Ghent University Academic Bibliography

Advanced

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Douglas R Stewart, Hilde Brems, Alicia G Gomes, Sarah L Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes UGent, Michael B Bober, Rachel Hachen, Leonard B Kaban, et al. (2014) GENETICS IN MEDICINE. 16(6). p.448-459
abstract
Purpose: "Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and cafe-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1. Methods: We performed germline NF1, SPRED1, and GNAS1 (exon 8) mutation testing on patients with Jaffe-Cainpanacci syndrome of Jaffe-Campanacci syndrome-related features, We also performed somatic NF1 mutation testing on nonossifying fibromas and giant, cell lesions. Results: Pathogenic germline NF1 mutations Were identified 13 of 14 patients with multiple cafe-au-lait macules and niultiple non-ossifying fibromas or giant cell lesions ("classicar Jaffe-Campanacci syndrome); all 13 also fulfilled the National Institues of Health diagnostic criteria for neurofibromatosis type 1. Somatic NFI mutations were detected in two giant cell lesions but not in two nonossifying fibromas. No SPRED1 or GNAS1 (exon 8) mutations were detected in the seven NF1-negative patients with Jaffe-Campanacci syndrome, nonossifying fibromas, or giant cell lesions. Conclusion: In this study, the majority of patients with cafe-au-lait macules and nonossifying fibromas Or giant cell lesions harbored a pathogenic gerinline NF1 mutation,suggesting that many Jaffe-Campanacci syndrome cases may-actually have neurofibromatosis type 1. We provide the first proof of specific somatic second-hit mutations affecting NFI in two giant cell lesions from two unrelated patients, establishing these as neurofibromatosis type 1-associated tumors.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
giant cell lesion, cafe-au-lait macule, Jaffe-Campanacci syndrome, neurofibromatosis type 1, nonossifying-fibroma, GIANT-CELL GRANULOMA, OF-THE-LITERATURE, NF1 GENE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MUTATIONAL SPECTRUM, PHENOTYPE, CHERUBISM, DELETIONS, TUMORS, IDENTIFICATION
journal title
GENETICS IN MEDICINE
Genet. Med.
volume
16
issue
6
pages
448 - 459
Web of Science type
Article
Web of Science id
000337011800005
JCR category
GENETICS & HEREDITY
JCR impact factor
7.329 (2014)
JCR rank
15/167 (2014)
JCR quartile
1 (2014)
ISSN
1098-3600
DOI
10.1038/gim.2013.163
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
4382736
handle
http://hdl.handle.net/1854/LU-4382736
date created
2014-05-13 15:28:44
date last changed
2016-12-19 15:46:04
@article{4382736,
  abstract     = {Purpose: {\textacutedbl}Jaffe-Campanacci syndrome{\textacutedbl} describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and cafe-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1. 
Methods: We performed germline NF1, SPRED1, and GNAS1 (exon 8) mutation testing on patients with Jaffe-Cainpanacci syndrome of Jaffe-Campanacci syndrome-related features, We also performed somatic NF1 mutation testing on nonossifying fibromas and giant, cell lesions. 
Results: Pathogenic germline NF1 mutations Were identified 13 of 14 patients with multiple cafe-au-lait macules and niultiple non-ossifying fibromas or giant cell lesions ({\textacutedbl}classicar Jaffe-Campanacci syndrome); all 13 also fulfilled the National Institues of Health diagnostic criteria for neurofibromatosis type 1. Somatic NFI mutations were detected in two giant cell lesions but not in two nonossifying fibromas. No SPRED1 or GNAS1 (exon 8) mutations were detected in the seven NF1-negative patients with Jaffe-Campanacci syndrome, nonossifying fibromas, or giant cell lesions. 
Conclusion: In this study, the majority of patients with cafe-au-lait macules and nonossifying fibromas Or giant cell lesions harbored a pathogenic gerinline NF1 mutation,suggesting that many Jaffe-Campanacci syndrome cases may-actually have neurofibromatosis type 1. We provide the first proof of specific somatic second-hit mutations affecting NFI in two giant cell lesions from two unrelated patients, establishing these as neurofibromatosis type 1-associated tumors.},
  author       = {Stewart, Douglas R and Brems, Hilde and Gomes, Alicia G and Ruppert, Sarah L and Callens, Tom and Williams, Jennifer and Claes, Kathleen and Bober, Michael B and Hachen, Rachel and Kaban, Leonard B and Li, Hua and Lin, Angela and McDonald, Marie and Melancon, Serge and Ortenberg, June and Radtke, Heather and Samson, Ignace and Saul, Robert A and Shen, Joseph and Siqveland, Elizabeth and Toler, Tomi L and van Maarle, Merel and Wallace, Margaret and Williams, Misti and Legius, Eric and Messiaen, Ludwine},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  keyword      = {giant cell lesion,cafe-au-lait macule,Jaffe-Campanacci syndrome,neurofibromatosis type 1,nonossifying-fibroma,GIANT-CELL GRANULOMA,OF-THE-LITERATURE,NF1 GENE,ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS,MUTATIONAL SPECTRUM,PHENOTYPE,CHERUBISM,DELETIONS,TUMORS,IDENTIFICATION},
  language     = {eng},
  number       = {6},
  pages        = {448--459},
  title        = {Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder},
  url          = {http://dx.doi.org/10.1038/gim.2013.163},
  volume       = {16},
  year         = {2014},
}

Chicago
Stewart, Douglas R, Hilde Brems, Alicia G Gomes, Sarah L Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes, et al. 2014. “Jaffe-Campanacci Syndrome, Revisited: Detailed Clinical and Molecular Analyses Determine Whether Patients Have Neurofibromatosis Type 1, Coincidental Manifestations, or a Distinct Disorder.” Genetics in Medicine 16 (6): 448–459.
APA
Stewart, D. R., Brems, H., Gomes, A. G., Ruppert, S. L., Callens, T., Williams, J., Claes, K., et al. (2014). Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. GENETICS IN MEDICINE, 16(6), 448–459.
Vancouver
1.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, et al. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. GENETICS IN MEDICINE. 2014;16(6):448–59.
MLA
Stewart, Douglas R, Hilde Brems, Alicia G Gomes, et al. “Jaffe-Campanacci Syndrome, Revisited: Detailed Clinical and Molecular Analyses Determine Whether Patients Have Neurofibromatosis Type 1, Coincidental Manifestations, or a Distinct Disorder.” GENETICS IN MEDICINE 16.6 (2014): 448–459. Print.