Aarne Kivioja | Search PubMed

PubMed2005

Gene amplifications in osteosarcoma-CGH microarray analysis.

Little is known about the genomic alterations underlying osteosarcoma. We performed a genomewide high-resolution gene copy number analysis of 22 osteosarcoma samples using comparative genomic hybridization on a cDNA microarray that contained cDNA clones of about 13,000 genes. Nineteen of the 22 cases had amplifications that on average spanned more than 1 Mb and contained more than 10 genes. Numerous regions of gain and loss were identified, and their boundaries were defined at high resolution. Novel amplicons were found at 14q11, 17q25, and 22q11-q13. Earlier-known large amplified regions were detected at 12q11-q15, 8q24, 6p12-p13, and 17p11-p13 in 8, 6, 5, and 4 of the 22 samples, respectively. Amplification of 12q was observed more frequently (36% of the cases) than previously reported. Previously known small amplicons at 1p34-p36, 1q21, 19q13, and 21q22 were seen in at least three cases. Our results implicate TOM1L2 and CYP27B1 as having roles as novel targets for the 17p and 12q amplicons, respectively. Details (www.helsinki.fi/cmg) of the amplified genes in each amplicon provide valuable raw data for further in silico studies.

Adolescent↗

PubMed2004

Radicular lower extremity pain as the first symptom of primary hyperparathyroidism.

Clinical symptoms of hyperparathyroidism are generally nausea, vomiting, fatigue, constipation, and hypotonicity of the muscles and ligaments; bone pain and tenderness are also seen but are more common in secondary hyperparathyroidism. We report a histologically confirmed case of a 28-year-old man whose sole symptom of primary hyperparathyroidism was lower extremity radicular pain due to a vertebral brown tumor. Magnetic resonance imaging demonstrated brown tumor to be hyperintense on T2-weighted and slightly hypointense on T1-weighted sequences; it showed intense contrast enhancement with gadolinium. Because brown tumors usually contain hemosiderin a short T2 should have been expected, but this was not seen in our case. Healing resulted in decreasing contrast enhancement on T1-weighted sequences and increasingly short T2. To our knowledge, this is the first report of a lumbar vertebral brown tumor associated with primary hyperparathyroidism.

Adenoma↗