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Genetics and the Clinical Approach to Paragangliomas

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Genetics and the Clinical Approach to Paragangliomas. / Schulte, K. -M.; Talat, N.; Galata, G. et al.

In: Hormone and Metabolic Research, Vol. 46, No. 13, 12.2014, p. 964-973.

Research output: Contribution to journalArticlepeer-review

Harvard

Schulte, K-M, Talat, N, Galata, G, Aylwin, S, Izatt, L, Eisenhofer, G, Barthel, A & Bornstein, SR 2014, 'Genetics and the Clinical Approach to Paragangliomas', Hormone and Metabolic Research, vol. 46, no. 13, pp. 964-973. https://doi.org/10.1055/s-0034-1383581

APA

Schulte, K. -M., Talat, N., Galata, G., Aylwin, S., Izatt, L., Eisenhofer, G., Barthel, A., & Bornstein, S. R. (2014). Genetics and the Clinical Approach to Paragangliomas. Hormone and Metabolic Research, 46(13), 964-973. https://doi.org/10.1055/s-0034-1383581

Vancouver

Schulte K-M, Talat N, Galata G, Aylwin S, Izatt L, Eisenhofer G et al. Genetics and the Clinical Approach to Paragangliomas. Hormone and Metabolic Research. 2014 Dec;46(13):964-973. https://doi.org/10.1055/s-0034-1383581

Author

Schulte, K. -M. ; Talat, N. ; Galata, G. et al. / Genetics and the Clinical Approach to Paragangliomas. In: Hormone and Metabolic Research. 2014 ; Vol. 46, No. 13. pp. 964-973.

Bibtex Download

@article{17b242438c624645af1db544ad5685b7,
title = "Genetics and the Clinical Approach to Paragangliomas",
abstract = "This study analyses new information on gene mutations in paragangliomas and puts them into a clinical context. A suspicion of malignancy is critical to determine the workup and surgical approach in adrenal (A-PGL) and extra-adrenal (E-PGL) paragangliomas (PGLs). Malignancy rates vary with location, family history, and gene tests results. Currently there is no algorithm incorporating the above information for clinical use. A sum of 1 821 articles were retrieved from PubMed using the search terms “paraganglioma genetics”. Thirty-seven articles were selected of which 9 were analyzed. It was found that 599/2 487 (24%) patients affected with paragangliomas had a germline mutation. Of these 30.2% were mutations in SDHB, 25% VHL, 19.4% RET, 18.4% SDHD, 5.0% NF1, and 2.0% SDHC genes. A family history was positive in 18.1–64.3% of patients. Adrenal PGLs accounted for 55.1% in mutation (+) and 81.0% in mutation (−) patients (RR 1.2, p<0.0001). Bilateral A-PGLs accounted for 56.4% in mutation (+) and 3.2% in mutation (−) patients (RR 8.7, p<0.0001). E-PGL were found in 33.6% of mut+ and 17.3% of mut– (RR 1.7, p<0.0001). In mutation (+) patients PGLs malignancy varied with location, adrenal (6.4%) thoraco-abdominal E-PGL (38%), H & N E-PGL (10%). Malignancy rates were 8.2% in mutation (−) and lower in mutation (+) PGLs except for SDHB 36.5% and SDHC 8.3%. Exclusion of a mutation lowered the probability of malignancy significantly in E-PGL (RR 0.03 (95% CI 0.1–0.6); p<0.001). Mutation analysis provides valuable preoperative information to assess the risk of malignancy in A-PG and E-PGLs and should be considered in the work up of all E-PGL lesions.",
keywords = "Family, Genetic Predisposition to Disease, Humans, Mutation/genetics, Mutation Rate, Paraganglioma/genetics",
author = "Schulte, {K. -M.} and N. Talat and G. Galata and S. Aylwin and L. Izatt and G. Eisenhofer and A. Barthel and Bornstein, {S. R.}",
note = "{\textcopyright} Georg Thieme Verlag KG Stuttgart · New York.",
year = "2014",
month = dec,
doi = "10.1055/s-0034-1383581",
language = "English",
volume = "46",
pages = "964--973",
journal = "Hormone and Metabolic Research",
issn = "0018-5043",
publisher = "Georg Thieme Verlag",
number = "13",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Genetics and the Clinical Approach to Paragangliomas

AU - Schulte, K. -M.

AU - Talat, N.

AU - Galata, G.

AU - Aylwin, S.

AU - Izatt, L.

AU - Eisenhofer, G.

AU - Barthel, A.

AU - Bornstein, S. R.

N1 - © Georg Thieme Verlag KG Stuttgart · New York.

PY - 2014/12

Y1 - 2014/12

N2 - This study analyses new information on gene mutations in paragangliomas and puts them into a clinical context. A suspicion of malignancy is critical to determine the workup and surgical approach in adrenal (A-PGL) and extra-adrenal (E-PGL) paragangliomas (PGLs). Malignancy rates vary with location, family history, and gene tests results. Currently there is no algorithm incorporating the above information for clinical use. A sum of 1 821 articles were retrieved from PubMed using the search terms “paraganglioma genetics”. Thirty-seven articles were selected of which 9 were analyzed. It was found that 599/2 487 (24%) patients affected with paragangliomas had a germline mutation. Of these 30.2% were mutations in SDHB, 25% VHL, 19.4% RET, 18.4% SDHD, 5.0% NF1, and 2.0% SDHC genes. A family history was positive in 18.1–64.3% of patients. Adrenal PGLs accounted for 55.1% in mutation (+) and 81.0% in mutation (−) patients (RR 1.2, p<0.0001). Bilateral A-PGLs accounted for 56.4% in mutation (+) and 3.2% in mutation (−) patients (RR 8.7, p<0.0001). E-PGL were found in 33.6% of mut+ and 17.3% of mut– (RR 1.7, p<0.0001). In mutation (+) patients PGLs malignancy varied with location, adrenal (6.4%) thoraco-abdominal E-PGL (38%), H & N E-PGL (10%). Malignancy rates were 8.2% in mutation (−) and lower in mutation (+) PGLs except for SDHB 36.5% and SDHC 8.3%. Exclusion of a mutation lowered the probability of malignancy significantly in E-PGL (RR 0.03 (95% CI 0.1–0.6); p<0.001). Mutation analysis provides valuable preoperative information to assess the risk of malignancy in A-PG and E-PGLs and should be considered in the work up of all E-PGL lesions.

AB - This study analyses new information on gene mutations in paragangliomas and puts them into a clinical context. A suspicion of malignancy is critical to determine the workup and surgical approach in adrenal (A-PGL) and extra-adrenal (E-PGL) paragangliomas (PGLs). Malignancy rates vary with location, family history, and gene tests results. Currently there is no algorithm incorporating the above information for clinical use. A sum of 1 821 articles were retrieved from PubMed using the search terms “paraganglioma genetics”. Thirty-seven articles were selected of which 9 were analyzed. It was found that 599/2 487 (24%) patients affected with paragangliomas had a germline mutation. Of these 30.2% were mutations in SDHB, 25% VHL, 19.4% RET, 18.4% SDHD, 5.0% NF1, and 2.0% SDHC genes. A family history was positive in 18.1–64.3% of patients. Adrenal PGLs accounted for 55.1% in mutation (+) and 81.0% in mutation (−) patients (RR 1.2, p<0.0001). Bilateral A-PGLs accounted for 56.4% in mutation (+) and 3.2% in mutation (−) patients (RR 8.7, p<0.0001). E-PGL were found in 33.6% of mut+ and 17.3% of mut– (RR 1.7, p<0.0001). In mutation (+) patients PGLs malignancy varied with location, adrenal (6.4%) thoraco-abdominal E-PGL (38%), H & N E-PGL (10%). Malignancy rates were 8.2% in mutation (−) and lower in mutation (+) PGLs except for SDHB 36.5% and SDHC 8.3%. Exclusion of a mutation lowered the probability of malignancy significantly in E-PGL (RR 0.03 (95% CI 0.1–0.6); p<0.001). Mutation analysis provides valuable preoperative information to assess the risk of malignancy in A-PG and E-PGLs and should be considered in the work up of all E-PGL lesions.

KW - Family

KW - Genetic Predisposition to Disease

KW - Humans

KW - Mutation/genetics

KW - Mutation Rate

KW - Paraganglioma/genetics

U2 - 10.1055/s-0034-1383581

DO - 10.1055/s-0034-1383581

M3 - Article

C2 - 25014332

VL - 46

SP - 964

EP - 973

JO - Hormone and Metabolic Research

JF - Hormone and Metabolic Research

SN - 0018-5043

IS - 13

ER -

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