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

Fabrizio Accardi,Eugenia Martella,Nicola Giuliani,Luisa Craviotto,Davide Martorana,Antonio Percesepe,Valentina Marchica,Benedetta Dalla Palma,Cristina Mancini,Costantina Racano,Massimo De Filippo,Franco Aversa,Elena Maredi,Paola Storti,Laura Notarfranchi

doi:10.4081/hr.2018.7457

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, while patient two was heterozygous for the c.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.

Highlights

Contributions: FA and NG wrote the manuscript; FA, NG, LN, LC and FA analyzed clinical data of the patients; CM and EM performed immunohistochemistry; VM, PS, DV and AP performed genetic study; MD, CR, and EM analyzed skeletal imaging
We found that patient 1 was heterozygous for the c.6855C>A (Tyr2285Ter) mutation, while patient 2 was heterozygous for the c.7838dupC (Lys2614GlufsTer20) mutation, both in NF1 gene
In this report we describe two new cases with the coexistence of NF1 and MM

Summary

Introduction

Contributions: FA and NG wrote the manuscript; FA, NG, LN, LC and FA analyzed clinical data of the patients; CM and EM performed immunohistochemistry; VM, PS, DV and AP performed genetic study; MD, CR, and EM analyzed skeletal imaging. Parma University Hospital; n 6Radiology Unit, University of Parma, o Italy use Abstract l The association between ia Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrarc sia is very rare.

Results

Conclusion