Afonja O, Amorosi E, Ashman L, Takeshita K
Department of Medicine, Kaplan Comprehensive Cancer Center, New York University Medical Center, NY 10016, USA.
Ann Hematol. 1998 Oct;77(4):183-6. doi: 10.1007/s002770050439.
We report on a patient with systemic mastocytosis with an activating point mutation of the c-kit gene. This mutation was identical to the c-kit mutation recently described by other groups. Additionally, we found that in this patient the mutation was also present in myeloid and erythroid lineages, indicating a multilineage involvement and suggesting a clonal origin of the disease similar to that described in other myeloproliferative disorders. The erythroid involvement was further demonstrated by the presence of erythropoietin-"independent" erythroid progenitor cells.
我们报告了一名患有系统性肥大细胞增多症且c-kit基因存在激活点突变的患者。该突变与其他研究小组最近描述的c-kit突变相同。此外，我们发现该患者的髓系和红系谱系中也存在这种突变，这表明该疾病存在多谱系受累，并提示其克隆起源与其他骨髓增殖性疾病相似。促红细胞生成素“非依赖性”红系祖细胞的存在进一步证实了红系受累。
