The diagnostic role of Next Generation Sequencing in uncovering isolated splenomegaly: A case report

Many diseases can induce splenomegaly, however, about 5% of splenomegalies are idiopathic. When there is no underlying treatable cause, and the splenomegaly significantly affects quality life, splenectomy best therapeutic choice. A 67-year-old woman had idiopathic asymptomatic splenomegaly. The increase in resulted hypersplenism with cytopenia symptoms related to abdominal discomfort. patient underwent which led clinical improvement. histological examination showed presence hematopoietic tissue. Peripheral blood Next Generation Sequencing myeloid panel SOPHiA Genetics following mutations: ASXL1, SRSF2, KRAS TET2. Three out these four mutations were also found splenic could be useful diagnosis associated myeloproliferative neoplasms otherwise defined as idiopathic, order address a strategy.