Sperr W R, Horny H P, Lechner K, Valent P
Department of Internal Medicine I, Division of Hematology and Hemostaseology, University of Vienna, Austria.
Leuk Lymphoma. 2000 May;37(5-6):473-86. doi: 10.3109/10428190009058500.
Patients with systemic mast cell (MC) disease, but not those with cutaneous mastocytosis, are at a high risk (10-30%) to develop life-threatening myelogenous malignancies. In a significant proportion of cases, myeloid leukemias occur. Using conventional criteria, such leukemias resemble acute myeloid leukemia (AML), chronic myeloid leukemia (CML), or myelomonocytic leukemia (CMML). Mast cell leukemia (MCL) may also occur. Myeloid leukemias (AML, CML, CMML) can develop in indolent or aggressive mastocytosis (skin lesions present or absent) with a variable prephase of MC disease. By contrast, MCL (typically without skin lesions) often develops on a "de novo" basis, and, if at all recognized, a prephase resembling (malignant) mastocytosis, is short. MCL differs from myeloid leukemias (AML, CML, CMML) by morphologic and phenotypic cellular characteristics. In fact, MCL are strongly tryptase-positive, c-kit-positive, myeloperoxidase (MPO) -negative neoplasms with variable metachromasia and chloroacetate esterase expression, whereas an MPO-positive, tryptase-negative phenotype supports the diagnosis of a myeloid non-MC lineage disease. Thus, MCL, but also myeloid non-MC lineage leukemias can develop in patients with (systemic) mastocytosis. Little is known, however, about the pathophysiologic basis of co-evolution. In the present article, the concomitant occurrence of mastocytosis and leukemia is discussed in the light of the literature and of concepts proposed to explain the biologic basis of this phenomenon.
患有系统性肥大细胞（MC）疾病的患者，而非患有皮肤肥大细胞增多症的患者，有很高风险（10%-30%）发展为危及生命的骨髓恶性肿瘤。在相当一部分病例中，会发生髓系白血病。根据传统标准，此类白血病类似于急性髓系白血病（AML）、慢性髓系白血病（CML）或骨髓单核细胞白血病（CMML）。也可能发生肥大细胞白血病（MCL）。髓系白血病（AML、CML、CMML）可在惰性或侵袭性肥大细胞增多症（有或无皮肤病变）中发生，MC疾病的前期阶段各不相同。相比之下，MCL（通常无皮肤病变）往往“新发”，且如果被识别，类似于（恶性）肥大细胞增多症的前期阶段很短。MCL在形态学和表型细胞特征上与髓系白血病（AML、CML、CMML）不同。事实上，MCL是强类胰蛋白酶阳性、c-kit阳性、髓过氧化物酶（MPO）阴性的肿瘤，异染性和氯乙酸酯酶表达各异，而MPO阳性、类胰蛋白酶阴性的表型支持诊断为髓系非MC谱系疾病。因此，MCL以及髓系非MC谱系白血病可在（系统性）肥大细胞增多症患者中发生。然而，关于共同演变的病理生理基础知之甚少。在本文中，将根据文献以及为解释这一现象的生物学基础而提出的概念，讨论肥大细胞增多症与白血病的同时发生。
