Hematology Reports (Apr 2018)

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

DOI
https://doi.org/10.4081/hr.2018.7457
Journal volume & issue
Vol. 10, no. 1

Abstract

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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.

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