Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus
Language English Country Czech Republic Media print-electronic
Document type Case Reports, Journal Article
PubMed
28659645
DOI
10.5507/bp.2017.023
Knihovny.cz E-resources
- Keywords
- TSC2, cardiac rhabdomyoma, mild tuberous sclerosis., reduced expression,
- MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Testing MeSH
- Tuberous Sclerosis Complex 1 Protein MeSH
- Abortion, Induced MeSH
- Humans MeSH
- DNA Mutational Analysis MeSH
- Tumor Suppressor Proteins genetics MeSH
- Mediastinal Neoplasms complications diagnosis genetics MeSH
- Fetal Diseases diagnosis genetics MeSH
- Infant, Newborn MeSH
- Autopsy MeSH
- Predictive Value of Tests MeSH
- Prenatal Diagnosis MeSH
- Rhabdomyoma complications diagnosis genetics MeSH
- Pregnancy MeSH
- Tuberous Sclerosis Complex 2 Protein MeSH
- Tuberous Sclerosis complications diagnosis genetics MeSH
- Rare Diseases diagnosis genetics MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Tuberous Sclerosis Complex 1 Protein MeSH
- Tumor Suppressor Proteins MeSH
- TSC2 protein, human MeSH Browser
- Tuberous Sclerosis Complex 2 Protein MeSH
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.
Centre of Fetal Medicine and Medical Genetics FETMED Olomouc Czech Republic
Centre of Prenatal Diagnosis U S G POL s r o Prostejov Czech Republic
Department of Medical Genetics University Hospital Olomouc Czech Republic
Department of Radiology University Hospital Olomouc Czech Republic
Laboratory of Medical Genetics SPADIA LAB a s Novy Jicin Czech Republic
Outpatient Cardiology Department Pediatric Clinic The University Hospital Brno Czech Republic
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