient who had overt mediator release syndrome manifesting as episodes of flushing, fever, vomiting, palpitation, hypotension and syncope. She was diagnosed as aggressive SM based on significantly increased number of abnormal mast cells （accounting for 6% of all nucleated cells） in the bone marrow aspiration sample and biopsy specimen which accompanied with decreased other myeloid and erythroid elements. Her disease was refractory to the treatment of H2 antihistamines and led to a fatal outcome eventually. Case 2 was a 72-year-old male patient who underwent extended proximal gastrectomy with esophagogastric anastomosis due to endoscopically detected diffuse thickening of the gastric fundic mucosa. The diagnosis as indolent SM was established according to the dense infiltrate of abnormal mast cells in the surgically resected part of stomach and regional lymph nodes. He had been in complete remission for more than 6 years ever since then. Case 3 was a 41-year-old female patient who presented with fever, urticaria pigmentosa and diffuse bone lesions. A bone biopsy specimen demonstrated a dense infiltrate of mast cells while the assays for KIT-DS16V mutation and FIP1L1-PDGFRc~ fusion gene yielded negative results. She was diagnosed as aggressive SM and a progression-free survival of more than 1 year had been achieved with the treatment of prednisone, interferon-c~ and pamidronate. Conclusions SM is a rare disease. Diagnosis is primarily dependent on histopathology. There is currently no curative therapy for systemic mastocytosis. Treatment is intended to reduce symptoms and improve quality of life. The prognosis of ISM is much better than that of ASM.