Abstract

CONTEXT: Current guidelines do not consistently recommend imaging beyond the head and neck region in succinate dehydrogenase subunit D (SDHD) mutation carriers as long as catecholamine metabolite levels are within the reference range. PARTICIPANTS: We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production. Two of six patients with a biochemically silent sPGL/PHEO developed metastatic disease. Additionally, four patients were found to have metastases outside the head and neck region from head and neck PGL. The average interval between the initial diagnosis and discovery of the silent lesions was 10 (range, 0 to 32) years. CONCLUSIONS: The absence of excessive catecholamine production does not exclude the presence of manifestations of SDHD outside the head and neck region. These findings suggest that a more extensive imaging strategy in SDHD mutation carriers may be warranted for detection of biochemically silent lesions.
Original languageEnglish
Pages (from-to)5421-5426
JournalThe Journal of clinical endocrinology and metabolism
Volume104
Issue number11
Early online date13 Jun 2019
DOIs
Publication statusPublished - 2019

Cite this

@article{4d9b994f2ddb481d835dab97c0ad1003,
title = "Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers",
abstract = "CONTEXT: Current guidelines do not consistently recommend imaging beyond the head and neck region in succinate dehydrogenase subunit D (SDHD) mutation carriers as long as catecholamine metabolite levels are within the reference range. PARTICIPANTS: We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production. Two of six patients with a biochemically silent sPGL/PHEO developed metastatic disease. Additionally, four patients were found to have metastases outside the head and neck region from head and neck PGL. The average interval between the initial diagnosis and discovery of the silent lesions was 10 (range, 0 to 32) years. CONCLUSIONS: The absence of excessive catecholamine production does not exclude the presence of manifestations of SDHD outside the head and neck region. These findings suggest that a more extensive imaging strategy in SDHD mutation carriers may be warranted for detection of biochemically silent lesions.",
author = "Dreijerink, {Koen M. A.} and Rijken, {Johannes A.} and Compaijen, {C. J.} and Timmers, {Henri J. L. M.} and {van der Horst-Schrivers}, {Anouk N. A.} and {van Leeuwaarde}, {Rachel S.} and {van Dam}, {P. Sytze} and Leemans, {C. Ren{\'e}} and {van Dam}, {Eveline W. C. M.} and Chris Dickhoff and Dommering, {Charlotte J.} and {de Graaf}, Pim and Zwezerijnen, {G. J. C.} and {van der Valk}, Paul and {Menke-van der Houven van Oordt}, {C. Willemien} and Hensen, {Erik F.} and Corssmit, {Eleonora P. M.} and Eekhoff, {E. Marelise W.}",
note = "Copyright {\circledC} 2019 Endocrine Society.",
year = "2019",
doi = "10.1210/jc.2019-00202",
language = "English",
volume = "104",
pages = "5421--5426",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "11",

}

Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers. / Dreijerink, Koen M. A.; Rijken, Johannes A.; Compaijen, C. J.; Timmers, Henri J. L. M.; van der Horst-Schrivers, Anouk N. A.; van Leeuwaarde, Rachel S.; van Dam, P. Sytze; Leemans, C. René; van Dam, Eveline W. C. M.; Dickhoff, Chris; Dommering, Charlotte J.; de Graaf, Pim; Zwezerijnen, G. J. C.; van der Valk, Paul; Menke-van der Houven van Oordt, C. Willemien; Hensen, Erik F.; Corssmit, Eleonora P. M.; Eekhoff, E. Marelise W.

In: The Journal of clinical endocrinology and metabolism, Vol. 104, No. 11, 2019, p. 5421-5426.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers

AU - Dreijerink, Koen M. A.

AU - Rijken, Johannes A.

AU - Compaijen, C. J.

AU - Timmers, Henri J. L. M.

AU - van der Horst-Schrivers, Anouk N. A.

AU - van Leeuwaarde, Rachel S.

AU - van Dam, P. Sytze

AU - Leemans, C. René

AU - van Dam, Eveline W. C. M.

AU - Dickhoff, Chris

AU - Dommering, Charlotte J.

AU - de Graaf, Pim

AU - Zwezerijnen, G. J. C.

AU - van der Valk, Paul

AU - Menke-van der Houven van Oordt, C. Willemien

AU - Hensen, Erik F.

AU - Corssmit, Eleonora P. M.

AU - Eekhoff, E. Marelise W.

N1 - Copyright © 2019 Endocrine Society.

PY - 2019

Y1 - 2019

N2 - CONTEXT: Current guidelines do not consistently recommend imaging beyond the head and neck region in succinate dehydrogenase subunit D (SDHD) mutation carriers as long as catecholamine metabolite levels are within the reference range. PARTICIPANTS: We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production. Two of six patients with a biochemically silent sPGL/PHEO developed metastatic disease. Additionally, four patients were found to have metastases outside the head and neck region from head and neck PGL. The average interval between the initial diagnosis and discovery of the silent lesions was 10 (range, 0 to 32) years. CONCLUSIONS: The absence of excessive catecholamine production does not exclude the presence of manifestations of SDHD outside the head and neck region. These findings suggest that a more extensive imaging strategy in SDHD mutation carriers may be warranted for detection of biochemically silent lesions.

AB - CONTEXT: Current guidelines do not consistently recommend imaging beyond the head and neck region in succinate dehydrogenase subunit D (SDHD) mutation carriers as long as catecholamine metabolite levels are within the reference range. PARTICIPANTS: We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production. Two of six patients with a biochemically silent sPGL/PHEO developed metastatic disease. Additionally, four patients were found to have metastases outside the head and neck region from head and neck PGL. The average interval between the initial diagnosis and discovery of the silent lesions was 10 (range, 0 to 32) years. CONCLUSIONS: The absence of excessive catecholamine production does not exclude the presence of manifestations of SDHD outside the head and neck region. These findings suggest that a more extensive imaging strategy in SDHD mutation carriers may be warranted for detection of biochemically silent lesions.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/31194241

U2 - 10.1210/jc.2019-00202

DO - 10.1210/jc.2019-00202

M3 - Article

VL - 104

SP - 5421

EP - 5426

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 11

ER -