Filip Farnebo

Publications (25)113.7 Total impact

• Article: Genetic and clinical characterization of sporadic cystic parathyroid tumours.

  Andrea Villablanca, Filip Farnebo, Bin Tean Teh, Lars-Ove Farnebo, Anders Höög, Catharina Larsson
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  ABSTRACT: The hyperparathyroidism--jaw tumour (HPT--JT) syndrome is one of the familial disorders characterized by primary hyperparathyroidism and has been linked to the chromosomal region of 1q32--q21. The parathyroid tumours related to this syndrome have shown loss of wild-type alleles at this locus suggesting that inactivation of a tumour suppressor gene might be responsible for the disease. In the majority of these tumours cysts are a prominent feature. By loss of heterozygosity (LOH) studies, we investigated the region of interest in an attempt to clarify its possible role in a series of cystic sporadic parathyroid adenomas. A total of 30 patients diagnosed with sporadic hyperparathyroidism were included in the study, genotyped with 17 polymorphic microsatellite markers at chromosome 1q, and additional markers from 1p and 11q13 which are commonly involved in sporadic parathyroid tumours. The cystic parathyroid tumours were characterized clinically, and immunohistochemistry against PTH was carried out to confirm the parathyroid origin of the cysts. LOH was found in six of 30 tumours (20%) on 1q, six of 30 tumours (20%) on 1p and five of 30 tumours (17%) on 11q13. We found a significant correlation between allelic alterations and the clinical parameters, tumour weight and PTH. Furthermore, we found a significant difference between tumour weight and PTH in cases of cystic parathyroid tumours compared with unselected sporadic cases. These results suggest that cystic parathyroid tumours might represent a new subgroup among parathyroid tumours based on the genetic and clinical findings. Loss of heterozygosity at 1q further supports the presence of a tumour suppressor gene at this locus.
  Clinical Endocrinology 03/2002; 56(2):261-9. · 3.17 Impact Factor
• Article: Multiple Endocrine Neoplasia Type 1 and the Search for the Genetic Trigger

  Filip Farnebo, Johannes Järhult, Lars-Ove Farnebo, Olov Nilsson, Bin Tean Teh, Jacob Lagercrantz, Günther Weber, Kerstin Sandelin, Catharina Larsson
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  ABSTRACT: Multiple endocrine neoplasia type 1 (MEN-1) is characterized by primary hyperparathyroidism, endocrine pancreatic-duodenal and anterior pituitary tumors. The diagnosis is challenging and involves the exclusion of other endocrine neoplasia syndromes with overlapping features. The predisposing genetic defect was assigned to chromosomal region 11q13 based on linkage analysis. Combined tumor and pedigree genotype analysis showed that allele losses in pancreatic, parathyroid and pituitary tumors eliminated the wild-type allele at the 11q13 loci, suggesting inactivation of a tumor suppressor gene in this region. A 5-Mb integrated map of the region has been established by the European consortium on MEN-1. Based on this mapping the critical interval was restricted to 2 Mb, a region within which eight candidate genes are located.
  Hormone Research in Paediatrics 08/1970; 47(4-6):179-184.
• Article: Evaluation of Retinoblastoma and Ki-67 Immunostaining as Diagnostic Markers of Benign and Malignant Parathyroid Disease

  Norman W. Thompson, Kerstin Sandelin, Catharina Larsson, Lars Grimelius, Bin Tean Teh, Ulla Aspenblad, Gert Auer, Stephen Twigg, Filip Farnebo, Lars-Ove Farnebo
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  ABSTRACT: RID="" ID="" Correspondence to: F. Farnebo, M.D., Ph.D. Peer Reviewed http://deepblue.lib.umich.edu/bitstream/2027.42/42410/1/268-23-1-68_23n1p68.pdf
• Source

  Available from: Tony Frisk

  Article: Expression of RET and its ligand complexes, GDNF/GFRalpha-1 and NTN/GFRalpha-2, in medullary thyroid carcinomas

  Tony Frisk, Filip Farnebo, Jan Zedenius, Lars Grimelius, Anders Höög, Göran Wallin, Catharina Larsson
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  ABSTRACT: Objective: Mutations in the RET proto-oncogene are found in about one third of sporadic medullary thyroid carcinomas (MTCs), mostly affecting codon 918. Glial cell line derived neurotropic factor (GDNF) and its membrane-bound GDNF family receptor alpha (GFRalpha-1), as well as neurturin (NTN) and its membrane-bound receptor GFRalpha-2 form a complex with the RET product, a receptor tyrosine kinase, resulting in downstream signaling to the nucleus. Design: To elucidate the role of these RET ligands in MTC tumorigenesis, their expression was determined in 15 MTC samples, one papillary thyroid carcinoma (PTC) and three normal thyroid tissue specimens. Methods: The mRNA expression of RET, GDNF, GFRalpha-1, NTN and GFRalpha-2 was investigated by mRNA in situ hybridization, and confirmed by reverse transcription-PCR analysis. Results: None of the five genes was expressed in the normal thyroids or in the PTC. All MTCs showed expression of RET, 13 expressed GDNF, 12 expressed GFRalpha-1 and 9 expressed NTN and GFRalpha-2. In 7 of the tumors RET, GDNF and GFRalpha-1 were expressed at high levels, and in five of these seven tumors NTN and GFRalpha-2 genes were also expressed at high levels. The high level of expression was preferentially seen in tumor cells adjacent to stroma and connective tissue. All MTCs without expression of the RET ligands harbored the RET codon 918 mutation. Conclusions: The results suggest that this signaling pathway is important for MTC development, and that it may be activated by expression of the RET ligand complexes by the tumor cells themselves.
  European Journal of Endocrinology. 142:643-649.
• Article: [Late skin infections following tsunami injuries].

  Björn Petrini, Filip Farnebo, Pia Appelgren
  Lakartidningen 102(14):1079.