Open AccessNeurofibromatosis type I and multiple myeloma coexistence: A possible link?
Author(s) -
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
Publication year - 2018
Publication title -
hematology reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.239
H-Index - 12
ISSN - 2038-8330
DOI - 10.4081/hr.2018.7457
Subject(s) - medicine , neurofibromatosis , dyscrasia , multiple myeloma , mutation , neurofibromatosis type i , plasma cell dyscrasia , dysplasia , scoliosis , pathology , cancer research , plasma cell , genetics , gene , immunology , surgery , antibody , biology , immunoglobulin light chain
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.
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