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Neurofibromatosis type I and multiple myeloma coexistence: A possible link?
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 typi...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications, Pavia, Italy
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907645/ https://www.ncbi.nlm.nih.gov/pubmed/29721253 http://dx.doi.org/10.4081/hr.2018.7457 |
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author | 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 |
author_facet | 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 |
author_sort | Accardi, Fabrizio |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5907645 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | PAGEPress Publications, Pavia, Italy |
record_format | MEDLINE/PubMed |
spelling | pubmed-59076452018-05-02 Neurofibromatosis type I and multiple myeloma coexistence: A possible link? 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 Hematol Rep Case Report 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. PAGEPress Publications, Pavia, Italy 2018-04-03 /pmc/articles/PMC5907645/ /pubmed/29721253 http://dx.doi.org/10.4081/hr.2018.7457 Text en ©Copyright F. Accardi et al., 2018 http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report 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 Neurofibromatosis type I and multiple myeloma coexistence: A possible link? |
title | Neurofibromatosis type I and multiple myeloma coexistence: A possible link? |
title_full | Neurofibromatosis type I and multiple myeloma coexistence: A possible link? |
title_fullStr | Neurofibromatosis type I and multiple myeloma coexistence: A possible link? |
title_full_unstemmed | Neurofibromatosis type I and multiple myeloma coexistence: A possible link? |
title_short | Neurofibromatosis type I and multiple myeloma coexistence: A possible link? |
title_sort | neurofibromatosis type i and multiple myeloma coexistence: a possible link? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907645/ https://www.ncbi.nlm.nih.gov/pubmed/29721253 http://dx.doi.org/10.4081/hr.2018.7457 |
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