DICER1 mutation and pituitary prolactinoma
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screenin...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
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BioScientifica
2018
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| _version_ | 1826282520887427072 |
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| author | Cotton, E Ray, D |
| author_facet | Cotton, E Ray, D |
| author_sort | Cotton, E |
| collection | OXFORD |
| description | A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screening for thyroid disease, and investigations were initiated when she became amenorrhoic. MR scan revealed a 6 mm diameter pituitary microadenoma and raised prolactin. The prolactin was efficiently suppressed with low-dose cabergoline, and her menstrual cycles resumed. Dicer is an RNase enzyme, which is essential for processing small non-coding RNAs. These molecules play pleiotropic roles in regulating gene expression, by targeting mRNA sequences for degradation. DICER1 plays different roles depending on cell context, but is thought to be a functional tumour suppressor gene. Accordingly, germline mutation in one DICER1 allele is insufficient for oncogenesis, and a second hit on the other allele is required, as a result of postnatal somatic mutation. Loss of DICER1 is linked to multiple tumours, with prominent endocrine representation. Multinodular goitre is frequent, with increased risk of differentiated thyroid cancer. Rare, developmental pituitary tumours are reported, including pituitary blastoma, but not reports of functional pituitary adenomas. As DICER1 mutations are rare, case reports are the only means to identify new manifestations and to inform appropriate screening protocols. |
| first_indexed | 2024-03-07T00:45:06Z |
| format | Journal article |
| id | oxford-uuid:845cfec7-f367-499f-9ff7-9c5db0a0049c |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:45:06Z |
| publishDate | 2018 |
| publisher | BioScientifica |
| record_format | dspace |
| spelling | oxford-uuid:845cfec7-f367-499f-9ff7-9c5db0a0049c2022-03-26T21:50:37ZDICER1 mutation and pituitary prolactinomaJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:845cfec7-f367-499f-9ff7-9c5db0a0049cEnglishSymplectic Elements at OxfordBioScientifica2018Cotton, ERay, DA young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screening for thyroid disease, and investigations were initiated when she became amenorrhoic. MR scan revealed a 6 mm diameter pituitary microadenoma and raised prolactin. The prolactin was efficiently suppressed with low-dose cabergoline, and her menstrual cycles resumed. Dicer is an RNase enzyme, which is essential for processing small non-coding RNAs. These molecules play pleiotropic roles in regulating gene expression, by targeting mRNA sequences for degradation. DICER1 plays different roles depending on cell context, but is thought to be a functional tumour suppressor gene. Accordingly, germline mutation in one DICER1 allele is insufficient for oncogenesis, and a second hit on the other allele is required, as a result of postnatal somatic mutation. Loss of DICER1 is linked to multiple tumours, with prominent endocrine representation. Multinodular goitre is frequent, with increased risk of differentiated thyroid cancer. Rare, developmental pituitary tumours are reported, including pituitary blastoma, but not reports of functional pituitary adenomas. As DICER1 mutations are rare, case reports are the only means to identify new manifestations and to inform appropriate screening protocols. |
| spellingShingle | Cotton, E Ray, D DICER1 mutation and pituitary prolactinoma |
| title | DICER1 mutation and pituitary prolactinoma |
| title_full | DICER1 mutation and pituitary prolactinoma |
| title_fullStr | DICER1 mutation and pituitary prolactinoma |
| title_full_unstemmed | DICER1 mutation and pituitary prolactinoma |
| title_short | DICER1 mutation and pituitary prolactinoma |
| title_sort | dicer1 mutation and pituitary prolactinoma |
| work_keys_str_mv | AT cottone dicer1mutationandpituitaryprolactinoma AT rayd dicer1mutationandpituitaryprolactinoma |