title: Myelodysplastic syndrome with 5q deletion following IgM monoclonal gammopathy, showing gene mutation MYD88 L265P.
abstract: Patients affected by monoclonal gammopathy of undetermined significance (MGUS) very rarely develop a myelodysplastic syndrome (MDS). However, it was also demonstrated that MGUS patients had a significantly increased risk of developing MDS compared to the general population. We report a case of 5q-syndrome following a MGUS IgMk with mutation of MYD88 L256P. To our knowledge, this is the first case of del(5q) MDS following MGUS IgMk with the MYD88 L256P mutation in which there is coexistence of the markers of the two clonal diseases, but as an expression of distinct pathological features.
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Coccaro
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Tota
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Minervini
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Casieri
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Cellamare
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Crescenzio Francesco
authors.initials: CF
authors.lastname: Minervini
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Brunetti
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ricco
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Orsini
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Cosimo
authors.initials: C
authors.lastname: Cumbo
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy. Electronic address: francesco.albano@uniba.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D007075:Immunoglobulin M; D020125:Mutation, Missense; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics* / Q000473:pathology; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics*; D010265:Paraproteinemias / Q000209:etiology / Q000235:genetics* / Q000473:pathology
chemical_list: D007075:Immunoglobulin M; C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88
keywords: 5q deletion; Clonal independence; IgM monoclonal gammopathy; MYD88 L265P mutation; Myelodysplastic syndrome