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Hematology Reports
Volume 10
Issue 1
10.4081/hr.2018.7457
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Hematology Reports is published by MDPI from Volume 14 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Neurofibromatosis Type I and Multiple Myeloma Coexistence: A Possible Link?

by
Fabrizio Accardi
1,2,
Valentina Marchica
1,
Cristina Mancini
3,
Elena Maredi
4,
Costantina Racano
4,
Laura Notarfranchi
1,2,
Davide Martorana
5,
Paola Storti
1,
Eugenia Martella
3,
Benedetta Dalla Palma
1,2,
Luisa Craviotto
1,2,
Massimo De Filippo
6,
Antonio Percesepe
5,
Franco Aversa
1,2 and
Nicola Giuliani
1,2,*
1
Department of Medicine and Surgery, University of Parma, Via Gramsci 14, 43126 Parma, Italy
2
Hematology Unit, Parma University Hospital, 43126 Parma, Italy
3
Pathology Unit, Parma University Hospital, 43126 Parma, Italy
4
Pediatric Orthopedics, Rizzoli Orthopedic Institute, 40121 Bologna, Italy
5
Medical Genetics, Parma University Hospital, 43126 Parma, Italy
6
Radiology Unit, University of Parma, 43126 Parma, Italy
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2018, 10(1), 7457; https://doi.org/10.4081/hr.2018.7457
Submission received: 24 October 2017 / Revised: 2 January 2018 / Accepted: 28 February 2018 / Published: 3 April 2018

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.
Keywords: multiple myeloma; neurofibromatosis; NF1 multiple myeloma; neurofibromatosis; NF1

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MDPI and ACS Style

Accardi, F.; Marchica, V.; Mancini, C.; Maredi, E.; Racano, C.; Notarfranchi, L.; Martorana, D.; Storti, P.; Martella, E.; Dalla Palma, B.; et al. Neurofibromatosis Type I and Multiple Myeloma Coexistence: A Possible Link? Hematol. Rep. 2018, 10, 7457. https://doi.org/10.4081/hr.2018.7457

AMA Style

Accardi F, Marchica V, Mancini C, Maredi E, Racano C, Notarfranchi L, Martorana D, Storti P, Martella E, Dalla Palma B, et al. Neurofibromatosis Type I and Multiple Myeloma Coexistence: A Possible Link? Hematology Reports. 2018; 10(1):7457. https://doi.org/10.4081/hr.2018.7457

Chicago/Turabian Style

Accardi, Fabrizio, Valentina Marchica, Cristina Mancini, Elena Maredi, Costantina Racano, Laura Notarfranchi, Davide Martorana, Paola Storti, Eugenia Martella, Benedetta Dalla Palma, and et al. 2018. "Neurofibromatosis Type I and Multiple Myeloma Coexistence: A Possible Link?" Hematology Reports 10, no. 1: 7457. https://doi.org/10.4081/hr.2018.7457

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