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

(2014) GENETICS IN MEDICINE. 16(6). p.448-459
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Organization
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.
Keywords
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

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Citation

Please use this url to cite or link to this publication:

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.
@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},
}

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