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

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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 *
(*) Corresponding Author:
Nicola Giuliani | 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.

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