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Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

Fabrizio Accardi, Valentina Marchica, Cristina Mancini, Elena Maredi, Costantina Racano, Laura Notarfranchi, Davide Martorana, Paola Storti, Eugenia Martella, Benedetta Dalla Palma, Luisa Craviotto, Massimo De Filippo, Antonio Percesepe, Franco Aversa, Nicola Giuliani
  • Fabrizio Accardi
    Department of Medicine and Surgery, University of Parma; Hematology Unit, Parma University Hospital, Italy
  • Valentina Marchica
    Department of Medicine and Surgery, University of Parma, Italy
  • Cristina Mancini
    Pathology Unit, Parma University Hospital, Italy
  • Elena Maredi
    Pediatric Orthopedics, Rizzoli Orthopedic Institute, Bologna, Italy
  • Costantina Racano
    Pediatric Orthopedics, Rizzoli Orthopedic Institute, Bologna, Italy
  • Laura Notarfranchi
    Department of Medicine and Surgery, University of Parma; Hematology Unit, Parma University Hospital, Italy
  • Davide Martorana
    Medical Genetics, Parma University Hospital, Italy
  • Paola Storti
    Department of Medicine and Surgery, University of Parma, Italy
  • Eugenia Martella
    Pathology Unit, Parma University Hospital, Italy
  • Benedetta Dalla Palma
    Department of Medicine and Surgery, University of Parma; Hematology Unit, Parma University Hospital, Italy
  • Luisa Craviotto
    Department of Medicine and Surgery, University of Parma; Hematology Unit, Parma University Hospital, Italy
  • Massimo De Filippo
    Radiology Unit, University of Parma, Italy
  • Antonio Percesepe
    Medical Genetics, Parma University Hospital, Italy
  • Franco Aversa
    Department of Medicine and Surgery, University of Parma; Hematology Unit, Parma University Hospital, Italy
  • Nicola Giuliani
    Department of Medicine and Surgery, University of Parma; Hematology Unit, Parma University Hospital, Italy | nicola.giuliani@unipr.it

Abstract

The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the scientific community two new cases. The first one is a patient with active MM whereas the second with smoldering MM. Both patients present typical features of NF1 but skeletal alterations were present only in the second case including dysplasia, marked scoliosis and osteoporosis. MM osteolytic lesions were absent in both patients. In addition to the clinical diagnosis of NF1, a molecular testing for NF1 gene mutations has been performed finding that patient one was heterozygous for the c.6855C>A (Tyr2285Ter) mutation, whilepatient two was heterozygous for thec.7838dupC (Lys2614GlufsTer20) mutation. The two mutations were diagnosed both in genomic DNA from peripheral blood and from MM cells. The potential link between NF1 mutation and the increased risk of MM is discussed in the report.

Keywords

Multiple Myeloma, Neurofibromatosis, NF1

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Submitted: 2017-10-24 17:17:16
Published: 2018-04-03 09:00:54
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Copyright (c) 2018 Fabrizio Accardi, Valentina Marchica, Cristina Mancini, Elena Maredi, Costantina Racano, Laura Notarfranchi, Davide Martorana, Paola Storti, Eugenia Martella, Benedetta Dalla Palma, Luisa Craviotto, Massimo De Filippo, Antonio Percesepe, Franco Aversa, Nicola Giuliani

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