title: Concomitant MDS with isolated 5q deletion and MGUS: case report and review of molecular aspects.
abstract: Patients with monoclonal gammopathy of undetermined significance (MGUS) have a higher risk for the development of concomitant primary cancers such as multiple myeloma (MM) and myelodysplastic syndrome (MDS). We report the case of patient initially suffering from MGUS of the IgG lambda subtype for more than 10 yr, which evolved to MM and MDS with deletion (5q) with severe pancytopenia. Due to pancytopenia, he received dose-reduced treatment with lenalidomide and dexamethasone. He achieved an ongoing transfusion independency after about 1 month of treatment. Bone marrow taken 14 months after start of treatment showed a complete cytogenetic response of the del(5q) clone and a plasma cell infiltration below 5%. In contrast to the development of MM in MGUS patients, the subsequent occurrence of MDS after diagnosis of MGUS is infrequent. Moreover, the biological association of MDS with MGUS is not sufficiently understood, but the non-treatment-related occurrence supports the pathogenetic role of pre-existing alterations of stem cells. Here, we summarize data on concomitant MDS and MGUS/MM with particular emphasis on molecular aspects.
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.|Department of Internal Medicine, Hematology and Oncology, St. Hedwig Hospital, Berlin, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Nolte
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Mossner
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Johann-Christoph
authors.initials: JC
authors.lastname: Jann
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.|Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Daniel
authors.initials: D
authors.lastname: Nowak
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.|Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Boch
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.|Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Nadine Zoe
authors.initials: NZ
authors.lastname: Müller
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.|Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Wolf-Karsten
authors.initials: WK
authors.lastname: Hofmann
authors.affiliation: Medical faculty Mannheim of the University of Heidelberg, Mannheim, Germany.|Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, Mannheim, Germany.
authors.forename: Georgia
authors.initials: G
authors.lastname: Metzgeroth
mesh_terms: D000368:Aged; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D018450:Disease Progression; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008998:Monoclonal Gammopathy of Undetermined Significance / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics
chemical_list: C473949:ASXL1 protein, human; D012097:Repressor Proteins
keywords: hematopoiesis and hematopathology; multiple myeloma; myelodysplastic syndromes; stem cell biology