Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: A systematic review

Juan Brito Campana, Noor Asi, Irina Bancos, Michael R. Gionfriddo, Claudia L. Zeballos-Palacios, Aaron L. Leppin, Chaitanya Undavalli, Zhen Wang, Juan P. Domecq, Gabriela Prustsky, Tarig A. Elraiyah, Larry J. Prokop, Victor Manuel Montori, Mohammad H Murad

Research output: Contribution to journalArticle

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Abstract

Background: The presence of germline mutations in sporadic pheochromocytomas and paragangliomas (SPPs) may change the clinical management of both index patients and their family members. However, the frequency of germline mutations in SPPs is unknown. Objective: To describe the frequency of germline mutations in SPPs and to determine the value of testing index patients and their family members for these mutations. Methods: We searched databases through June 2012 for observational studies of patients with SPPs who underwent germline genetic testing. The criteria used to define sporadic tumours were (i) the absence of a family history of PCC/PG, (ii) the absence of syndromic features, (iii) the absence of bilateral disease and (iv) the absence of metastatic disease. Results: We included 31 studies including 5031 patients (mean age 44). These patients received tests for any of these ten mutations: SDHAF2, RET, SDHD, SDHB, SDHC, VHL, TMEM127, MAX, Isocitrate Dehydrogenase Mutation (IDH) and NF1. The overall frequency of germline mutation in SPP was 551 of 5031 or 11%; when studies with patients fulfilling four criteria for sporadic tumours were used, the frequency was 171 of 1332 or 13%. The most common germline mutation was SDHB 167 of 3611 (4·6%). Little outcome data were available to assess the benefits of genetic testing in index cases and family members. Conclusions: The frequency of germline mutations in SPPs is approximately 11-13% and the most common mutations affect less than 1 in 20 patients. The value of testing for germline mutations in patients with SPPs and their family members is unknown, as the balance of potential benefits and harms remains unclear.

Original languageEnglish (US)
Pages (from-to)338-345
Number of pages8
JournalClinical Endocrinology
Volume82
Issue number3
DOIs
StatePublished - Mar 1 2015

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Paraganglioma
Germ-Line Mutation
Pheochromocytoma
Mutation
Genetic Testing
Isocitrate Dehydrogenase
Observational Studies
Neoplasms
Databases

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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Testing for germline mutations in sporadic pheochromocytoma/paraganglioma : A systematic review. / Brito Campana, Juan; Asi, Noor; Bancos, Irina; Gionfriddo, Michael R.; Zeballos-Palacios, Claudia L.; Leppin, Aaron L.; Undavalli, Chaitanya; Wang, Zhen; Domecq, Juan P.; Prustsky, Gabriela; Elraiyah, Tarig A.; Prokop, Larry J.; Montori, Victor Manuel; Murad, Mohammad H.

In: Clinical Endocrinology, Vol. 82, No. 3, 01.03.2015, p. 338-345.

Research output: Contribution to journalArticle

Brito Campana, J, Asi, N, Bancos, I, Gionfriddo, MR, Zeballos-Palacios, CL, Leppin, AL, Undavalli, C, Wang, Z, Domecq, JP, Prustsky, G, Elraiyah, TA, Prokop, LJ, Montori, VM & Murad, MH 2015, 'Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: A systematic review', Clinical Endocrinology, vol. 82, no. 3, pp. 338-345. https://doi.org/10.1111/cen.12530
Brito Campana, Juan ; Asi, Noor ; Bancos, Irina ; Gionfriddo, Michael R. ; Zeballos-Palacios, Claudia L. ; Leppin, Aaron L. ; Undavalli, Chaitanya ; Wang, Zhen ; Domecq, Juan P. ; Prustsky, Gabriela ; Elraiyah, Tarig A. ; Prokop, Larry J. ; Montori, Victor Manuel ; Murad, Mohammad H. / Testing for germline mutations in sporadic pheochromocytoma/paraganglioma : A systematic review. In: Clinical Endocrinology. 2015 ; Vol. 82, No. 3. pp. 338-345.
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abstract = "Background: The presence of germline mutations in sporadic pheochromocytomas and paragangliomas (SPPs) may change the clinical management of both index patients and their family members. However, the frequency of germline mutations in SPPs is unknown. Objective: To describe the frequency of germline mutations in SPPs and to determine the value of testing index patients and their family members for these mutations. Methods: We searched databases through June 2012 for observational studies of patients with SPPs who underwent germline genetic testing. The criteria used to define sporadic tumours were (i) the absence of a family history of PCC/PG, (ii) the absence of syndromic features, (iii) the absence of bilateral disease and (iv) the absence of metastatic disease. Results: We included 31 studies including 5031 patients (mean age 44). These patients received tests for any of these ten mutations: SDHAF2, RET, SDHD, SDHB, SDHC, VHL, TMEM127, MAX, Isocitrate Dehydrogenase Mutation (IDH) and NF1. The overall frequency of germline mutation in SPP was 551 of 5031 or 11{\%}; when studies with patients fulfilling four criteria for sporadic tumours were used, the frequency was 171 of 1332 or 13{\%}. The most common germline mutation was SDHB 167 of 3611 (4·6{\%}). Little outcome data were available to assess the benefits of genetic testing in index cases and family members. Conclusions: The frequency of germline mutations in SPPs is approximately 11-13{\%} and the most common mutations affect less than 1 in 20 patients. The value of testing for germline mutations in patients with SPPs and their family members is unknown, as the balance of potential benefits and harms remains unclear.",
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T1 - Testing for germline mutations in sporadic pheochromocytoma/paraganglioma

T2 - A systematic review

AU - Brito Campana, Juan

AU - Asi, Noor

AU - Bancos, Irina

AU - Gionfriddo, Michael R.

AU - Zeballos-Palacios, Claudia L.

AU - Leppin, Aaron L.

AU - Undavalli, Chaitanya

AU - Wang, Zhen

AU - Domecq, Juan P.

AU - Prustsky, Gabriela

AU - Elraiyah, Tarig A.

AU - Prokop, Larry J.

AU - Montori, Victor Manuel

AU - Murad, Mohammad H

PY - 2015/3/1

Y1 - 2015/3/1

N2 - Background: The presence of germline mutations in sporadic pheochromocytomas and paragangliomas (SPPs) may change the clinical management of both index patients and their family members. However, the frequency of germline mutations in SPPs is unknown. Objective: To describe the frequency of germline mutations in SPPs and to determine the value of testing index patients and their family members for these mutations. Methods: We searched databases through June 2012 for observational studies of patients with SPPs who underwent germline genetic testing. The criteria used to define sporadic tumours were (i) the absence of a family history of PCC/PG, (ii) the absence of syndromic features, (iii) the absence of bilateral disease and (iv) the absence of metastatic disease. Results: We included 31 studies including 5031 patients (mean age 44). These patients received tests for any of these ten mutations: SDHAF2, RET, SDHD, SDHB, SDHC, VHL, TMEM127, MAX, Isocitrate Dehydrogenase Mutation (IDH) and NF1. The overall frequency of germline mutation in SPP was 551 of 5031 or 11%; when studies with patients fulfilling four criteria for sporadic tumours were used, the frequency was 171 of 1332 or 13%. The most common germline mutation was SDHB 167 of 3611 (4·6%). Little outcome data were available to assess the benefits of genetic testing in index cases and family members. Conclusions: The frequency of germline mutations in SPPs is approximately 11-13% and the most common mutations affect less than 1 in 20 patients. The value of testing for germline mutations in patients with SPPs and their family members is unknown, as the balance of potential benefits and harms remains unclear.

AB - Background: The presence of germline mutations in sporadic pheochromocytomas and paragangliomas (SPPs) may change the clinical management of both index patients and their family members. However, the frequency of germline mutations in SPPs is unknown. Objective: To describe the frequency of germline mutations in SPPs and to determine the value of testing index patients and their family members for these mutations. Methods: We searched databases through June 2012 for observational studies of patients with SPPs who underwent germline genetic testing. The criteria used to define sporadic tumours were (i) the absence of a family history of PCC/PG, (ii) the absence of syndromic features, (iii) the absence of bilateral disease and (iv) the absence of metastatic disease. Results: We included 31 studies including 5031 patients (mean age 44). These patients received tests for any of these ten mutations: SDHAF2, RET, SDHD, SDHB, SDHC, VHL, TMEM127, MAX, Isocitrate Dehydrogenase Mutation (IDH) and NF1. The overall frequency of germline mutation in SPP was 551 of 5031 or 11%; when studies with patients fulfilling four criteria for sporadic tumours were used, the frequency was 171 of 1332 or 13%. The most common germline mutation was SDHB 167 of 3611 (4·6%). Little outcome data were available to assess the benefits of genetic testing in index cases and family members. Conclusions: The frequency of germline mutations in SPPs is approximately 11-13% and the most common mutations affect less than 1 in 20 patients. The value of testing for germline mutations in patients with SPPs and their family members is unknown, as the balance of potential benefits and harms remains unclear.

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