ABSTRACT Allelic loss of the long arm of chromosome 11 is frequent in neuroendocrine tumors (NET) of different organs. However, the _MEN1_ gene on 11q13 is mutated only in a subset of NET

and allelic losses on 11q frequently extend to the telomere. In this genetic region lies the tumor suppressor gene _SDHD_ which is associated with hereditary paragangliomas (_PGL1_). We

sought to determine whether _SDHD_ plays a role in the development of sporadic NET. By mutation and deletion analysis of _SDHD_ we were unable to detect any _SDHD_ mutation in 45 NET of the

lung, gastrointestinal tract, pancreas or parathyroid. However, we found allelic deletions in 20 to 50% of all tumors but parathyroid adenomas. Furthermore, we found heterozygous germline

demonstrate that somatic _SDHD_ mutations are rare in sporadic NET. However, LOH alone could lead to a complete loss of function since _SDHD_ is an imprinted gene. Furthermore, we describe

two germline variants possibly causing hereditary paragangliomas. Access through your institution Buy or subscribe This is a preview of subscription content, access via your institution

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AND HEREDITARY TUMORS OF RET- AND SDHB-, BUT NOT VHL-ASSOCIATED CLUSTERS OF PHEOCHROMOCYTOMA/PARAGANGLIOMA Article Open access 04 May 2021 NOVEL SOMATIC VARIANTS INVOLVED IN BIOCHEMICAL

ACTIVITY OF PURE GROWTH HORMONE-SECRETING PITUITARY ADENOMA WITHOUT _GNAS_ VARIANT Article Open access 16 August 2021 VHL MOSAICISM: THE ADDED VALUE OF MULTI-TISSUE ANALYSIS Article Open

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Saremaslani P, Muletta-Feurer S, Matter C, Roth J, Heitz PU, Komminoth P . 2000 _Am. J. Pathol._ 157: 1431–1438 Download references ACKNOWLEDGEMENTS Supported by Swiss Cancer League grant

SKL-997-02-2000 and Swiss National Science Foundation grant 31-618845.00. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Pathology, University Hospital, Zurich, 8091,

Switzerland Aurel Perren, André Barghorn, Sonja Schmid, Parvin Saremaslani, Jürgen Roth & Philipp U Heitz * Institue of Pathology, Baden, 5404, Switzerland Paul Komminoth Authors * Aurel

Perren View author publications You can also search for this author inPubMed Google Scholar * André Barghorn View author publications You can also search for this author inPubMed Google

Scholar * Sonja Schmid View author publications You can also search for this author inPubMed Google Scholar * Parvin Saremaslani View author publications You can also search for this author

inPubMed Google Scholar * Jürgen Roth View author publications You can also search for this author inPubMed Google Scholar * Philipp U Heitz View author publications You can also search for

this author inPubMed Google Scholar * Paul Komminoth View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Aurel Perren.

RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Perren, A., Barghorn, A., Schmid, S. _et al._ Absence of somatic _SDHD_ mutations in sporadic

neuroendocrine tumors and detection of two germline variants in paraganglioma patients. _Oncogene_ 21, 7605–7608 (2002). https://doi.org/10.1038/sj.onc.1205812 Download citation * Received:

03 April 2002 * Revised: 28 June 2002 * Accepted: 28 June 2002 * Published: 18 October 2002 * Issue Date: 24 October 2002 * DOI: https://doi.org/10.1038/sj.onc.1205812 SHARE THIS ARTICLE

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by the Springer Nature SharedIt content-sharing initiative KEYWORDS * _SDHD_ * endocrine tumors * mutation * allelic loss