Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

J A Rijken; N D Niemeijer; C R Leemans; K Eijkelenkamp; A N A van der Horst-Schrivers; A van Berkel; H J L M Timmers; H P M Kunst; P H L T Bisschop; M F van Dooren; F J Hes; J C Jansen; E P M Corssmit; E F Hensen

doi:10.1002/bjs5.39

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

J A Rijken, N D Niemeijer, C R Leemans, K Eijkelenkamp, A N A van der Horst-Schrivers, A van Berkel, H J L M Timmers, H P M Kunst, P H L T Bisschop, M F van Dooren, F J Hes, J C Jansen, E P M Corssmit, E F Hensen

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

BACKGROUND: Germline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.

METHODS: This was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.

RESULTS: In a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty-one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty-seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non-paraganglionic tumours.

CONCLUSION: If an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB-linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.

Original language	English
Pages (from-to)	62-69
Number of pages	8
Journal	BJS open
Volume	2
Issue number	2
DOIs	https://doi.org/10.1002/bjs5.39
Publication status	Published - Apr 2018
Externally published	Yes

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Rijken, J. A., Niemeijer, N. D., Leemans, C. R., Eijkelenkamp, K., van der Horst-Schrivers, A. N. A., van Berkel, A., Timmers, H. J. L. M., Kunst, H. P. M., Bisschop, P. H. L. T., van Dooren, M. F., Hes, F. J., Jansen, J. C., Corssmit, E. P. M., & Hensen, E. F. (2018). Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations. BJS open, 2(2), 62-69. https://doi.org/10.1002/bjs5.39

@article{68719b1dda6448eea3064a8a18707289,

title = "Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations",

abstract = "BACKGROUND: Germline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.METHODS: This was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.RESULTS: In a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty-one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty-seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non-paraganglionic tumours.CONCLUSION: If an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB-linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.",

author = "Rijken, {J A} and Niemeijer, {N D} and Leemans, {C R} and K Eijkelenkamp and {van der Horst-Schrivers}, {A N A} and {van Berkel}, A and Timmers, {H J L M} and Kunst, {H P M} and Bisschop, {P H L T} and {van Dooren}, {M F} and Hes, {F J} and Jansen, {J C} and Corssmit, {E P M} and Hensen, {E F}",

year = "2018",

month = apr,

doi = "10.1002/bjs5.39",

language = "English",

volume = "2",

pages = "62--69",

number = "2",

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Rijken, JA, Niemeijer, ND, Leemans, CR, Eijkelenkamp, K, van der Horst-Schrivers, ANA, van Berkel, A, Timmers, HJLM, Kunst, HPM, Bisschop, PHLT, van Dooren, MF, Hes, FJ, Jansen, JC, Corssmit, EPM & Hensen, EF 2018, 'Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations', BJS open, vol. 2, no. 2, pp. 62-69. https://doi.org/10.1002/bjs5.39

TY - JOUR

T1 - Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

AU - Rijken, J A

AU - Niemeijer, N D

AU - Leemans, C R

AU - Eijkelenkamp, K

AU - van der Horst-Schrivers, A N A

AU - van Berkel, A

AU - Timmers, H J L M

AU - Kunst, H P M

AU - Bisschop, P H L T

AU - van Dooren, M F

AU - Hes, F J

AU - Jansen, J C

AU - Corssmit, E P M

AU - Hensen, E F

PY - 2018/4

Y1 - 2018/4

N2 - BACKGROUND: Germline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.METHODS: This was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.RESULTS: In a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty-one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty-seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non-paraganglionic tumours.CONCLUSION: If an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB-linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.

AB - BACKGROUND: Germline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.METHODS: This was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.RESULTS: In a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty-one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty-seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non-paraganglionic tumours.CONCLUSION: If an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB-linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.

U2 - 10.1002/bjs5.39

DO - 10.1002/bjs5.39

M3 - Article

C2 - 29951630

SN - 2474-9842

VL - 2

SP - 62

EP - 69

JO - BJS open

JF - BJS open

IS - 2

ER -

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

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