Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective...
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| Format: | Article |
| Language: | English |
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Korean Society for Thoracic and Cardiovascular Surgery
2019-10-01
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| Series: | Korean Journal of Thoracic and Cardiovascular Surgery |
| Subjects: |
| _version_ | 1818512990796775424 |
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| author | Kushtrim Disha Solveig Schulz Martin Breuer Tamer Owais Evaldas Girdauskas Thomas Kuntze |
| author_facet | Kushtrim Disha Solveig Schulz Martin Breuer Tamer Owais Evaldas Girdauskas Thomas Kuntze |
| author_sort | Kushtrim Disha |
| collection | DOAJ |
| description | Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, pre-operative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I) mutation in 6 probands of the family, albeit in 1 of them posthumously. This missense mutation has been previously described in relation to aortic dissection, but a causative relationship to malig-nancy has so far neither been proposed nor proven. |
| first_indexed | 2024-12-10T23:54:44Z |
| format | Article |
| id | doaj.art-1bc05a09b3154021a59da54085245a10 |
| institution | Directory Open Access Journal |
| issn | 2233-601X 2093-6516 |
| language | English |
| last_indexed | 2024-12-10T23:54:44Z |
| publishDate | 2019-10-01 |
| publisher | Korean Society for Thoracic and Cardiovascular Surgery |
| record_format | Article |
| series | Korean Journal of Thoracic and Cardiovascular Surgery |
| spelling | doaj.art-1bc05a09b3154021a59da54085245a102022-12-22T01:28:37ZengKorean Society for Thoracic and Cardiovascular SurgeryKorean Journal of Thoracic and Cardiovascular Surgery2233-601X2093-65162019-10-0152537637910.5090/kjtcs.2019.52.5.376Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic MalignancyKushtrim Disha0Solveig Schulz1Martin Breuer2Tamer Owais3Evaldas Girdauskas4Thomas Kuntze5Department of Cardiac Surgery, Central Hospital Bad Berka, Bad BerkaCenter of Human Genetics and Anthropology, Jena University Hospital, JenaDepartment of Cardiac Surgery, Central Hospital Bad Berka, Bad BerkaDepartment of Cardiac Surgery, Central Hospital Bad Berka, Bad BerkaDepartment of Cardiovascular Surgery, University Heart Center Hamburg, Hamburg, GermanyDepartment of Cardiac Surgery, Central Hospital Bad Berka, Bad BerkaConcomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, pre-operative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I) mutation in 6 probands of the family, albeit in 1 of them posthumously. This missense mutation has been previously described in relation to aortic dissection, but a causative relationship to malig-nancy has so far neither been proposed nor proven.Loeys-Dietz syndromeB-cell lymphomaAortic aneurysm/ thoracic |
| spellingShingle | Kushtrim Disha Solveig Schulz Martin Breuer Tamer Owais Evaldas Girdauskas Thomas Kuntze Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy Korean Journal of Thoracic and Cardiovascular Surgery Loeys-Dietz syndrome B-cell lymphoma Aortic aneurysm/ thoracic |
| title | Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy |
| title_full | Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy |
| title_fullStr | Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy |
| title_full_unstemmed | Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy |
| title_short | Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy |
| title_sort | novel association of a familial tgfbr1 mutation in loeys dietz syndrome with concomitant hematologic malignancy |
| topic | Loeys-Dietz syndrome B-cell lymphoma Aortic aneurysm/ thoracic |
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