A case of SRSF2 mutation in chronic lymphocytic leukemia

• Main Authors: Eduardo Garza, Giovanni Del Poeta, Carmen Martínez-Losada, Gianfranco Catalano, Loredana Borgia, Maria Liliana Piredda, Emiliano Fabiani, Valter Gattei, Francesco Lo-Coco, Nélida I. Noguera
• Format: Article
• Language: English
• Published: Elsevier 2016-01-01
• Series: Leukemia Research Reports
• Subjects: Genetic analysis; Chronic lymphocytic leukemia; Clinical aspect; SRSF2
• Online Access: http://www.sciencedirect.com/science/article/pii/S2213048915300261
• ISSN: 2213-0489

Chronic lymphocytic leukemia (CLL) is characterized by extremely variable clinical course indicating substantial differences in the biology of the disease. Molecular characterization provides new insights useful for treatment decision making. We report on a patient diagnosed with CLL, whose disease was characterized by episodes of rapid progression and disease stabilization, and in which a SRSF2 gene mutation was identified in the absence of other commonly known mutations of CLL. To the best of our knowledge this is the first case of SRSF2 gene mutation ever reported in CLL.