A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report
Abstract Background Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentations, affecting 30% of HPT-JT patients. However, O...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-09-01
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| Series: | Diagnostic Pathology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13000-022-01248-x |
| _version_ | 1811208647573766144 |
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| author | Dun Yang Jiaoyun Zheng Fei Tang Qiongzhi He Hui Huang Peng Zhou |
| author_facet | Dun Yang Jiaoyun Zheng Fei Tang Qiongzhi He Hui Huang Peng Zhou |
| author_sort | Dun Yang |
| collection | DOAJ |
| description | Abstract Background Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentations, affecting 30% of HPT-JT patients. However, OF is easily confused with other fibro-osseous lesions (FOLs) of the jaw. The correct diagnosis of HPT-JT is a real challenge and must be confirmed by genetic testing. Case presentation A female proband and her father suffered from multiple and recurrent FOLs in the jaw. Considering well demarcated margin and heterogeneous calcified substance lying in a variable density of fibrous stroma, we reached the diagnosis of jaw OF through radiologic and microscopic analyses. Additionally, the proband presented with chronic anemia resulting from menorrhagia, as well as renal mixed epithelial and stromal tumor (MEST). Two patients both presented with no evidence of Hyperparathyroidism (HPT). A germline start codon mutation (c.1A > G) of CDC73 was identified in them. Copy number loss at the CDC73 gene locus was verified in the jaw tumor sample of the proband. Conclusion Regardless of whether HPT manifestations are present, patients with heritable jaw OF may be at risk for HPT-JT. Genetic testing should be adopted to confirm the diagnosis. Early recognition of HPT-JT helps to better develop tailored treatment plans and surveillance programs. |
| first_indexed | 2024-04-12T04:25:00Z |
| format | Article |
| id | doaj.art-d90e58f2e73948fcabf2e289f55f8c8f |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-04-12T04:25:00Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-d90e58f2e73948fcabf2e289f55f8c8f2022-12-22T03:48:07ZengBMCDiagnostic Pathology1746-15962022-09-011711810.1186/s13000-022-01248-xA two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case reportDun Yang0Jiaoyun Zheng1Fei Tang2Qiongzhi He3Hui Huang4Peng Zhou5Department of Pathology, Taoyuan People’s HospitalDepartment of Pathology, The Second Xiangya Hospital, Central South UniversityDepartment of Radiology, The Second Xiangya Hospital, Central South UniversityGeneplus-BeijingDepartment of Medical Genetics, The Second Xiangya Hospital, Central South UniversityDepartment of Pathology, The Second Xiangya Hospital, Central South UniversityAbstract Background Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentations, affecting 30% of HPT-JT patients. However, OF is easily confused with other fibro-osseous lesions (FOLs) of the jaw. The correct diagnosis of HPT-JT is a real challenge and must be confirmed by genetic testing. Case presentation A female proband and her father suffered from multiple and recurrent FOLs in the jaw. Considering well demarcated margin and heterogeneous calcified substance lying in a variable density of fibrous stroma, we reached the diagnosis of jaw OF through radiologic and microscopic analyses. Additionally, the proband presented with chronic anemia resulting from menorrhagia, as well as renal mixed epithelial and stromal tumor (MEST). Two patients both presented with no evidence of Hyperparathyroidism (HPT). A germline start codon mutation (c.1A > G) of CDC73 was identified in them. Copy number loss at the CDC73 gene locus was verified in the jaw tumor sample of the proband. Conclusion Regardless of whether HPT manifestations are present, patients with heritable jaw OF may be at risk for HPT-JT. Genetic testing should be adopted to confirm the diagnosis. Early recognition of HPT-JT helps to better develop tailored treatment plans and surveillance programs.https://doi.org/10.1186/s13000-022-01248-xHPT-JTHeritable jaw OFGenetic testingCDC73MEST |
| spellingShingle | Dun Yang Jiaoyun Zheng Fei Tang Qiongzhi He Hui Huang Peng Zhou A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report Diagnostic Pathology HPT-JT Heritable jaw OF Genetic testing CDC73 MEST |
| title | A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report |
| title_full | A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report |
| title_fullStr | A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report |
| title_full_unstemmed | A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report |
| title_short | A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report |
| title_sort | two generation hyperparathyroidism jaw tumor hpt jt syndrome family clinical presentations pathological characteristics and genetic analysis a case report |
| topic | HPT-JT Heritable jaw OF Genetic testing CDC73 MEST |
| url | https://doi.org/10.1186/s13000-022-01248-x |
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