title: A case of SRSF2 mutation in chronic lymphocytic leukemia.
abstract: 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.
authors.affiliation: Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, Italy; Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy; Laboratorios Dr. Moreira, Monterrey, Mexico.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Garza
authors.affiliation: Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Del Poeta
authors.affiliation: Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, Italy; Alfonso Martin Escudero Foundation, Madrid, Spain; Department of Hematology, IMIBIC, Hospital Universitario Reina Sofía, Universidad de Córdoba, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Martínez-Losada
authors.affiliation: Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Catalano
authors.affiliation: Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, Italy; Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Borgia
authors.affiliation: Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, Italy; Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy.
authors.forename: Maria Liliana
authors.initials: ML
authors.lastname: Piredda
authors.affiliation: Department of Hematology, Universita'Cattolica S. Cuore, Rome, Italy.
authors.forename: Emiliano
authors.initials: E
authors.lastname: Fabiani
authors.affiliation: Clinical & Experimental Onco-Hematology Unit, Centro di Riferimento Oncologico, Istituto di Ricovero e Cura a Carattere Scientifico, Aviano, Italy.
authors.forename: Valter
authors.initials: V
authors.lastname: Gattei
authors.affiliation: Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, Italy; Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo-Coco
authors.affiliation: Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, Italy; Department of Biomedicina e Prevenzione, "Tor Vergata" University, Rome, Italy.
authors.forename: Nélida I
authors.initials: NI
authors.lastname: Noguera
keywords: Chronic lymphocytic leukemia; Clinical aspect; Genetic analysis; SRSF2