Philpott Hamish, Gow Paul, Crowley Peter, Nandurkar Sanjay, Douglass Jo, Gibson Peter R
Department of Gastroenterology & Hepatology, Eastern Health and Eastern Health Clinical School, Monash University, Melbourne, Australia.
Department of Liver Transplantation, Austin Hospital, Melbourne, Australia.
Frontline Gastroenterol. 2012 Jan;3(1):5-9. doi: 10.1136/flgastro-2011-100013. Epub 2011 Sep 10.
A 53 year old woman presented with abnormal liver function tests and subsequently developed intermittent abdominal pain, vomiting and diarrhoea. There were no rash or anaphylactoid reactions. Endoscopic biopsies showed excessive density of eosinophils and immunohistochemical staining for tryptase revealed a florid mast cell infiltrate. A diagnosis of systemic mastocytosis was made by bone marrow biopsy. Systemic mastocytosis is a rare myeloid neoplasm often associated with gastrointestinal symptoms due usually to mediator release but may rarely represent organ infiltration. While endoscopic and routine biopsy appearances are non-specific, suggestive features should lead to staining for mast cell tryptase or CD 117. However, diagnose generally requires bone marrow biopsy. The prognosis in the majority of patients is good and supportive management only is required. For patients with aggressive disease, cytoreductive therapy may be needed.
一名53岁女性因肝功能检查异常就诊，随后出现间歇性腹痛、呕吐和腹泻。无皮疹或类过敏反应。内镜活检显示嗜酸性粒细胞密度过高，类胰蛋白酶免疫组化染色显示有大量肥大细胞浸润。经骨髓活检确诊为系统性肥大细胞增多症。系统性肥大细胞增多症是一种罕见的髓系肿瘤，通常因介质释放而常伴有胃肠道症状，但很少表现为器官浸润。虽然内镜和常规活检表现不具有特异性，但提示性特征应进行肥大细胞类胰蛋白酶或CD 117染色。然而，一般诊断需要骨髓活检。大多数患者预后良好，仅需支持性治疗。对于侵袭性疾病患者，可能需要进行减瘤治疗。
