KIT D816V mutation detection: A comparative study using peripheral blood, bone marrow aspirate and bone marrow trephine samples for detection of KIT mutations in patients with systemic mastocytosis

摘要

Systemic mastocytosis (SM) is characterized by the abnormal proliferation and accumulation of mast cells. The clinical course in patients with SM ranges from benign (indolent mastocytosis) to fulminant with deterioration within months, which is attributable to aggressive infiltration of mast cells in tissues such as skin, bone marrow (BM), liver, spleen and lymph nodes.