Valent P
Department of Internal Medicine I, University of Vienna.
Wien Klin Wochenschr. 1996;108(13):385-97.
Mastocytosis is a term collectively used for a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells. Clinical symptoms occur from the release of chemical mediators and the pathologic infiltration of cells. Three major groups of patients with mastocytosis can be distinguished: i) cutaneous mastocytosis, ii) mastocytosis involving the skin and one or more extracutaneous organ(s), and iii) visceral mastocytosis without involvement of the skin. Groups ii) and iii) account for approximately 15-20% of all cases and have been referred to as systemic mastocytosis. Cutaneous mastocytosis typically presents as urticaria pigmentosa or diffuse cutaneous mastocytosis. These patients usually have a benign course. In contrast, systemic mastocytosis is a diffuse hematologic process with an increased risk to develop aggressive disease. In these patients, additional hematologic abnormalities or a second hematologic process, such as a myeloproliferative or myelodysplastic syndrome, or acute leukemia, may develop. Malignant mastocytosis and mast cell leukemia are rare forms of mastocytosis and characterized by uncontrolled and progressive proliferation and infiltration of mast cells in diverse organs. These patients often present without cutaneous lesions and have a very unfavorable prognosis. Because of the immature morphology of the cells it is often difficult to establish the diagnosis in such patients. However, the use of antibodies to mast cell antigens has recently improved the diagnostic efficiency in patients with suspected mast cell disease. No effective therapy for patients with malignant mastocytosis is known, although some patients may benefit from corticosteroid and interferon alpha treatment. The present article gives an overview of current knowledge about the biology, heterogeneity and treatment of human mastocytosis.
肥大细胞增多症是一个统称，用于描述一组异质性疾病，其特征为肥大细胞异常生长和积聚。临床症状由化学介质的释放和细胞的病理浸润引起。肥大细胞增多症患者可分为三大类：i）皮肤肥大细胞增多症，ii）累及皮肤和一个或多个皮肤外器官的肥大细胞增多症，以及iii）不累及皮肤的内脏肥大细胞增多症。ii）和iii）组约占所有病例的15 - 20%，被称为系统性肥大细胞增多症。皮肤肥大细胞增多症通常表现为色素性荨麻疹或弥漫性皮肤肥大细胞增多症。这些患者通常病程良性。相比之下，系统性肥大细胞增多症是一种弥漫性血液学疾病，发生侵袭性疾病的风险增加。在这些患者中，可能会出现其他血液学异常或第二种血液学疾病，如骨髓增殖性或骨髓增生异常综合征，或急性白血病。恶性肥大细胞增多症和肥大细胞白血病是肥大细胞增多症的罕见形式，其特征是肥大细胞在不同器官中不受控制地进行性增殖和浸润。这些患者通常无皮肤病变，预后极差。由于细胞形态不成熟，这类患者往往难以确诊。然而，使用针对肥大细胞抗原的抗体最近提高了疑似肥大细胞疾病患者的诊断效率。尽管一些患者可能从皮质类固醇和α干扰素治疗中获益，但目前尚无针对恶性肥大细胞增多症患者的有效治疗方法。本文概述了关于人类肥大细胞增多症的生物学、异质性和治疗的当前知识。
