GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma
Several tumors, including uveal melanoma, show somatic mutations of <i>GNAQ/GNA11</i>. Circumscribed choroidal hemangioma is a benign tumor that becomes symptomatic in adulthood. In some patients, morphologic examination of biopsies is required for differential diagnosis between amelanot...
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| Format: | Article |
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MDPI AG
2019-07-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/11/7/1031 |
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| author | Claudia Helga Dorothee Le Guin Klaus Alfred Metz Stefan Horst Kreis Nikolaos Emmanouel Bechrakis Norbert Bornfeld Michael Zeschnigk Dietmar Rudolf Lohmann |
| author_facet | Claudia Helga Dorothee Le Guin Klaus Alfred Metz Stefan Horst Kreis Nikolaos Emmanouel Bechrakis Norbert Bornfeld Michael Zeschnigk Dietmar Rudolf Lohmann |
| author_sort | Claudia Helga Dorothee Le Guin |
| collection | DOAJ |
| description | Several tumors, including uveal melanoma, show somatic mutations of <i>GNAQ/GNA11</i>. Circumscribed choroidal hemangioma is a benign tumor that becomes symptomatic in adulthood. In some patients, morphologic examination of biopsies is required for differential diagnosis between amelanotic choroidal melanoma and circumscribed choroidal hemangioma. Here, we report the results of <i>GNAQ/GNA11</i> mutation analysis in samples from circumscribed choroidal hemangioma. Deep amplicon sequencing (Illumina MiSeq, San Diego, CA, USA) of positions R183 and Q209 of GNAQ and GNA11 in tissue samples from 33 patients with histologically diagnosed circumscribed choroidal hemangioma. All patients underwent biopsy or enucleation at our clinic between 2008 and 2018. To enable detection of variant alleles at low fractions, read depth exceeded 15,000-fold. DNA for genetic analysis was prepared from either snap-frozen (<i>n</i> = 22) or FFPE (<i>n</i> = 11) tissue samples. Samples from 28/33 patients (85%) showed a somatic missense mutation of <i>GNAQ</i> (c.626 A > G) predicted to result in p.Q209R. Variant allele fraction was variable (range 2.3% to 28%). Variants of <i>GNAQ</i> resulting in p.Q209 are characteristic for circumscribed choroidal hemangiomas. It appears that the <i>GNAQ</i> mutation spectrum in this tumor is narrow, possibly restricted to p.Q209R. Moreover, the spectrum is distinct from that of uveal melanoma, in which alterations resulting in p.Q209R are very rare. |
| first_indexed | 2024-03-12T09:11:56Z |
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| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-12T09:11:56Z |
| publishDate | 2019-07-01 |
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| series | Cancers |
| spelling | doaj.art-895c0b6456dd40a9bcffcaab6467711d2023-09-02T14:56:49ZengMDPI AGCancers2072-66942019-07-01117103110.3390/cancers11071031cancers11071031GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal HemangiomaClaudia Helga Dorothee Le Guin0Klaus Alfred Metz1Stefan Horst Kreis2Nikolaos Emmanouel Bechrakis3Norbert Bornfeld4Michael Zeschnigk5Dietmar Rudolf Lohmann6Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanyInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Pathology, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Pathology, University Hospital Essen, University Duisburg-Essen, Hufelandstr. 55, 45147 Essen, GermanySeveral tumors, including uveal melanoma, show somatic mutations of <i>GNAQ/GNA11</i>. Circumscribed choroidal hemangioma is a benign tumor that becomes symptomatic in adulthood. In some patients, morphologic examination of biopsies is required for differential diagnosis between amelanotic choroidal melanoma and circumscribed choroidal hemangioma. Here, we report the results of <i>GNAQ/GNA11</i> mutation analysis in samples from circumscribed choroidal hemangioma. Deep amplicon sequencing (Illumina MiSeq, San Diego, CA, USA) of positions R183 and Q209 of GNAQ and GNA11 in tissue samples from 33 patients with histologically diagnosed circumscribed choroidal hemangioma. All patients underwent biopsy or enucleation at our clinic between 2008 and 2018. To enable detection of variant alleles at low fractions, read depth exceeded 15,000-fold. DNA for genetic analysis was prepared from either snap-frozen (<i>n</i> = 22) or FFPE (<i>n</i> = 11) tissue samples. Samples from 28/33 patients (85%) showed a somatic missense mutation of <i>GNAQ</i> (c.626 A > G) predicted to result in p.Q209R. Variant allele fraction was variable (range 2.3% to 28%). Variants of <i>GNAQ</i> resulting in p.Q209 are characteristic for circumscribed choroidal hemangiomas. It appears that the <i>GNAQ</i> mutation spectrum in this tumor is narrow, possibly restricted to p.Q209R. Moreover, the spectrum is distinct from that of uveal melanoma, in which alterations resulting in p.Q209R are very rare.https://www.mdpi.com/2072-6694/11/7/1031circumscribed choroidal hemangiomaGNAQGNA11oncogenic mutationbiopsy |
| spellingShingle | Claudia Helga Dorothee Le Guin Klaus Alfred Metz Stefan Horst Kreis Nikolaos Emmanouel Bechrakis Norbert Bornfeld Michael Zeschnigk Dietmar Rudolf Lohmann GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma Cancers circumscribed choroidal hemangioma GNAQ GNA11 oncogenic mutation biopsy |
| title | GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma |
| title_full | GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma |
| title_fullStr | GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma |
| title_full_unstemmed | GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma |
| title_short | GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma |
| title_sort | gnaq q209r mutations are highly specific for circumscribed choroidal hemangioma |
| topic | circumscribed choroidal hemangioma GNAQ GNA11 oncogenic mutation biopsy |
| url | https://www.mdpi.com/2072-6694/11/7/1031 |
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