Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism

Central giant cell lesion (CGCL) is a reactive bone lesion that occurs mainly in the mandible, characterized by the multinucleated osteoclast-like giant cells in a background of oval to spindle-shaped mononuclear cells. The etiology is unknown and occurs more commonly in young adults. Cherubism, a rare disease found predominantly in females has histologic characteristics indistinguishable from those of CGCL and is caused by mutations mostly present in exon 9 of the SH3BP2 gene. In this study, we investigated four cases of CGCL and one case of cherubism. DNA was extracted from peripheral blood and tumor tissue and all coding and flanking regions of the SH3BP2 amplified by PCR and directly sequenced to identify underlying mutations. Two novel mutations were found; a heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and a heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. These findings open a new window to investigate the possible relationship between the pathogenesis of the cherubism and CGCL.     

Effect of chymopapain on the meninges studied in an experimental model

The effect of chymopapain and contrast media in the epidural space on meninges has not been studied conclusively. The authors injected chymopapain into the epidural space of monkeys and measured the degree of arachnoid fibrosis that resulted. Animals were given injections of 1.2 mL of diatrizoate (280 mg iodine per milliliter), chymopapain (100 IU/mL), kaolin (100 mg/mL) (as a positive control), or saline (0.9%) (as a negative control). Three months later the animals were killed; the dural sac was removed intact and was fixed, sectioned, stained, and examined with light microscopy. Kaolin-treated animals developed mild to marked fibrosis of the dura. The saline- and diatrizoate-treated animals developed little or no evidence of fibrosis. One of four chymopapain-treated animals developed degenerative changes in dorsal nerve roots and fibrosis in the adjacent arachnoid. The other chymopapain-treated animals had little or no evidence of fibrosis. The studies suggest that neither diatrizoate nor chymopapain causes arachnoid fibrosis.     

Anterior commissure: anatomic-MR correlation and use as a landmark in three orthogonal planes

Correlation of cryomicrotomic and myelin-stained sections of human cadaver heads with spin-echo magnetic resonance (MR) images documents that MR imaging routinely displays the anterior commissure in three orthogonal planes as a distinct white-matter tract that resembles bicycle handlebars. The anterior commissure crosses the midline at the upper end of the lamina terminalis, just anterior to the anterior columns of the fornices. To each side of midline, it curves antero-inferolaterally and then postero-inferolaterally through the lateral nucleus of the globus pallidus to course with the white matter of the external and extreme capsules toward the middle and inferior temporal gyri. Because the anterior commissure is easily recognizable in all three planes at differing pulse sequences, the commissure has proved to be a major landmark for identification of the complex anatomy of this region, especially in sagittal sections.