期刊
JOURNAL OF ORTHOPAEDIC RESEARCH
卷 30, 期 10, 页码 1535-1540出版社
WILEY-BLACKWELL
DOI: 10.1002/jor.22121
关键词
congenital pseudarthrosis of the tibia; neurofibromatosis type 1; fibrous hamartoma; loss of heterozygosity; clonality
类别
资金
- Seoul National University Hospital Research Fund [04-2008-0880]
- Korea Healthcare Technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea [A080588]
The pathogenic mechanism responsible for congenital pseudarthrosis of the tibia (CPT) is not well understood although the possibility of double inactivation of the neurofibromatosis type 1 (Nf1) gene has been suggested. In the present study, loss of heterozygosity was investigated in fibrous hamartoma tissues harvested from 16 patients with CPT associated with NF1 using four genetic markers that span the Nf1 gene. Based on the assumption that a single cell with double inactivation of Nf1 would undergo clonal growth and cause fibrous hamartoma, we investigated clonality in fibrous hamartoma tissues by analyzing X-chromosome inactivation patterns in 11 female patients. Loss of Nf1 heterozygosity in fibrous hamartoma tissues was observed at one or two genetic markers in 4 out of the 16 patients tested. In clonality assays, 3 of 11 patients showed a clonal growth pattern, 5 a non-clonal pattern, and 3 were non-informative. These findings support that double inactivation of the Nf1 gene and subsequent clonal growth could be a pathogenic feature of the fibrous hamartoma tissue at least in some of the CPT but might not be essential requirements of CPT development. (c) 2012 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 30:15351540, 2012
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