Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus
Jazyk angličtina Země Česko Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
28659645
DOI
10.5507/bp.2017.023
Knihovny.cz E-zdroje
- Klíčová slova
- TSC2, cardiac rhabdomyoma, mild tuberous sclerosis., reduced expression,
- MeSH
- genetická predispozice k nemoci MeSH
- genetické testování MeSH
- hamartin MeSH
- indukovaný potrat MeSH
- lidé MeSH
- mutační analýza DNA MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory mediastina komplikace diagnóza genetika MeSH
- nemoci plodu diagnóza genetika MeSH
- novorozenec MeSH
- pitva MeSH
- prediktivní hodnota testů MeSH
- prenatální diagnóza MeSH
- rhabdomyom komplikace diagnóza genetika MeSH
- těhotenství MeSH
- tuberin MeSH
- tuberózní skleróza komplikace diagnóza genetika MeSH
- vzácné nemoci diagnóza genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- hamartin MeSH
- nádorové supresorové proteiny MeSH
- TSC2 protein, human MeSH Prohlížeč
- tuberin 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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