Title |
Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb
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Published in |
BMC Medical Genomics, January 2015
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DOI | 10.1186/s12920-015-0076-2 |
Pubmed ID | |
Authors |
Elisabeth Castellanos, Isabel Bielsa, Cristina Carrato, Imma Rosas, Ares Solanes, Cristina Hostalot, Emilio Amilibia, José Prades, Francesc Roca-Ribas, Conxi Lázaro, Ignacio Blanco, Eduard Serra, on behalf of the NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC |
Abstract |
A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics. This analysis is challenged by the fact that schwannomas in both conditions bear a somatic double inactivation of the NF2 gene. However, SMARCB1-associated schwannomas follow a four-hit, three-step model, in which both alleles of SMARCB1 and NF2 genes are inactivated in the tumor, with one of the steps being always the loss of a big part of chromosome 22 involving both loci. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 2% |
Unknown | 45 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 14 | 30% |
Researcher | 6 | 13% |
Student > Postgraduate | 5 | 11% |
Student > Ph. D. Student | 3 | 7% |
Student > Master | 3 | 7% |
Other | 7 | 15% |
Unknown | 8 | 17% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 16 | 35% |
Unspecified | 12 | 26% |
Biochemistry, Genetics and Molecular Biology | 4 | 9% |
Agricultural and Biological Sciences | 3 | 7% |
Veterinary Science and Veterinary Medicine | 1 | 2% |
Other | 2 | 4% |
Unknown | 8 | 17% |