A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome
BackgroundHereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical pr...
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/full |
| _version_ | 1827370394065043456 |
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| author | Yian Gu Yuanyuan Ye Hua Shu Lina Chang Yinghui Xie Fengao Li Tiehong Zhu Ming Liu Qing He |
| author_facet | Yian Gu Yuanyuan Ye Hua Shu Lina Chang Yinghui Xie Fengao Li Tiehong Zhu Ming Liu Qing He |
| author_sort | Yian Gu |
| collection | DOAJ |
| description | BackgroundHereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms.Case summaryThe proband, diagnosed with PHPT, underwent parathyroidectomy at the age of 41 with pathological examination of parathyroid carcinoma (PC). Hereditary PHPT was initially suspected due to the early-onset PHPT and family history. Genetic testing identified a heterozygous CDC73 mutation, NM_024529.4: c. 687_688delAG (p. Arg229Serfs*37). Even in the absence of jaw tumors, the diagnosis of HPT-JT was confirmed based on the discovery of renal cysts. A secondary thyroidectomy was performed to reduce the risk of recurrence.ConclusionGenetic testing is strongly recommended in cases of early-onset PHPT, family history, jaw tumors, renal and uterine involvement, atypical parathyroid tumors, and PC. This testing provides valuable information for personalized management, and counseling is available for affected families. |
| first_indexed | 2024-03-08T10:14:38Z |
| format | Article |
| id | doaj.art-6b84efcc26fd47e88c8d66ed203a9ab1 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-03-08T10:14:38Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-6b84efcc26fd47e88c8d66ed203a9ab12024-01-29T04:32:07ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-01-011510.3389/fendo.2024.13301851330185A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndromeYian Gu0Yuanyuan Ye1Hua Shu2Lina Chang3Yinghui Xie4Fengao Li5Tiehong Zhu6Ming Liu7Qing He8Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Baodi District People’s Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaDepartment of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, ChinaBackgroundHereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms.Case summaryThe proband, diagnosed with PHPT, underwent parathyroidectomy at the age of 41 with pathological examination of parathyroid carcinoma (PC). Hereditary PHPT was initially suspected due to the early-onset PHPT and family history. Genetic testing identified a heterozygous CDC73 mutation, NM_024529.4: c. 687_688delAG (p. Arg229Serfs*37). Even in the absence of jaw tumors, the diagnosis of HPT-JT was confirmed based on the discovery of renal cysts. A secondary thyroidectomy was performed to reduce the risk of recurrence.ConclusionGenetic testing is strongly recommended in cases of early-onset PHPT, family history, jaw tumors, renal and uterine involvement, atypical parathyroid tumors, and PC. This testing provides valuable information for personalized management, and counseling is available for affected families.https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/fullhereditary primary hyperparathyroidismhyperparathyroidism-jaw tumor syndromeparathyroid carcinomaCDC73 geneparafibromin |
| spellingShingle | Yian Gu Yuanyuan Ye Hua Shu Lina Chang Yinghui Xie Fengao Li Tiehong Zhu Ming Liu Qing He A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome Frontiers in Endocrinology hereditary primary hyperparathyroidism hyperparathyroidism-jaw tumor syndrome parathyroid carcinoma CDC73 gene parafibromin |
| title | A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome |
| title_full | A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome |
| title_fullStr | A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome |
| title_full_unstemmed | A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome |
| title_short | A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome |
| title_sort | family case report of parathyroid carcinoma associated with cdc73 mutation in hyperparathyroidism jaw tumor syndrome |
| topic | hereditary primary hyperparathyroidism hyperparathyroidism-jaw tumor syndrome parathyroid carcinoma CDC73 gene parafibromin |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/full |
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