Valent Peter, Akin Cem, Sperr Wolfgang R, Horny Hans-Peter, Metcalfe Dean D
Department of Internal Medicine 1, Division of Hematology and Hemostaseology, University of Vienna, Währinger Gürtel 18-20, Vienna, Austria.
Hematol Oncol Clin North Am. 2003 Oct;17(5):1227-41. doi: 10.1016/s0889-8588(03)00089-3.
The term mastocytosis covers a heterogeneous group of disorders characterized by the abnormal growth and accumulation of MCs in one or more organ systems. Clinical symptoms occur from the release of chemical mediators or pathologic infiltration of MCs. CM typically presents as UP and is a benign disease confined to the skin. In many cases, particularly in children, this disease regresses spontaneously. By contrast, SM is a clonal persistent disease of MC-committed or precommitted hematopoietic progenitors. In most of these patients, the transforming c-kit mutation Asp-816-Val is detectable. The clinical course in SM is variable. Many cases remain in an indolent stage over decades. In a few patients, significant organopathy is found, and this may lead to the diagnosis of aggressive SM. In other patients, AHNMD is diagnosed. MCL is a rare form of SM characterized by leukemic spread of MCs in the marrow and blood and rapid progression. In contrast to indolent SM, patients with MCL or aggressive SM often present without UP-like skin lesions. Patients with indolent SM should be treated with mediator-targeting drugs but not with cytoreductive drugs. By contrast, patients with aggressive SM or MCL are candidates for cytoreductive therapy. Some patients with aggressive SM may benefit from IFNalpha2b. Patients with rapid progression or MCL are candidates for more aggressive treatment, including cladribine, chemotherapy, and stem cell transplantation. In patients with SM-AHNMD, the SM should be treated as if no AHNMD is present, and the AHNMD should be treated as if no SM had been diagnosed.
肥大细胞增多症这一术语涵盖了一组异质性疾病，其特征为肥大细胞（MCs）在一个或多个器官系统中异常生长和积聚。临床症状由化学介质的释放或MCs的病理浸润引起。皮肤肥大细胞增多症（CM）通常表现为斑丘疹，是一种局限于皮肤的良性疾病。在许多情况下，尤其是儿童，这种疾病会自发消退。相比之下，系统性肥大细胞增多症（SM）是一种由MC定向或预先定向的造血祖细胞引起的克隆性持续性疾病。在大多数这类患者中，可检测到转化型c-kit突变Asp-816-Val。SM的临床病程多变。许多病例在数十年中处于惰性阶段。少数患者会出现明显的器官病变，这可能导致侵袭性SM的诊断。在其他患者中，会诊断出相关血液系统非肥大细胞疾病（AHNMD）。肥大细胞白血病（MCL）是SM的一种罕见形式，其特征为MCs在骨髓和血液中呈白血病样播散且进展迅速。与惰性SM不同，MCL或侵袭性SM患者通常没有类似斑丘疹的皮肤病变。惰性SM患者应使用靶向介质的药物治疗，而非细胞减灭药物。相比之下，侵袭性SM或MCL患者是细胞减灭疗法的候选对象。一些侵袭性SM患者可能从干扰素α2b中获益。进展迅速的患者或MCL患者是更积极治疗的候选对象，包括克拉屈滨、化疗和干细胞移植。对于SM-AHNMD患者，应在不考虑AHNMD的情况下治疗SM，同时应在不考虑已诊断SM的情况下治疗AHNMD。
