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. Rene
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 - van Oordt, C. Willemien Menke-Van der Houven
AU - Hensen, Erik F.
AU - Corssmit, Eleonora P. M.
AU - Eekhoff, E. Marelise W.
PY - 2019/11
Y1 - 2019/11
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.
KW - HEAD
KW - GA-68-DOTATATE
KW - PHENOTYPE
KW - SOCIETY
KW - UTILITY
KW - PET/CT
U2 - 10.1210/jc.2019-00202
DO - 10.1210/jc.2019-00202
M3 - Article
SN - 0021-972X
VL - 104
SP - 5421
EP - 5426
JO - Journal of Clinical Endocrinology & Metabolism
JF - Journal of Clinical Endocrinology & Metabolism
IS - 11
ER -