Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms
Parathyroid tumors are mostly sporadic but can also occur in familial forms, including different kinds of genetic syndromes with varying phenotypes and penetrance. Recently, somatic mutations of the tumor suppressor gene <i>PRUNE2</i> were found to be frequent in parathyroid cancer (PC)....
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| Format: | Article |
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MDPI AG
2023-02-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/15/5/1405 |
| _version_ | 1797615676699967488 |
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| author | Sara Storvall Eeva Ryhänen Auli Karhu Camilla Schalin-Jäntti |
| author_facet | Sara Storvall Eeva Ryhänen Auli Karhu Camilla Schalin-Jäntti |
| author_sort | Sara Storvall |
| collection | DOAJ |
| description | Parathyroid tumors are mostly sporadic but can also occur in familial forms, including different kinds of genetic syndromes with varying phenotypes and penetrance. Recently, somatic mutations of the tumor suppressor gene <i>PRUNE2</i> were found to be frequent in parathyroid cancer (PC). The germline mutation status of <i>PRUNE2</i> was investigated in a large cohort of patients with parathyroid tumors from the genetically homogenous Finnish population, 15 of which had PC, 16 atypical parathyroid tumors (APT), and 6 benign parathyroid adenomas (PA). Mutations in previously established hyperparathyroidism-related genes were screened with a targeted gene panel analysis. Nine <i>PRUNE2</i> germline mutations with a minor allele frequency (MAF) of <0.05 were found in our cohort. Five of these were predicted to be potentially damaging and were identified in two patients with PC, two with APT, and three with PA. The mutational status was not associated with the tumor group nor related to the clinical picture or severity of the disease. Still, the frequent finding of rare germline mutations of <i>PRUNE2</i> may point to the gene playing a role in the pathogenesis of parathyroid neoplasms. |
| first_indexed | 2024-03-11T07:30:04Z |
| format | Article |
| id | doaj.art-ba069a6e3bb54c09a58dd214bb7c3567 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-11T07:30:04Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-ba069a6e3bb54c09a58dd214bb7c35672023-11-17T07:23:41ZengMDPI AGCancers2072-66942023-02-01155140510.3390/cancers15051405Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid NeoplasmsSara Storvall0Eeva Ryhänen1Auli Karhu2Camilla Schalin-Jäntti3Department of Endocrinology, Abdominal Center, University of Helsinki, Helsinki University Hospital, Haartmaninkatu 4, 00290 Helsinki, FinlandDepartment of Endocrinology, Abdominal Center, University of Helsinki, Helsinki University Hospital, Haartmaninkatu 4, 00290 Helsinki, FinlandDepartment of Applied Tumor Genomics, Research Programs Unit, University of Helsinki, 00290 Helsinki, FinlandDepartment of Endocrinology, Abdominal Center, University of Helsinki, Helsinki University Hospital, Haartmaninkatu 4, 00290 Helsinki, FinlandParathyroid tumors are mostly sporadic but can also occur in familial forms, including different kinds of genetic syndromes with varying phenotypes and penetrance. Recently, somatic mutations of the tumor suppressor gene <i>PRUNE2</i> were found to be frequent in parathyroid cancer (PC). The germline mutation status of <i>PRUNE2</i> was investigated in a large cohort of patients with parathyroid tumors from the genetically homogenous Finnish population, 15 of which had PC, 16 atypical parathyroid tumors (APT), and 6 benign parathyroid adenomas (PA). Mutations in previously established hyperparathyroidism-related genes were screened with a targeted gene panel analysis. Nine <i>PRUNE2</i> germline mutations with a minor allele frequency (MAF) of <0.05 were found in our cohort. Five of these were predicted to be potentially damaging and were identified in two patients with PC, two with APT, and three with PA. The mutational status was not associated with the tumor group nor related to the clinical picture or severity of the disease. Still, the frequent finding of rare germline mutations of <i>PRUNE2</i> may point to the gene playing a role in the pathogenesis of parathyroid neoplasms.https://www.mdpi.com/2072-6694/15/5/1405primary hyperparathyroidismparathyroid carcinomawhole-exome sequencingPRUNE2germlinemutation |
| spellingShingle | Sara Storvall Eeva Ryhänen Auli Karhu Camilla Schalin-Jäntti Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms Cancers primary hyperparathyroidism parathyroid carcinoma whole-exome sequencing PRUNE2 germline mutation |
| title | Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms |
| title_full | Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms |
| title_fullStr | Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms |
| title_full_unstemmed | Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms |
| title_short | Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms |
| title_sort | novel i prune2 i germline mutations in aggressive and benign parathyroid neoplasms |
| topic | primary hyperparathyroidism parathyroid carcinoma whole-exome sequencing PRUNE2 germline mutation |
| url | https://www.mdpi.com/2072-6694/15/5/1405 |
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