ER, PR and HER-2 discordances between primary and recurrent cancer and their impact on survival of breast cancer patient / 临床与实验病理学杂志

Purpose To assess the frequency of discordances in ER, PR and HER-2 status between primary and recurrent cancer and the impact of the discordance on breast cancer patient survival. Method Immunohistochemistry and/or fluorescent in situ hybridization was used to evaluate ER, PR and HER-2 status of primary and recurrent cancer in 62 breast cancer patients. The correlation between discordances in ER, PR and HER-2 receptors and clinicopathologic characteristics and patient survival was analyzed. Results Among 62 patients with breast recurrent cancer, discordance rate for ER, PR, and HER-2 was found in 6 (9.7％), 9 (14.5％) and 3 (4.8％) patients, respectively. During the follow-up period the ER-discordant cases had a poorer overall survival (median 29 months vs 44 months, P=0.021) and post-recurrence survival (median 6 months vs 15 months, P=0.027), compared with the concordant cases. No impact on overall survival or post-recurrence survival was observed for PR and HER-2 discordance when compared with the respective concordant cases (P> 0.05 for all).Conclusion Our results demonstrate an evident change regarding ER, PR and HER-2 between breast primary and recurrent cancer, and the ER unstable status in breast cancer suggust a worse prognosis.

Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the underlying genetic defect in two Chinese families with hereditary multiple exostoses and provide genetic counseling.</p><p><b>METHODS</b>Potential mutations in EXT1 and EXT2 genes in the probands were detected by direct sequencing of PCR-amplified exons. Suspected mutations were verified in all available family members and 200 unrelated healthy controls.</p><p><b>RESULTS</b>A heterozygous frameshift mutation c.346_356delinsTAT in exon 1 of EXT1 and a heterozygous deletion mutation c.2009-2012del(TCAA) in exon 10 of EXT1 were respectively detected in affected members from the two families. The same mutations were not detected in unaffected members and 200 unrelated healthy controls. No mutations in EXT2 were detected in the two families.</p><p><b>CONCLUSION</b>Two novel mutations of EXT1 have been detected in association with hereditary multiple exostoses in two Chinese families. Above results have provided a basis for genetic counseling for the two families and expanded the spectrum of EXT1 mutations.</p>