Background The role of germline and somatic SMARCB1 gene mutations in malignant rhabdoid tumour (MRT) predisposition is well known. Germline SMARCB1 mutations have also recently been identified in a subset of individuals with schwannomatosis. Surprisingly, MRT predisposition and schwannomatosis have never been reported to co-occur in a family. The correlation between genotype and phenotype for mutations in SMARCB1 has not been determined. Results We have identified a germline 2631 bp duplication that includes exon 6 of SMARCB1 in a unique family with a four generation history of MRT predisposition and schwannomatosis. This duplication segregates with disease in individuals affected with both conditions, linking MRT predisposition and schwannomatosis as components of the same syndrome in this family. Conclusion The unique combination of tumours that result from the duplication described in this report may provide important clues about the mechanisms that influence the phenotype associated with a given SMARCB1 mutation.

No abstract

No abstract

Assay of the serum alpha-1-acid glycoprotein (SAGP) produced by the liver in response to many disease states is shown to reflect prognosis and monitor progress in patients with early, recurrent and disseminated breast cancer. Eighteen of 26 patients with localized breast cancer and positive bone scans had elevated SAGP when first seen, but within 5 months of treatment 5 further patients with positive bone scans developed an elevated SAGP. Furthermore, an initially abnormal SAGP level became normal within 5 months in 5 of 6 patients with negative bone scans. While elevated SAGP in breast cancer correlates with positive bone scans, a series of normal values may indicate patients without early haematogenous dissemination of their disease.