TY - JOUR
T1 - Genetic testing in head and neck paraganglioma
T2 - Who, what, and why?
AU - Sridhara, Shankar K.
AU - Yener, Murat
AU - Hanna, Ehab Y.
AU - Rich, Thereasa
AU - Jimenez, Camilo
AU - Kupferman, Michael E.
PY - 2013
Y1 - 2013
N2 - Background Genetic testing in head and neck paragangliomas (HNPG) can have profound implications in patient and family counseling. Methods Retrospective review was performed of patients with HNPG at a cancer care center from 1970 to present. Patient demographics, disease patterns, outcomes, and genetic mutations were analyzed. Results We identified 26 patients with available genetic testing results. Sixteen had mutations. Succinate dehydrogenase gene, sub unit D (SDHD) accounted for 75% of mutations, of which P81L accounted for 75%. The remainder had SDHB mutations. Patients with mutations were younger (average age 39.5 years versus 48.4 years), 63% (versus 40%) had multiple tumors, 94% (60%) had at least one carotid body tumor, and family history was positive in 38% (20%). Conclusion Patients suspected of heritable HNPG should undergo testing first at the SDHD and SDHB loci, and those with younger age, multiple tumors, carotid body tumors, and positive family history are more likely to have mutations.
AB - Background Genetic testing in head and neck paragangliomas (HNPG) can have profound implications in patient and family counseling. Methods Retrospective review was performed of patients with HNPG at a cancer care center from 1970 to present. Patient demographics, disease patterns, outcomes, and genetic mutations were analyzed. Results We identified 26 patients with available genetic testing results. Sixteen had mutations. Succinate dehydrogenase gene, sub unit D (SDHD) accounted for 75% of mutations, of which P81L accounted for 75%. The remainder had SDHB mutations. Patients with mutations were younger (average age 39.5 years versus 48.4 years), 63% (versus 40%) had multiple tumors, 94% (60%) had at least one carotid body tumor, and family history was positive in 38% (20%). Conclusion Patients suspected of heritable HNPG should undergo testing first at the SDHD and SDHB loci, and those with younger age, multiple tumors, carotid body tumors, and positive family history are more likely to have mutations.
KW - carotid body tumor
KW - genetic testing
KW - mutation
KW - paraganglioma
KW - succinate dehydrogenase
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U2 - 10.1055/s-0033-1342924
DO - 10.1055/s-0033-1342924
M3 - Article
C2 - 24436918
AN - SCOPUS:84880567731
SN - 2193-634X
VL - 74
SP - 236
EP - 240
JO - Journal of Neurological Surgery, Part B: Skull Base
JF - Journal of Neurological Surgery, Part B: Skull Base
IS - 4
ER -