Searchable abstracts of presentations at key conferences in endocrinology

ea0029p46 | Adrenal cortex | ICEECE2012

Differential methylation signature in benign and malignant cortisol producing adrenocortical tumors

Akerstrom T. , Ahmad T. , Hellman P. , Bjorklund P.

Background: Adrenocortical carcinomas (ACC) are rare tumors with an incidence of 1–2 per million. Although rare, it is an aggressive endocrine cancer with poor prognosis. As of today there is no reliable diagnostic biomarker to distinguish benign tumors from malignant tumors. Global changes in DNA methylation and DNA promoter hypermethylation are important events in tumorigenesis. Promoter hypermethylation can cause silencing of tumour suppressor genes or lead to abnormal...

ea0029p114 | Adrenal medulla | ICEECE2012

Next generation sequencing is a cost effective and time saving method in clinical genetic screening of patients with pheochromocytomas

Crona J. , Delgado Verdugo A. , Granberg D. , Welin S. , Stalberg P. , Hellman P. , Bjorklund P.

Background: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30–40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAX. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing N...

ea0019p185 | Endocrine tumours and neoplasia | SFEBES2009

The KL (klotho) gene is epigenetically silenced in primary hyperparathyroid tumours

Bjorklund P , Krajisnik T , AEkerstrom G , Larsson T , Westin G

Background: Klotho was first identified as a gene involved in aging. A recent publication identified klotho as a possible tumour suppressor in breast cancer. We have previously reported decreased expression of klotho in tumours of primary hyperparathyroidism, here we have investigated whether klotho expression is silenced by CpG methylation of the promoter region.Materials and methods: Methylation status of klotho was determined by MSP in 40 parathyroid ...

ea0029p805 | Endocrine tumours and neoplasia | ICEECE2012

Hypermethylated in cancer 1 (HIC1), a tumour suppressor gene epigenetically deregulated in hyperparathyroid tumours by histone modification

Svedlund J. , Koskinen Edblom S. , Marquez V. , Akerstrom G. , Bjorklund P. , Westin G.

Primary hyperparathyroidism (pHPT) resulting from parathyroid tumours is a common endocrine disorder with incompletely understood etiology. In renal failure, secondary hyperparathyroidism (sHPT) occurs with multiple tumour development as a result of calcium and vitamin D regulatory disturbance.The aim of the study was to investigate whether HIC1 may act as a tumour suppressor in the parathyroid glands and whether deregulated expression involves epigeneti...