The clinical and genetic characteristics of <i>CDC73</i>-associated parathyroid diseases_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

SU Zhe ,  HU Ya

Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, P. R. China;

Corresponding author：

HU Ya, Email: huyafrank@sohu.com

Keywords：

CDC73 gene; parafibromin protein; parathyroid disease; review

DOI：

10.7507/1007-9424.201903046

Video：

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Objective To summarize the clinical and genetic characteristics of parathyroid disease associated with CDC73 gene mutation.Methods The related literatures on CDC73 gene mutation and parathyroid diseases were collected and reviewed.Results CDC73 gene is a tumor suppressor gene which encodes parafibromin protein. CDC73 gene mutation may lead to the decrease or absence of expression of parafibromin protein. CDC73 gene mutation was directly associated with hyperthyroid-jaw tumor syndrome and 15% to 20% patients were associated with parathyroid carcinoma. Their first-degree relatives may also carry CDC73 gene mutation. Partial sporadic parathyroid carcinoma was associated with CDC73 mutation.Conclusions CDC73 gene mutation is associated with various kinds of parathyroid diseases. Detection of CDC73 gene sequences and immunohistochemical analysis of parafibromin protein may be applied in the diagnosis and improve the prognosis of parathyroid diseases.

Citation： SU Zhe, HU Ya. The clinical and genetic characteristics of CDC73-associated parathyroid diseases. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2019, 26(9): 1132-1135. doi: 10.7507/1007-9424.201903046 Copy

1.	Gill AJ, Lim G, Cheung VKY, et al. Parafibromin-deficient (HPT-JT type, CDC73 mutated) parathyroid tumors demonstrate distinctive morphologic features. Am J Surg Pathol, 2019, 43(1): 35-46.
2.	Cetani F, Pardi E, Marcocci C. Parathyroid carcinoma: a clinical and genetic perspective. Minerva Endocrinol, 2018, 43(2): 144-155.
3.	Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet, 2002, 32(4): 676-680.
4.	Brewer K, Costa-Guda J, Arnold A. Molecular genetic insights into sporadic primary hyperparathyroidism. Endocr Relat Cancer, 2019, 26(2): R53-R72.
5.	Cardoso L, Stevenson M, Thakker RV. Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. Hum Mutat, 2017, 38(12): 1621-1648.
6.	Mahajan G, Sacerdote A. Previously unreported deletion of CDC73 involving exons 1-13 was detected in a patient with recurrent parathyroid carcinoma. BMJ Case Rep, 2018, 11(1): e225784.
7.	Newey PJ, Bowl MR, Cranston T, et al. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat, 2010, 31(3): 295-307.
8.	Hatabu N, Katori N, Sato T, et al. A familial case of a whole germline CDC73 deletion discordant for primary hyperparathyroidism. Horm Res Paediatr, 2019, [Epub ahead of print].
9.	Bachmeier C, Patel C, Kanowski P, et al. Should all patients with hyperparathyroidism be screened for a CDC73 mutation? Endocrinol Diabetes Metab Case Rep, 2018, 2018: EDM170164.
10.	Rubinstein JC, Majumdar SK, Laskin W, et al. Hyper- parathyroidism-jaw tumor syndrome associated with large-scale 1q31 deletion. J Endocr Soc, 2017, 1(7): 926-930.
11.	Guarnieri V, Seaberg RM, Kelly C, et al. Large intragenic deletion of CDC73(exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. BMC Med Genet, 2017, 18(1): 83.
12.	Erickson LA, Mete O. Immunohistochemistry in diagnostic parathyroid pathology. Endocr Pathol, 2018, 29(2): 113-129.
13.	Lin L, Zhang JH, Panicker LM, et al. The parafibromin tumor suppressor protein inhibits cell proliferation by repression of thec-myc proto-oncogene. Proc Natl Acad Sci U S A, 2008, 105(45): 17420-17425.
14.	Wei J, Lian H, Zhong B, et al. Parafibromin is a component of IFN-γ-triggered signaling pathways that facilitates JAK1/2-mediated tyrosine phosphorylation of STAT1. J Immunol, 2015, 195(6): 2870-2878.
15.	Jo JH, Chung TM, Youn H, et al. Cytoplasmic para- fibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis. Nat Commun, 2014, 5: 5433.
16.	Rather MI, Swamy S, Gopinath KS, et al. Transcriptional repression of tumor suppressor CDC73, encoding an RNA polymerase Ⅱ interactor, by Wilms tumor 1 protein (WT1) promotes cell proliferation: implication for cancer therapeutics. J Biol Chem, 2014, 289(2): 968-976.
17.	Karaarslan S, Genç B, Nart A, et al. The Relation of parafibromin expression with clinicopathological factors in invasive breast carcinomas. Turk Patoloji Derg, 2016, 32(1): 8-14.
18.	Shen DF, Liu X, Yang XF, et al. The roles of parafibromin expression in ovarian epithelial carcinomas: a marker for differentiation and prognosis and a target for gene therapy. Tumour Biol, 2016, 37(3): 2909-2924.
19.	Walls GV, Stevenson M, Lines KE, et al. Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome. Oncogene, 2017, 36(28): 4025-4036.
20.	Mehta A, Patel D, Rosenberg A, et al. Hyperparathyroidism-jaw tumor syndrome: results of operative management. Surgery, 2014, 156(6): 1315-1325.
21.	Bradley KJ, Cavaco BM, Bowl MR, et al. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf), 2006, 64(3): 299-306.
22.	Bilezikian JP, Cusano NE, Khan AA, et al. Primary hyperparathyroidism. Nat Rev Dis Primers, 2016, 2: 16033.
23.	Segiet OA, Deska M, Michalski M, et al. Molecular profiling in primary hyperparathyroidism. Head Neck, 2015, 37(2): 299-307.
24.	Thakker RV. Genetics of parathyroid tumours. J Intern Med, 2016, 280(6): 574-583.
25.	Bricaire L, Odou MF, Cardot-Bauters C, et al. Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. J Clin Endocrinol Metab, 2013, 98(2): E403-E408.
26.	Marx SJ, Lourenço DM Jr. Familial hyperparathyroidism - disorders of growth and secretion in hormone-secretory tissue. Horm Metab Res, 2017, 49(11): 805-815.
27.	Hu Y, Liao Q, Cao S, et al. Diagnostic performance of parafibromin immunohistochemical staining for sporadic parathyroid carcinoma: a meta-analysis. Endocrine, 2016, 54(3): 612-619.
28.	Cetani F, Pardi E, Marcocci C. Parathyroid carcinoma. Front Horm Res, 2019, 51: 63-76.
29.	Gill AJ. Understanding the genetic basis of parathyroid carcinoma. Endocr Pathol, 2014, 25(1): 30-34.
30.	王鸥, 王春艳, 聂敏, 等. 中国人甲状旁腺癌患者HRPT2/CDC73 基因突变及其蛋白表达的研究: 中华医学会第七次全国骨质疏松和骨矿盐疾病学术会议, 中国山西太原, 2013.
31.	Costa-Guda J, Imanishi Y, Palanisamy N, et al. Allelic imbalance in sporadic parathyroid carcinoma and evidence for its de novo origins. Endocrine, 2013, 44(2): 489-495.
32.	Kruijff S, Sidhu SB, Sywak MS, et al. Negative parafibromin staining predicts malignant behavior in atypical parathyroid adenomas. Ann Surg Oncol, 2014, 21(2): 426-433.
33.	Cetani F, Banti C, Pardi E, et al. CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer. Endocr Connect, 2013, 2(4): 186-195.
34.	Russo M, Borzì G, Ilenia M, et al. Challenges in the treatment of parathyroid carcinoma: a case report. Hormones (Athens), 2019, [Epub ahead of print].
35.	Duan K, Mete Ö. Parathyroid carcinoma: diagnosis and clinical implications. Turk Patoloji Derg, 2015, 31 Suppl 1: 80-97.
36.	Goldman L, Smyth FS. Hyperparathyroidism in siblings. Ann Surg, 1936, 104(6): 971-981.
37.	Marx SJ. New concepts about familial isolated hyper- parathyroidism. J Clin Endocrinol Metab, 2019, [Epub ahead of print].
38.	Wei Z, Sun B, Wang ZP, et al. Whole-exome sequencing identifies novel recurrent somatic mutations in sporadic parathyroid adenomas. Endocrinology, 2018, 159(8): 3061-3068.
39.	Krebs LJ, Shattuck TM, Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab, 2005, 90(9): 5015-5017.
40.	Gill AJ, Clarkson A, Gimm O, et al. Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. Am J Surg Pathol, 2006, 30(9): 1140-1149.

1. Gill AJ, Lim G, Cheung VKY, et al. Parafibromin-deficient (HPT-JT type, CDC73 mutated) parathyroid tumors demonstrate distinctive morphologic features. Am J Surg Pathol, 2019, 43(1): 35-46.
2. Cetani F, Pardi E, Marcocci C. Parathyroid carcinoma: a clinical and genetic perspective. Minerva Endocrinol, 2018, 43(2): 144-155.
3. Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet, 2002, 32(4): 676-680.
4. Brewer K, Costa-Guda J, Arnold A. Molecular genetic insights into sporadic primary hyperparathyroidism. Endocr Relat Cancer, 2019, 26(2): R53-R72.
5. Cardoso L, Stevenson M, Thakker RV. Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. Hum Mutat, 2017, 38(12): 1621-1648.
6. Mahajan G, Sacerdote A. Previously unreported deletion of CDC73 involving exons 1-13 was detected in a patient with recurrent parathyroid carcinoma. BMJ Case Rep, 2018, 11(1): e225784.
7. Newey PJ, Bowl MR, Cranston T, et al. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat, 2010, 31(3): 295-307.
8. Hatabu N, Katori N, Sato T, et al. A familial case of a whole germline CDC73 deletion discordant for primary hyperparathyroidism. Horm Res Paediatr, 2019, [Epub ahead of print].
9. Bachmeier C, Patel C, Kanowski P, et al. Should all patients with hyperparathyroidism be screened for a CDC73 mutation? Endocrinol Diabetes Metab Case Rep, 2018, 2018: EDM170164.
10. Rubinstein JC, Majumdar SK, Laskin W, et al. Hyper- parathyroidism-jaw tumor syndrome associated with large-scale 1q31 deletion. J Endocr Soc, 2017, 1(7): 926-930.
11. Guarnieri V, Seaberg RM, Kelly C, et al. Large intragenic deletion of CDC73(exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. BMC Med Genet, 2017, 18(1): 83.
12. Erickson LA, Mete O. Immunohistochemistry in diagnostic parathyroid pathology. Endocr Pathol, 2018, 29(2): 113-129.
13. Lin L, Zhang JH, Panicker LM, et al. The parafibromin tumor suppressor protein inhibits cell proliferation by repression of thec-myc proto-oncogene. Proc Natl Acad Sci U S A, 2008, 105(45): 17420-17425.
14. Wei J, Lian H, Zhong B, et al. Parafibromin is a component of IFN-γ-triggered signaling pathways that facilitates JAK1/2-mediated tyrosine phosphorylation of STAT1. J Immunol, 2015, 195(6): 2870-2878.
15. Jo JH, Chung TM, Youn H, et al. Cytoplasmic para- fibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis. Nat Commun, 2014, 5: 5433.
16. Rather MI, Swamy S, Gopinath KS, et al. Transcriptional repression of tumor suppressor CDC73, encoding an RNA polymerase Ⅱ interactor, by Wilms tumor 1 protein (WT1) promotes cell proliferation: implication for cancer therapeutics. J Biol Chem, 2014, 289(2): 968-976.
17. Karaarslan S, Genç B, Nart A, et al. The Relation of parafibromin expression with clinicopathological factors in invasive breast carcinomas. Turk Patoloji Derg, 2016, 32(1): 8-14.
18. Shen DF, Liu X, Yang XF, et al. The roles of parafibromin expression in ovarian epithelial carcinomas: a marker for differentiation and prognosis and a target for gene therapy. Tumour Biol, 2016, 37(3): 2909-2924.
19. Walls GV, Stevenson M, Lines KE, et al. Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome. Oncogene, 2017, 36(28): 4025-4036.
20. Mehta A, Patel D, Rosenberg A, et al. Hyperparathyroidism-jaw tumor syndrome: results of operative management. Surgery, 2014, 156(6): 1315-1325.
21. Bradley KJ, Cavaco BM, Bowl MR, et al. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf), 2006, 64(3): 299-306.
22. Bilezikian JP, Cusano NE, Khan AA, et al. Primary hyperparathyroidism. Nat Rev Dis Primers, 2016, 2: 16033.
23. Segiet OA, Deska M, Michalski M, et al. Molecular profiling in primary hyperparathyroidism. Head Neck, 2015, 37(2): 299-307.
24. Thakker RV. Genetics of parathyroid tumours. J Intern Med, 2016, 280(6): 574-583.
25. Bricaire L, Odou MF, Cardot-Bauters C, et al. Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. J Clin Endocrinol Metab, 2013, 98(2): E403-E408.
26. Marx SJ, Lourenço DM Jr. Familial hyperparathyroidism - disorders of growth and secretion in hormone-secretory tissue. Horm Metab Res, 2017, 49(11): 805-815.
27. Hu Y, Liao Q, Cao S, et al. Diagnostic performance of parafibromin immunohistochemical staining for sporadic parathyroid carcinoma: a meta-analysis. Endocrine, 2016, 54(3): 612-619.
28. Cetani F, Pardi E, Marcocci C. Parathyroid carcinoma. Front Horm Res, 2019, 51: 63-76.
29. Gill AJ. Understanding the genetic basis of parathyroid carcinoma. Endocr Pathol, 2014, 25(1): 30-34.
30. 王鸥, 王春艳, 聂敏, 等. 中国人甲状旁腺癌患者HRPT2/CDC73 基因突变及其蛋白表达的研究: 中华医学会第七次全国骨质疏松和骨矿盐疾病学术会议, 中国山西太原, 2013.
31. Costa-Guda J, Imanishi Y, Palanisamy N, et al. Allelic imbalance in sporadic parathyroid carcinoma and evidence for its de novo origins. Endocrine, 2013, 44(2): 489-495.
32. Kruijff S, Sidhu SB, Sywak MS, et al. Negative parafibromin staining predicts malignant behavior in atypical parathyroid adenomas. Ann Surg Oncol, 2014, 21(2): 426-433.
33. Cetani F, Banti C, Pardi E, et al. CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer. Endocr Connect, 2013, 2(4): 186-195.
34. Russo M, Borzì G, Ilenia M, et al. Challenges in the treatment of parathyroid carcinoma: a case report. Hormones (Athens), 2019, [Epub ahead of print].
35. Duan K, Mete Ö. Parathyroid carcinoma: diagnosis and clinical implications. Turk Patoloji Derg, 2015, 31 Suppl 1: 80-97.
36. Goldman L, Smyth FS. Hyperparathyroidism in siblings. Ann Surg, 1936, 104(6): 971-981.
37. Marx SJ. New concepts about familial isolated hyper- parathyroidism. J Clin Endocrinol Metab, 2019, [Epub ahead of print].
38. Wei Z, Sun B, Wang ZP, et al. Whole-exome sequencing identifies novel recurrent somatic mutations in sporadic parathyroid adenomas. Endocrinology, 2018, 159(8): 3061-3068.
39. Krebs LJ, Shattuck TM, Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab, 2005, 90(9): 5015-5017.
40. Gill AJ, Clarkson A, Gimm O, et al. Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. Am J Surg Pathol, 2006, 30(9): 1140-1149.

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The clinical and genetic characteristics of CDC73-associated parathyroid diseases

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