A case of SRSF2 mutation in chronic lymphocytic leukemia

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...

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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:
Online Access:http://www.sciencedirect.com/science/article/pii/S2213048915300261
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spelling doaj-dcdcd69844d54b0e985c87badbe134202020-11-24T23:54:04ZengElsevierLeukemia Research Reports2213-04892016-01-016C111410.1016/j.lrr.2016.03.001A case of SRSF2 mutation in chronic lymphocytic leukemiaEduardo Garza0Giovanni Del Poeta1Carmen Martínez-Losada2Gianfranco Catalano3Loredana Borgia4Maria Liliana Piredda5Emiliano Fabiani6Valter Gattei7Francesco Lo-Coco8Nélida I. Noguera9Laboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, ItalyDepartment of Biomedicina e Prevenzione, “Tor Vergata” University, Rome, ItalyLaboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, ItalyDepartment of Biomedicina e Prevenzione, “Tor Vergata” University, Rome, ItalyLaboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, ItalyLaboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, ItalyDepartment of Hematology, Universita’Cattolica S. Cuore, Rome, ItalyClinical & Experimental Onco-Hematology Unit, Centro di Riferimento Oncologico, Istituto di Ricovero e Cura a Carattere Scientifico, Aviano, ItalyLaboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, ItalyLaboratory of Neuro-Oncoematology, Santa Lucia Foundation, Rome, ItalyChronic 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.http://www.sciencedirect.com/science/article/pii/S2213048915300261Genetic analysisChronic lymphocytic leukemiaClinical aspectSRSF2
collection DOAJ
language English
format Article
sources DOAJ
author 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
spellingShingle 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
A case of SRSF2 mutation in chronic lymphocytic leukemia
Leukemia Research Reports
Genetic analysis
Chronic lymphocytic leukemia
Clinical aspect
SRSF2
author_facet 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
author_sort Eduardo Garza
title A case of SRSF2 mutation in chronic lymphocytic leukemia
title_short A case of SRSF2 mutation in chronic lymphocytic leukemia
title_full A case of SRSF2 mutation in chronic lymphocytic leukemia
title_fullStr A case of SRSF2 mutation in chronic lymphocytic leukemia
title_full_unstemmed A case of SRSF2 mutation in chronic lymphocytic leukemia
title_sort case of srsf2 mutation in chronic lymphocytic leukemia
publisher Elsevier
series Leukemia Research Reports
issn 2213-0489
publishDate 2016-01-01
description 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.
topic Genetic analysis
Chronic lymphocytic leukemia
Clinical aspect
SRSF2
url http://www.sciencedirect.com/science/article/pii/S2213048915300261
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