基因基因突变和其他遗传缺陷在乳腺细胞病变:对疾病病理学和向疗法的影响

Yannick Chantran1, Peter Valent2, Michel Arock3

  • 1Department of Biological Hematology, Pitié-Salpêtrière Hospital, DMU BioGem, AP-HP.Sorbonne University, Paris, France; Department of Biological Immunology, Saint-Antoine Hospital, DMU BioGem, AP-HP.Sorbonne University, Paris, France; Health Environmental Risk Assessment (HERA) Team, Centre of Research in Epidemiology and Statistics (CRESS), Inserm / INRAE, Faculty of Pharmacy, Université de Paris, Paris, France.

概括

系统性巨细胞症 (SM) 通常涉及KIT D816V突变. 先进的SM可能有额外的遗传缺陷,可以通过下一代测序检测到,有助于诊断和治疗监测.

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