系统性肥大细胞增多症1例并文献复习

Systemic Mastocytosis: A Case Report and Literature Review

摘要: 回顾性分析我院血液内科收治的1例系统性肥大细胞增多症(SM)患者的临床资料，并结合国内外相关文献进行复习。患者，男性，67岁。因“发现嗜酸性粒细胞增多症1年余，间断发热1月余”入院。患者早期表现为嗜酸性粒细胞增多、血小板减少、骨质破坏及胃肠道受累，初始诊断为“特发性嗜酸性粒细胞增多症”，经糖皮质激素治疗后好转。后出现间断发热，复查骨髓细胞学提示存在5%疑似肥大细胞的异常细胞；流式免疫分型检出异常细胞群，免疫表型为CD13⁺CD33⁺CD16⁺CD25⁺CD30⁺CD59⁺CD64⁺CD117⁺CD45⁺⁺SSC⁺⁺，占有核细胞9.20%；骨髓活检病理明确为成人系统性肥大细胞增多症；外周血检测示C-KIT基因第17外显子(D816V)突变阳性。结合患者存在血细胞减少、多发骨质破坏等高危因素，最终诊断为系统性肥大细胞增多症(高危型)。入院后予甲泼尼龙控制症状，并予护胃、补钙等对症支持治疗。对于成人嗜酸性粒细胞增多症，若伴有不明原因的血细胞减少、骨质破坏及内脏损伤，应警惕系统性肥大细胞增多症的可能。骨髓活检、流式免疫分型(尤其是CD25、CD117的异常表达)及KIT D816V基因突变检测是确诊的关键。早期识别并明确高危因素，有助于指导精准治疗以改善患者预后。

Abstract: This study retrospectively analyzes the clinical data of a patient with systemic mastocytosis (SM) admitted to the Department of Hematology of our hospital, with a review of relevant domestic and international literature. The patient, a 67-year-old male, was admitted due to “eosinophilia detected for over one year and intermittent fever for one month”. In the early stage, the patient presented with eosinophilia, thrombocytopenia, bone destruction, and gastrointestinal involvement. He was initially diagnosed with “idiopathic hypereosinophilia” and improved after treatment with glucocorticoids. Subsequently, he developed intermittent fever, and repeat bone marrow cytology revealed 5% abnormal cells suggestive of mast cells. Flow cytometry immunophenotyping identified an abnormal cell population accounting for 9.20% of nucleated cells, with the immunophenotype CD13⁺CD33⁺CD16⁺CD25⁺CD30⁺CD59⁺CD64⁺CD117⁺CD45⁺⁺SSC⁺⁺. Bone marrow biopsy pathology confirmed adult systemic mastocytosis, and peripheral blood testing revealed a mutation in exon 17 (D816V) of the C-KIT gene. Considering the presence of high-risk factors such as cytopenia and multiple bone destruction, the patient was ultimately diagnosed with systemic mastocytosis (high-risk). After admission, the patient received methylprednisolone for symptom control, along with supportive care including gastric mucosal protection and calcium supplementation. In adult patients with eosinophilia accompanied by unexplained cytopenia, bone destruction, and visceral involvement, the possibility of systemic mastocytosis should be considered. Bone marrow biopsy, flow cytometry immunophenotyping (particularly the aberrant expression of CD25 and CD117), and KIT D816V gene mutation testing are crucial for establishing the diagnosis. Early identification and clarification of high-risk factors may facilitate precision therapy and improve patient outcomes.