GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS.
Cerebral cavernous malformations (CCMs) are benign tumours that affect brain capillaries. Although many cases remain asymptomatic, their incidence is steadily increasing. CCMs can arise sporadically or be inherited as autosomal dominant character. Inherited forms result from mutations at three diffe...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Associazione Italiana Giovani Medici
2017-07-01
|
| Series: | Euromediterranean Biomedical Journal |
| Subjects: | |
| Online Access: | http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=302:germ-line-somatic-dna-comparison&Itemid=17 |
| _version_ | 1818345461316059136 |
|---|---|
| author | Ivan Anchesi |
| author_facet | Ivan Anchesi |
| author_sort | Ivan Anchesi |
| collection | DOAJ |
| description | Cerebral cavernous malformations (CCMs) are benign tumours that affect brain capillaries. Although many cases remain asymptomatic, their incidence is steadily increasing. CCMs can arise sporadically or be inherited as autosomal dominant character. Inherited forms result from mutations at three different loci CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Etiology of sporadic forms is still unclear. Among the various molecular mechanisms proposed, presence of somatic mutations was sometimes proven. Here we report results obtained by a molecular screening of the three CCMs genes, performed on both germ-line and somatic DNA, isolated from CCM endothelial cells, in eight patients affected by sporadic lesions, who undergone surgery. Comparison of germ-line and somatic sequencing data, for each patient, showed no differences. Our results confirm that presence of somatic mutations is not sufficient to explain CCMs onset in patients affected by sporadic forms and with no CCM genes germ-line mutations. Other possible pathogenic mechanisms are also discussed. |
| first_indexed | 2024-12-13T17:02:44Z |
| format | Article |
| id | doaj.art-ed743ae9562c4586a1b405ef7c9a792b |
| institution | Directory Open Access Journal |
| issn | 2279-7165 2279-7165 |
| language | English |
| last_indexed | 2024-12-13T17:02:44Z |
| publishDate | 2017-07-01 |
| publisher | Associazione Italiana Giovani Medici |
| record_format | Article |
| series | Euromediterranean Biomedical Journal |
| spelling | doaj.art-ed743ae9562c4586a1b405ef7c9a792b2022-12-21T23:37:45ZengAssociazione Italiana Giovani MediciEuromediterranean Biomedical Journal2279-71652279-71652017-07-011220959810.3269/1970-5492.2017.12.20GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS.Ivan Anchesi0University of MessinaCerebral cavernous malformations (CCMs) are benign tumours that affect brain capillaries. Although many cases remain asymptomatic, their incidence is steadily increasing. CCMs can arise sporadically or be inherited as autosomal dominant character. Inherited forms result from mutations at three different loci CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Etiology of sporadic forms is still unclear. Among the various molecular mechanisms proposed, presence of somatic mutations was sometimes proven. Here we report results obtained by a molecular screening of the three CCMs genes, performed on both germ-line and somatic DNA, isolated from CCM endothelial cells, in eight patients affected by sporadic lesions, who undergone surgery. Comparison of germ-line and somatic sequencing data, for each patient, showed no differences. Our results confirm that presence of somatic mutations is not sufficient to explain CCMs onset in patients affected by sporadic forms and with no CCM genes germ-line mutations. Other possible pathogenic mechanisms are also discussed.http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=302:germ-line-somatic-dna-comparison&Itemid=17Cerebral cavernous malformationssporadic patientgermlinesomatic |
| spellingShingle | Ivan Anchesi GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS. Euromediterranean Biomedical Journal Cerebral cavernous malformations sporadic patient germline somatic |
| title | GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS. |
| title_full | GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS. |
| title_fullStr | GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS. |
| title_full_unstemmed | GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS. |
| title_short | GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS. |
| title_sort | germ line somatic dna comparison in sporadic patients with cerebral cavernous malformations |
| topic | Cerebral cavernous malformations sporadic patient germline somatic |
| url | http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=302:germ-line-somatic-dna-comparison&Itemid=17 |
| work_keys_str_mv | AT ivananchesi germlinesomaticdnacomparisoninsporadicpatientswithcerebralcavernousmalformations |