Publication

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

van der Tuin, K., Tops, C. M. J., Adank, M. A., Cobben, J-M., Hamdy, N. A. T., Jongmans, M. C., Menko, F. H., van Nesselrooij, B. P. M., Netea-Maier, R. T., Oosterwijk, J. C., Valk, G. D., Wolffenbuttel, B. H. R., Hes, F. J. & Morreau, H., 1-Dec-2017, In : Journal of Clinical Endocrinology and Metabolism. 102, 12, p. 4534-4540 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

van der Tuin, K., Tops, C. M. J., Adank, M. A., Cobben, J-M., Hamdy, N. A. T., Jongmans, M. C., Menko, F. H., van Nesselrooij, B. P. M., Netea-Maier, R. T., Oosterwijk, J. C., Valk, G. D., Wolffenbuttel, B. H. R., Hes, F. J., & Morreau, H. (2017). CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. https://doi.org/10.1210/jc.2017-01249

Author

van der Tuin, Karin ; Tops, Carli M. J. ; Adank, Muriel A. ; Cobben, Jan-Maarten ; Hamdy, Neveen A. T. ; Jongmans, Marjolijn C. ; Menko, Fred H. ; van Nesselrooij, Bernadette P. M. ; Netea-Maier, Romana T. ; Oosterwijk, Jan C. ; Valk, Gerlof D. ; Wolffenbuttel, Bruce H. R. ; Hes, Frederik J. ; Morreau, Hans. / CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. In: Journal of Clinical Endocrinology and Metabolism. 2017 ; Vol. 102, No. 12. pp. 4534-4540.

Harvard

van der Tuin, K, Tops, CMJ, Adank, MA, Cobben, J-M, Hamdy, NAT, Jongmans, MC, Menko, FH, van Nesselrooij, BPM, Netea-Maier, RT, Oosterwijk, JC, Valk, GD, Wolffenbuttel, BHR, Hes, FJ & Morreau, H 2017, 'CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism', Journal of Clinical Endocrinology and Metabolism, vol. 102, no. 12, pp. 4534-4540. https://doi.org/10.1210/jc.2017-01249

Standard

CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. / van der Tuin, Karin; Tops, Carli M. J.; Adank, Muriel A.; Cobben, Jan-Maarten; Hamdy, Neveen A. T.; Jongmans, Marjolijn C.; Menko, Fred H.; van Nesselrooij, Bernadette P. M.; Netea-Maier, Romana T.; Oosterwijk, Jan C.; Valk, Gerlof D.; Wolffenbuttel, Bruce H. R.; Hes, Frederik J.; Morreau, Hans.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 102, No. 12, 01.12.2017, p. 4534-4540.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

van der Tuin K, Tops CMJ, Adank MA, Cobben J-M, Hamdy NAT, Jongmans MC et al. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. Journal of Clinical Endocrinology and Metabolism. 2017 Dec 1;102(12):4534-4540. https://doi.org/10.1210/jc.2017-01249


BibTeX

@article{419bf361273f41398500a66770c2caec,
title = "CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism",
abstract = "Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series.Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case detection in pHPT.Design: Nationwide retrospective Dutch cohort study.Setting: Tertiary referral center.Patients: We studied 89 patients with pHPT referred for germline CDC73 analysis and 43 subsequently tested relatives who proved to be mutation carriers.Investigation: Germline CDC73 mutation analysis.Mean Outcome: CDC73 mutation detection yield, referral rate, and CDC73-related disease penetrance.Results: Pathogenic germline CDC73 variants were identified in 11 of the 89 referred pHPT patients (12.4%), with (suspected) hyperparathyroidism-jaw tumor (HPT-JT) syndrome (n = 3), familial isolated pHPT (n = 5), apparently sporadic parathyroid carcinoma (n = 2), and apparently sporadic parathyroid adenoma (n = 1). The estimated penetrance of CDC73-related disorders was 65% at age 50 years (95% confidence interval, 48% to 82%) in 43 nonindex mutation carriers.Conclusions: Germline CDC73 analysis is recommended in individuals with (suspected) HPT-JT syndrome, familial isolated pHPT, atypical or malignant parathyroid histology, and young individuals with pHPT. These criteria would increase germline CDC73 mutation detection, enabling optimal clinical management of pHPT as well as genetic counseling and surveillance for family members at risk for developing CDC73-related disorders.",
keywords = "FAMILIAL ISOLATED HYPERPARATHYROIDISM, JAW TUMOR SYNDROME, PARATHYROID CARCINOMA, GENETIC ANALYSES, HRPT2 GENE, PARAFIBROMIN, MUTATIONS, GERMLINE, CANCER, MANAGEMENT",
author = "{van der Tuin}, Karin and Tops, {Carli M. J.} and Adank, {Muriel A.} and Jan-Maarten Cobben and Hamdy, {Neveen A. T.} and Jongmans, {Marjolijn C.} and Menko, {Fred H.} and {van Nesselrooij}, {Bernadette P. M.} and Netea-Maier, {Romana T.} and Oosterwijk, {Jan C.} and Valk, {Gerlof D.} and Wolffenbuttel, {Bruce H. R.} and Hes, {Frederik J.} and Hans Morreau",
year = "2017",
month = dec,
day = "1",
doi = "10.1210/jc.2017-01249",
language = "English",
volume = "102",
pages = "4534--4540",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "ENDOCRINE SOC",
number = "12",

}

RIS

TY - JOUR

T1 - CDC73-Related Disorders

T2 - Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

AU - van der Tuin, Karin

AU - Tops, Carli M. J.

AU - Adank, Muriel A.

AU - Cobben, Jan-Maarten

AU - Hamdy, Neveen A. T.

AU - Jongmans, Marjolijn C.

AU - Menko, Fred H.

AU - van Nesselrooij, Bernadette P. M.

AU - Netea-Maier, Romana T.

AU - Oosterwijk, Jan C.

AU - Valk, Gerlof D.

AU - Wolffenbuttel, Bruce H. R.

AU - Hes, Frederik J.

AU - Morreau, Hans

PY - 2017/12/1

Y1 - 2017/12/1

N2 - Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series.Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case detection in pHPT.Design: Nationwide retrospective Dutch cohort study.Setting: Tertiary referral center.Patients: We studied 89 patients with pHPT referred for germline CDC73 analysis and 43 subsequently tested relatives who proved to be mutation carriers.Investigation: Germline CDC73 mutation analysis.Mean Outcome: CDC73 mutation detection yield, referral rate, and CDC73-related disease penetrance.Results: Pathogenic germline CDC73 variants were identified in 11 of the 89 referred pHPT patients (12.4%), with (suspected) hyperparathyroidism-jaw tumor (HPT-JT) syndrome (n = 3), familial isolated pHPT (n = 5), apparently sporadic parathyroid carcinoma (n = 2), and apparently sporadic parathyroid adenoma (n = 1). The estimated penetrance of CDC73-related disorders was 65% at age 50 years (95% confidence interval, 48% to 82%) in 43 nonindex mutation carriers.Conclusions: Germline CDC73 analysis is recommended in individuals with (suspected) HPT-JT syndrome, familial isolated pHPT, atypical or malignant parathyroid histology, and young individuals with pHPT. These criteria would increase germline CDC73 mutation detection, enabling optimal clinical management of pHPT as well as genetic counseling and surveillance for family members at risk for developing CDC73-related disorders.

AB - Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series.Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case detection in pHPT.Design: Nationwide retrospective Dutch cohort study.Setting: Tertiary referral center.Patients: We studied 89 patients with pHPT referred for germline CDC73 analysis and 43 subsequently tested relatives who proved to be mutation carriers.Investigation: Germline CDC73 mutation analysis.Mean Outcome: CDC73 mutation detection yield, referral rate, and CDC73-related disease penetrance.Results: Pathogenic germline CDC73 variants were identified in 11 of the 89 referred pHPT patients (12.4%), with (suspected) hyperparathyroidism-jaw tumor (HPT-JT) syndrome (n = 3), familial isolated pHPT (n = 5), apparently sporadic parathyroid carcinoma (n = 2), and apparently sporadic parathyroid adenoma (n = 1). The estimated penetrance of CDC73-related disorders was 65% at age 50 years (95% confidence interval, 48% to 82%) in 43 nonindex mutation carriers.Conclusions: Germline CDC73 analysis is recommended in individuals with (suspected) HPT-JT syndrome, familial isolated pHPT, atypical or malignant parathyroid histology, and young individuals with pHPT. These criteria would increase germline CDC73 mutation detection, enabling optimal clinical management of pHPT as well as genetic counseling and surveillance for family members at risk for developing CDC73-related disorders.

KW - FAMILIAL ISOLATED HYPERPARATHYROIDISM

KW - JAW TUMOR SYNDROME

KW - PARATHYROID CARCINOMA

KW - GENETIC ANALYSES

KW - HRPT2 GENE

KW - PARAFIBROMIN

KW - MUTATIONS

KW - GERMLINE

KW - CANCER

KW - MANAGEMENT

U2 - 10.1210/jc.2017-01249

DO - 10.1210/jc.2017-01249

M3 - Article

VL - 102

SP - 4534

EP - 4540

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 12

ER -

ID: 51950630