Molecular Oncology and Pharmacology, LBPA CNRS UMR8113, Ecole Normale Supérieure de Cachan, 61, Avenue du Président Wilson, Cachan 94235, France.
Signaling, Hematopoiesis and Mechanism of Oncogenesis, Inserm U1068, CRCM, 27, Bd Leï Roure BP 30059, Marseille 13009, France; Institut Paoli-Calmettes, 232, Bd Sainte-Marguerite BP 156, Marseille 13009, France; Aix-Marseille University, UM 105, 27, Bd Leï Roure BP 30059, Marseille 13284, France; CNRS, UMR7258, CRCM, 27, Bd Leï Roure BP 30059, Marseille 13009, France.
Immunol Allergy Clin North Am. 2014 May;34(2):239-62. doi: 10.1016/j.iac.2014.01.009.
In all variants of mastocytosis, activating KIT mutations are frequently found. In adults, neoplastic mast cells (MCs) cells show the KIT mutation D816V, whereas in children, MCs invading the skin are frequently positive for non-KIT D816V mutations. The clinical course and prognosis of the disease vary among patients with systemic mastocytosis (SM). Additional KIT-independent molecular defects might cause progression. Additional oncogenic lesions have recently been identified in advanced SM. In advanced SM the presence of additional genetic lesions or altered signaling worsening the prognosis might lead to the use of alternative therapies such as combined antisignaling targeted treatments or stem cell transplantation.
在肥大细胞增多症的所有变异型中，经常发现激活的 KIT 突变。在成人中，肿瘤性肥大细胞 (MC) 细胞显示 KIT 突变 D816V，而在儿童中，浸润皮肤的 MC 常为非 KIT D816V 突变阳性。系统性肥大细胞增多症 (SM) 患者的疾病临床过程和预后存在差异。KIT 非依赖性的分子缺陷可能导致疾病进展。最近在晚期 SM 中发现了其他致癌病变。在晚期 SM 中，存在其他遗传病变或改变的信号转导可能会导致预后恶化，从而导致使用替代疗法，如联合抗信号靶向治疗或干细胞移植。
