دورية أكاديمية
Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus
| العنوان: | Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus |
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| المؤلفون: | Marek Godava, Hana Filipova, Lubomir Dubrava, Radek Vrtel, Kamila Michalkova, Maria Janikova, Lenka Bakaj-Zbrozkova, Jiri Navratil |
| المصدر: | Biomedical Papers, Vol 161, Iss 3, Pp 326-329 (2017) |
| بيانات النشر: | Palacký University Olomouc, Faculty of Medicine and Dentistry, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | cardiac rhabdomyoma, tsc2, reduced expression, mild tuberous sclerosis, Medicine |
| الوصف: | Background: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. Case report: This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth. DNA analysis found novel c.4861A>T TSC2 variant and large deletion in TSC2 in tumour tissue from male foetus. The novel TSC2 variant was also present in the girl and her healthy father, in silico analysis suggested its functional effect on TSC2. Brain MRI of the father detected mild TSC specific abnormality. Conclusion: We suggest the novel TSC2 mutation is a cause of mild TSC in this family and has reduced expression. The clinical and molecular findings in this family also emphasize that TSC diagnosis should be also evaluated in case of single giant foetal cardiac rhabdomyoma. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1213-8118 1804-7521 |
| Relation: | https://biomed.papers.upol.cz/artkey/bio-201703-0013_Single_giant_mediastinal_rhabdomyoma_as_a_sole_manifestation_of_TSC_in_foetus.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521 |
| DOI: | 10.5507/bp.2017.023 |
| URL الوصول: | https://doaj.org/article/733249aef9eb459fb98bd9f44eb2ce36 |
| رقم الأكسشن: | edsdoj.733249aef9eb459fb98bd9f44eb2ce36 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 12138118 18047521 |
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| DOI: | 10.5507/bp.2017.023 |