Reinacher-Schick A, Petrasch S, Longley B J, Teschendorf C, Graeven U, Schmiegel W
Department of Medicine, Knappschaftskrankenhaus, Ruhr University, Bochum, Germany.
Ann Hematol. 1998 Sep;77(3):131-4. doi: 10.1007/s002770050428.
We describe the case of a 69-year-old man with systemic mastocytosis and severe osteopetrosis who carries a somatic activating mutation in the c-kit proto-oncogene. The patient initially presented with urticaria pigmentosa, progressing to systemic mast cell disease with severe anemia due to bone marrow involvement, chronic diarrhea, and hepatosplenomegaly. Direct sequencing using amplimers from reverse transcriptase-polymerase chain reactions (RT-PCR) from skin mast cell-derived RNA revealed a point mutation in the c-kit proto-oncogene at position 2468, introducing a new recognition site for the restriction endonuclease HinfI. Treatment with interferon-alpha 2a, prednisone, and erythropoietin was initiated. Subsequently, clinical symptoms improved significantly and hemoglobin levels are now stable at 13 g/dl.
我们描述了一名69岁患有系统性肥大细胞增多症和严重骨质石化的男性病例，其c-kit原癌基因存在体细胞激活突变。患者最初表现为色素性荨麻疹，随后发展为系统性肥大细胞疾病，因骨髓受累出现严重贫血、慢性腹泻和肝脾肿大。使用来自皮肤肥大细胞衍生RNA的逆转录聚合酶链反应（RT-PCR）扩增子进行直接测序，发现在c-kit原癌基因的2468位有一个点突变，引入了限制性内切酶HinfI的新识别位点。开始使用干扰素-α 2a、泼尼松和促红细胞生成素进行治疗。随后，临床症状显著改善，血红蛋白水平目前稳定在13 g/dl。
