Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma.

Autor: Cadiñanos J; Instituto de Medicina Oncológica y Molecular de Asturias, Asturias, Spain., Llorente JL, de la Rosa J, Villameytide JA, Illán R, Durán NS, Murias E, Cabanillas R
Jazyk: angličtina
Zdroj: Head & neck [Head Neck] 2011 Aug; Vol. 33 (8), pp. 1233-40. Date of Electronic Publication: 2010 Mar 22.
DOI: 10.1002/hed.21384
Abstrakt: Background: Paragangliomas (PGLs) are rare tumors arising either from sympathetic or parasympathetic-associated chromaffin tissue. PGLs can occur either sporadically or as part of a hereditary syndrome. Sympathetic head and neck PGLs are extremely rare tumors and only a few cases have been reported to date.
Methods: We report the pedigree of a patient with a head and neck PGL arising from the right sympathetic trunk. SDHD mutation analysis was performed using standard sequencing, multiplex ligation-dependent probe amplification, chromosome 11-specific comparative genome hybridization, and long-range/short-range polymerase chain reaction (PCR) approaches.
Results: A previously unreported chromosome 11q deletion encompassing 5 annotated genes (SDHD, DLAT, PIH1D2, C11Orf57, and TIMM8B) was detected in the proband.
Conclusion: PGL families considered "mutation-negative" may be attributable to large gene deletions not detectable by standard sequencing methods. Therefore, deletion analysis should be offered to families or individuals at risk for hereditary PGLs.
(Copyright © 2010 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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