title: Myelodysplastic disorders carrying both isolated del(5q) and JAK2(V617F) mutation: concise review, with focus on lenalidomide therapy.
abstract: The concomitant presence of del(5q) and JAK2(V617F) mutation is an infrequent event which occurs in rare patients with peculiar cytogenetic, molecular, morphological and clinical features, resembling those of both myelodysplastic syndromes and myeloproliferative neoplasms. Lenalidomide may induce rapid, profound, and long-lasting responses in a subset of these patients. However, the mechanism(s) by which the drug acts in these conditions remain not completely elucidated. A new case report and a review of all cases published so far in this setting are provided. Furthermore, the possibility of categorizing - from a clinical, pathological, and biological point of view - for at least some of these patients as a potential distinct entity is discussed.
authors: Scientific Direction, Italy.
authors: Pellegrino
authors: P
authors: Musto
authors: Laboratory of Preclinical and Translational Research, Italy.
authors: Vittorio
authors: V
authors: Simeon
authors: Unit of Hematology and Stem Cell Transplantation, Italy.
authors: Roberto
authors: R
authors: Guariglia
authors: Laboratory of Clinical Research and Advanced Diagnostics, Italy.
authors: Gabriella
authors: G
authors: Bianchino
authors: Laboratory of Clinical Research and Advanced Diagnostics, Italy.
authors: Vitina
authors: V
authors: Grieco
authors: Laboratory of Clinical Research and Advanced Diagnostics, Italy.
authors: Filomena
authors: F
authors: Nozza
authors: Laboratory of Preclinical and Translational Research, Italy.
authors: Francesco
authors: F
authors: La Rocca
authors: Scientific Direction, Italy.
authors: Gioacchino
authors: G
authors: Marziano
authors: Pathology Unit, IRCCS, Centro di Riferimento Oncologico della Basilicata, Rionero in Vulture, Italy.
authors: Anna Vittoria
authors: AV
authors: Lalinga
authors: Department of Hematology, Universita Cattolica del Sacro Cuore, Rome, Italy.
authors: Emiliano
authors: E
authors: Fabiani
authors: Department of Hematology, Universita Cattolica del Sacro Cuore, Rome, Italy.
authors: Maria Teresa
authors: MT
authors: Voso
authors: Laboratory of Internal Medicine and Hematology, S Luigi Gonzaga Hospital, Orbassano, Italy.
authors: Patrizia
authors: P
authors: Scaravaglio
authors: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors: Cristina
authors: C
authors: Mecucci
authors: Unit of Hematology and Stem Cell Transplantation, Italy.
authors: Giovanni
authors: G
authors: D'Arena
keywords: JAK2; World Health Organization; del(5q); lenalidomide; myelodysplastic syndromes; myeloproliferative neoplasms