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Cancers
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Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1
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Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1

A special issue of Cancers (ISSN 2072-6694).

Deadline for manuscript submissions: closed (28 February 2021) | Viewed by 52072

Special Issue Editors

Prof. Dr. Giulio Piluso

E-Mail Website
Guest Editor
Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy
Interests: neuromuscular disorders; intellectual disability; rare diseases; neurofibromatosis; RASopathies; NGS; molecular diagnostics; genotype–phenotype correlations
Dr. Claudia Santoro

E-Mail Website
Guest Editor
Neurofibromatosis Referral Centre, Department of Women's and Children's Health and General and Specialized Surgery; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy
Interests: neurofibromatosis; RASopathies; NGS; genotype-phenotype correlations; oncogenetic disorders

Special Issue Information

Dear Colleagues,

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited neurocutaneous condition with increased susceptibility to developing benign and malignant tumors. Although criteria for clinical diagnosis have been well established since 1987, the age-related appearance of typical NF1 clinical signs makes its diagnosis challenging, especially in pediatric age. In recent years, evidence of clinical overlap with other genetic conditions, such as Legius syndrome, RASopathies, and constitutional mismatch repair deficiency, have made differential molecular diagnosis mandatory. Further, novel correlations have been established between specific NF1 variants and milder or more severe NF1 phenotypes. Thanks to next-generation sequencing, we can today obtain an accurate genetic characterization of NF1-affected individuals, in some cases helping physicians in the clinical management of patients and driving clinical follow-up.

Despite the huge strides made in genetic investigations, criteria for diagnosis of NF1 are still fundamentally clinical and have remained unchanged for over 30 years.

Novel clinical and genetic findings in NF1 patients could provide a greater insight into pathogenesis and identify novel targeted therapies for the most serious complications of NF1 (e.g., plexiform neurofibromas, malignant peripheral nerve sheath tumors, and brain tumors) that can impact the life expectancy of these patients.

In this Special Issue, we will publish reviews and original papers covering recent clinical and genetic findings in NF1, with a particular focus on the identification of genotype–phenotype correlations, biomarkers or modifier genes, and discussion of their impact on present clinical scenarios and future therapeutic options. Specifically, we encourage original papers supporting the need to revise and redefine the diagnostic criteria for NF1 based on existing evidence. We also welcome papers reviewing the current state of knowledge within the genetic landscape of different tumors occurring in NF1.

Prof. Giulio Piluso
Dr. Claudia Santoro
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Neurofibromatosis type 1
  • Next-generation sequencing
  • Genotype–phenotype correlation
  • Biomarkers
  • Modifier genes
  • Targeted and novel therapies
  • MPNST and plexiform neurofibromas
  • Brain tumors

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Published Papers (9 papers)

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Research

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17 pages, 625 KiB  
Article
Severe Phenotype in Patients with Large Deletions of NF1
by Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O. Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, members of the NF France Network, Pierre Wolkenstein and Eric Pasmantadd Show full author list remove Hide full author list
Cancers 2021, 13(12), 2963; https://doi.org/10.3390/cancers13122963 - 13 Jun 2021
Cited by 24 | Viewed by 3563
Abstract
Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts [...] Read more.
Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts are still missing to fully characterize this contiguous gene syndrome. NF1-deleted patients were enrolled and phenotypically characterized with a standardized questionnaire between 2005 and 2020 from a large French NF1 cohort. Statistical analyses for main NF1-associated symptoms were performed versus an NF1 reference population. A deletion of the NF1 gene was detected in 4% (139/3479) of molecularly confirmed NF1 index cases. The median age of the group at clinical investigations was 21 years old. A comprehensive clinical assessment showed that 93% (116/126) of NF1-deleted patients fulfilled the NIH criteria for NF1. More than half had café-au-lait spots, skinfold freckling, Lisch nodules, neurofibromas, neurological abnormalities, and cognitive impairment or learning disabilities. Comparison with previously described “classic” NF1 cohorts showed a significantly higher proportion of symptomatic spinal neurofibromas, dysmorphism, learning disabilities, malignancies, and skeletal and cardiovascular abnormalities in the NF1-deleted group. We described the largest NF1-deleted cohort to date and clarified the more severe phenotype observed in these patients. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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14 pages, 2289 KiB  
Article
Neurofibromin Deficiency and Extracellular Matrix Cooperate to Increase Transforming Potential through FAK-Dependent Signaling
by Andrea Errico, Anna Stocco, Vincent M. Riccardi, Alberto Gambalunga, Franco Bassetto, Martina Grigatti, Amedeo Ferlosio, Gianluca Tadini, Debora Garozzo, Stefano Ferraresi, Andrea Trevisan, Sandra Giustini, Andrea Rasola and Federica Chiara
Cancers 2021, 13(10), 2329; https://doi.org/10.3390/cancers13102329 - 12 May 2021
Cited by 6 | Viewed by 2889
Abstract
Plexiform neurofibromas (Pnfs) are benign peripheral nerve sheath tumors that are major features of the human genetic syndrome, neurofibromatosis type 1 (NF1). Pnfs are derived from Schwann cells (SCs) undergoing loss of heterozygosity (LOH) at the NF1 locus in an NF1+/− milieu [...] Read more.
Plexiform neurofibromas (Pnfs) are benign peripheral nerve sheath tumors that are major features of the human genetic syndrome, neurofibromatosis type 1 (NF1). Pnfs are derived from Schwann cells (SCs) undergoing loss of heterozygosity (LOH) at the NF1 locus in an NF1+/− milieu and thus are variably lacking in the key Ras-controlling protein, neurofibromin (Nfn). As these SCs are embedded in a dense desmoplastic milieu of stromal cells and abnormal extracellular matrix (ECM), cell–cell cooperativity (CCC) and the molecular microenvironment play essential roles in Pnf progression towards a malignant peripheral nerve sheath tumor (MPNST). The complexity of Pnf biology makes treatment challenging. The only approved drug, the MEK inhibitor Selumetinib, displays a variable and partial therapeutic response. Here, we explored ECM contributions to the growth of cells lacking Nfn. In a 3D in vitro culture, NF1 loss sensitizes cells to signals from a Pnf-mimicking ECM through focal adhesion kinase (FAK) hyperactivation. This hyperactivation correlated with phosphorylation of the downstream effectors, Src, ERK, and AKT, and with colony formation. Expression of the GAP-related domain of Nfn only partially decreased activation of this signaling pathway and only slowed down 3D colony growth of cells lacking Nfn. However, combinatorial treatment with both the FAK inhibitor Defactinib (VS-6063) and Selumetinib (AZD6244) fully suppressed colony growth. These observations pave the way for a new combined therapeutic strategy simultaneously interfering with both intracellular signals and the interplay between the various tumor cells and the ECM. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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27 pages, 1041 KiB  
Article
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
by Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Simona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello and Federico Zaraadd Show full author list remove Hide full author list
Cancers 2021, 13(8), 1879; https://doi.org/10.3390/cancers13081879 - 14 Apr 2021
Cited by 27 | Viewed by 4781
Abstract
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data [...] Read more.
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National Institutes of Health (NIH) criterion for NF1. Of these, 365 subjects fulfilled ≥2 NIH criteria, including 235 pediatric patients. Genetic testing was performed through cDNA-based sequencing, Next Generation Sequencing (NGS), and Multiplex Ligation-dependent Probe Amplification (MLPA). Uni- and multivariate statistical analysis was used to investigate genotype–phenotype correlations. Among patients fulfilling ≥ 2 NIH criteria, causative single nucleotide variants (SNVs) and copy number variations (CNVs) were detected in 267/365 (73.2%) and 20/365 (5.5%) cases. Missense variants negatively correlated with neurofibromas (p = 0.005). Skeletal abnormalities were associated with whole gene deletions (p = 0.05) and frameshift variants (p = 0.006). The c.3721C>T; p.(R1241*) variant positively correlated with structural brain alterations (p = 0.031), whereas Lisch nodules (p = 0.05) and endocrinological disorders (p = 0.043) were associated with the c.6855C>A; p.(Y2285*) variant. We identified novel NF1 genotype–phenotype correlations and provided an overview of known associations, supporting their potential relevance in the implementation of patient management. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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21 pages, 1633 KiB  
Article
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
by Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini, Dario Seif Ali, Gianpietro Giorgi, Lisa Buson, Maria Andrea Desbats, Matteo Cassina, Maurizio Clementi, Leonardo Salviati and Eva Trevisson
Cancers 2021, 13(5), 999; https://doi.org/10.3390/cancers13050999 - 27 Feb 2021
Cited by 11 | Viewed by 3589
Abstract
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important. NF1 displays allelic heterogeneity, with a high proportion of [...] Read more.
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important. NF1 displays allelic heterogeneity, with a high proportion of variants affecting splicing, including deep intronic alleles and changes outside the canonical splice sites, making validation problematic. Next Generation Sequencing (NGS) technologies integrated with multiplex ligation-dependent probe amplification (MLPA) have largely overcome RNA-based techniques but do not detect splicing defects. A rapid minigene-based system was set up to test the effects of NF1 variants on splicing. We investigated 29 intronic and exonic NF1 variants identified in patients during the diagnostic process. The minigene assay showed the coexistence of multiple mechanisms of splicing alterations for seven variants. A leaky effect on splicing was documented in one de novo substitution detected in a sporadic patient with a specific phenotype without neurofibromas. Our splicing assay proved to be a reliable and fast method to validate novel NF1 variants potentially affecting splicing and to detect hypomorphic effects that might have phenotypic consequences, avoiding the requirement of patient’s RNA. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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23 pages, 1889 KiB  
Article
Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1
by Thayne Woycinck Kowalski, Larissa Brussa Reis, Tiago Finger Andreis, Patricia Ashton-Prolla and Clévia Rosset
Cancers 2020, 12(9), 2416; https://doi.org/10.3390/cancers12092416 - 26 Aug 2020
Cited by 9 | Viewed by 5213
Abstract
Neurofibromatosis type (NF1) is a syndrome characterized by varied symptoms, ranging from mild to more aggressive phenotypes. The variation is not explained only by genetic and epigenetic changes in the NF1 gene and the concept of phenotype-modifier genes in extensively discussed in an [...] Read more.
Neurofibromatosis type (NF1) is a syndrome characterized by varied symptoms, ranging from mild to more aggressive phenotypes. The variation is not explained only by genetic and epigenetic changes in the NF1 gene and the concept of phenotype-modifier genes in extensively discussed in an attempt to explain this variability. Many datasets and tools are already available to explore the relationship between genetic variation and disease, including systems biology and expression data. To suggest potential NF1 modifier genes, we selected proteins related to NF1 phenotype and NF1 gene ontologies. Protein–protein interaction (PPI) networks were assembled, and network statistics were obtained by using forward and reverse genetics strategies. We also evaluated the heterogeneous networks comprising the phenotype ontologies selected, gene expression data, and the PPI network. Finally, the hypothesized phenotype-modifier genes were verified by a random-walk mathematical model. The network statistics analyses combined with the forward and reverse genetics strategies, and the assembly of heterogeneous networks, resulted in ten potential phenotype-modifier genes: AKT1, BRAF, EGFR, LIMK1, PAK1, PTEN, RAF1, SDC2, SMARCA4, and VCP. Mathematical models using the random-walk approach suggested SDC2 and VCP as the main candidate genes for phenotype-modifiers. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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18 pages, 2805 KiB  
Article
Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1
by Claudia Santoro, Stefania Picariello, Federica Palladino, Pietro Spennato, Daniela Melis, Jonathan Roth, Mario Cirillo, Lucia Quaglietta, Alessandra D’Amico, Giuseppina Gaudino, Maria Chiara Meucci, Ursula Ferrara, Shlomi Constantini, Silverio Perrotta and Giuseppe Cinalli
Cancers 2020, 12(6), 1426; https://doi.org/10.3390/cancers12061426 - 31 May 2020
Cited by 8 | Viewed by 3195
Abstract
The natural history of non-optic central nervous system (CNS) tumors in neurofibromatosis type 1 (NF1) is largely unknown. Here, we describe prevalence, clinical presentation, treatment, and outcome of 49 non-optic CNS tumors observed in 35 pediatric patients (0–18 years). Patient- and tumor-related data [...] Read more.
The natural history of non-optic central nervous system (CNS) tumors in neurofibromatosis type 1 (NF1) is largely unknown. Here, we describe prevalence, clinical presentation, treatment, and outcome of 49 non-optic CNS tumors observed in 35 pediatric patients (0–18 years). Patient- and tumor-related data were recorded. Overall survival (OS) and progression-free survival (PFS) were evaluated. Eighteen patients (51%) harbored an optic pathway glioma (OPG) and eight (23%) had multiple non-optic CNS lesions. The majority of lesions (37/49) were managed with a wait-and-see strategy, with one regression and five reductions observed. Twenty-one lesions (42.9%) required surgical treatment. Five-year OS was 85.3%. Twenty-four patients progressed with a 5-year PFS of 41.4%. Patients with multiple low-grade gliomas progressed earlier and had a lower 5-year PFS than those with one lesion only (14.3% vs. 57.9%), irrespective of OPG co-presence. Non-optic CNS tumors are common in young patients with NF1. Neither age and symptoms at diagnosis nor tumor location influenced time to progression in our series. Patients with multiple lesions tended to have a lower age at onset and to progress earlier, but with a good OS. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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Review

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20 pages, 9904 KiB  
Review
Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications
by Camilla Russo, Carmela Russo, Daniele Cascone, Federica Mazio, Claudia Santoro, Eugenio Maria Covelli and Giuseppe Cinalli
Cancers 2021, 13(8), 1831; https://doi.org/10.3390/cancers13081831 - 12 Apr 2021
Cited by 18 | Viewed by 5073
Abstract
Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which [...] Read more.
Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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17 pages, 9376 KiB  
Review
Cutaneous Findings in Neurofibromatosis Type 1
by Bengisu Ozarslan, Teresa Russo, Giuseppe Argenziano, Claudia Santoro and Vincenzo Piccolo
Cancers 2021, 13(3), 463; https://doi.org/10.3390/cancers13030463 - 26 Jan 2021
Cited by 29 | Viewed by 16993
Abstract
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated [...] Read more.
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. In this review the main features of café-au-lait macules, freckling, neurofibromas, juvenile xanthogranuloma, nevus anemicus and other cutaneous findings will be discussed. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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42 pages, 4396 KiB  
Review
Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design
by Claudia Riccardi, Lorena Perrone, Filomena Napolitano, Simone Sampaolo and Mariarosa Anna Beatrice Melone
Cancers 2020, 12(10), 2965; https://doi.org/10.3390/cancers12102965 - 13 Oct 2020
Cited by 14 | Viewed by 4980
Abstract
Vitamin D is a fat-soluble steroid hormone playing a pivotal role in calcium and phosphate homeostasis as well as in bone health. Vitamin D levels are not exclusively dependent on food intake. Indeed, the endogenous production—occurring in the skin and dependent on sun [...] Read more.
Vitamin D is a fat-soluble steroid hormone playing a pivotal role in calcium and phosphate homeostasis as well as in bone health. Vitamin D levels are not exclusively dependent on food intake. Indeed, the endogenous production—occurring in the skin and dependent on sun exposure—contributes to the majority amount of vitamin D present in the body. Since vitamin D receptors (VDRs) are ubiquitous and drive the expression of hundreds of genes, the interest in vitamin D has tremendously grown and its role in different diseases has been extensively studied. Several investigations indicated that vitamin D action extends far beyond bone health and calcium metabolism, showing broad effects on a variety of critical illnesses, including cancer, infections, cardiovascular and autoimmune diseases. Epidemiological studies indicated that low circulating vitamin D levels inversely correlate with cutaneous manifestations and bone abnormalities, clinical hallmarks of neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant tumour predisposition syndrome causing significant pain and morbidity, for which limited treatment options are available. In this context, vitamin D or its analogues have been used to treat both skin and bone lesions in NF1 patients, alone or combined with other therapeutic agents. Here we provide an overview of vitamin D, its characteristic nutritional properties relevant for health benefits and its role in NF1 disorder. We focus on preclinical and clinical studies that demonstrated the clinical correlation between vitamin D status and NF1 disease, thus providing important insights into disease pathogenesis and new opportunities for targeted therapy. Full article
(This article belongs to the Special Issue Clinical and Genetic Findings in Patients with Neurofibromatosis Type 1)
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