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

• Published in: Hematology reports Vol. 10; no. 1; p. 7457
• Main Authors: Accardi, Fabrizio, Marchica, Valentina, Mancini, Cristina, Maredi, Elena, Racano, Costantina, Notarfranchi, Laura, Martorana, Davide, Storti, Paola, Martella, Eugenia, Palma, Benedetta Dalla, Craviotto, Luisa, Filippo, Massimo De, Percesepe, Antonio, Aversa, Franco, Giuliani, Nicola
• Format: Journal Article
• Language: English
• Published: Italy MDPI AG 03-04-2018; PAGEPress Scientific Publications, Pavia, Italy; PAGEPress Publications, Pavia, Italy
• Subjects: Case Report; Dysplasia; Multiple myeloma; Multiple Myeloma, Neurofibromatosis, NF1; Mutation; Neurofibromatosis; Neurofibromin 1; Osteolysis; Osteoporosis; Peripheral blood; Scoliosis; NF1; Multiple Myeloma; Neuro - fibromatosis
• ISSN: 2038-8322; 2038-8330
• DOI: 10.4081/hr.2018.7457

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
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
mutation and the increased risk of MM is discussed in the report.