Systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease: a clinicopathologic review.
Systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease: a clinicopathologic review.
复制标题
系统性肥大细胞增多症与相关克隆性血液学非肥大细胞谱系疾病：临床病理学回顾。
DOI：
10.5858/arpa.2011-0325-rs
复制
发表时间：
2012
影响因子：
4.6
通讯作者：
Endi Wang
中科院分区：
文献类型：
--
作者：
Maggie M Stoecker;Endi Wang
系统性肥大细胞增多症（Systemic mastocytosis，SM）是一种异质性疾病，包括系统性肥大细胞增多症伴克隆性血液学非肥大细胞谱系疾病（systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease，SM-AHNMD）等6种亚型。骨髓活检标本显示多灶性肥大细胞聚集，主要为梭形形态，与髓样或较少见的淋巴增生性肿瘤相关（根据世界卫生组织标准定义）。肿瘤性肥大细胞异常表达CD 2和/或CD 25，可通过流式细胞术或免疫组织化学检测。SM-AHNMD的发病机制尚不清楚，然而，KIT酪氨酸激酶受体突变和骨髓干细胞中的其他遗传事件可能具有致病作用。应排除反应性肥大细胞增生、单核细胞/组织细胞增生、无足够AHNMD诊断标准的SM、与PDGFRA重排相关的非典型肥大细胞和其他类胰蛋白酶阳性骨髓增生。总的来说，预后很差，主要与AHNMD有关。细胞减灭疗法、脾切除术、异基因骨髓移植和酪氨酸激酶抑制剂（不包括伊马替尼）可能对治疗这些疾病具有潜在疗效。
Systemic mastocytosis (SM) is a heterogeneous disease with 6 subtypes, including systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease (SM-AHNMD). Bone marrow biopsy specimens show multifocal aggregates of mast cells with predominantly spindle-shaped morphology associated with a myeloid or, less frequently, a lymphoproliferative neoplasm defined by World Health Organization criteria. Neoplastic mast cells abnormally express CD2 and/or CD25, which may be detected by flow cytometry or immunohistochemistry. The pathogenesis of SM-AHNMD is not well understood; however, combined KIT tyrosine kinase receptor mutations and additional genetic events in myeloid stem cells may have a pathogenic role. Reactive mast cell hyperplasia, monocytic/histiocytic proliferations, SM without sufficient criteria for a diagnosis of AHNMD, atypical mast cells associated with PDGFRA rearrangements, and other tryptase-positive myeloid proliferations should be excluded. Overall, the prognosis is poor and largely related to the AHNMD. Cytoreductive therapies, splenectomy, allogeneic bone marrow transplant, and tyrosine kinase inhibitors, excluding imatinib, may have potential efficacy in the treatment of these diseases.
影响因子：
45.3
作者：
Byrd, JC;Dodge, RK;Bloomfield, CD
通讯作者：
Bloomfield, CD
影响因子：
45.3
作者：
Paschka, Peter;Marcucci, Guido;Bloomfield, Clara D.
通讯作者：
Bloomfield, Clara D.