Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report
Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who...
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Elsevier
2025-03-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324013281 |
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| author | Aya Kawasaki, MD Hidefumi Tonoki, MD, PhD Osamu Sasaki, MD, PhD Yoko Matsushita, MD, PhD Michiko Watari, MD, PhD Nobuhiro Takahashi, MD Satoko Fujieda, MD |
| author_facet | Aya Kawasaki, MD Hidefumi Tonoki, MD, PhD Osamu Sasaki, MD, PhD Yoko Matsushita, MD, PhD Michiko Watari, MD, PhD Nobuhiro Takahashi, MD Satoko Fujieda, MD |
| author_sort | Aya Kawasaki, MD |
| collection | DOAJ |
| description | Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth. Multiple fetal cardiac tumors were detected on ultrasonography at 24 weeks, gestation with no other manifestation. Neither epilepsy nor mental retardation was seen after birth. Once the parents were provided careful genetic counseling, a genetic analysis for TS was performed when the patient was 2 years old that demonstrated a novel pathogenic missense variant: c.1072T>C, p.Trp358Arg in the TSC2 gene with 30% mosaicism. This pathogenic variant is located on exon 10 of the TSC2 gene, which encodes the hamartin binding domain, leading to impair inhibitory function of the hamartin-tuberin complex, which activates mammalian target of rapamycin(mTOR) activity. The cardiac tumors were diagnosed as rhabdomyomas, a major clinical feature of TS, since the penetrance of this gene variants are thought to be 100%. We speculate that this new missense variant in TSC2 gene with 30% mosaicism will be associated to the milder phenotype of TS since the regression of the rhabdomyomas is the only manifestation in this patient. We hope that this case report might help clinicians and genetic counselors manage individualized surveillance plans for patients with TS. |
| format | Article |
| id | doaj-art-545bbb40c03e4c27951bb8da88eca814 |
| institution | Kabale University |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-545bbb40c03e4c27951bb8da88eca8142025-01-18T05:03:56ZengElsevierRadiology Case Reports1930-04332025-03-0120315261531Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case reportAya Kawasaki, MD0Hidefumi Tonoki, MD, PhD1Osamu Sasaki, MD, PhD2Yoko Matsushita, MD, PhD3Michiko Watari, MD, PhD4Nobuhiro Takahashi, MD5Satoko Fujieda, MD6Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, JapanDepartment of Pediatrics, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, JapanDepartment of Pediatrics, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, JapanDepartment of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, JapanDepartment of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, Japan; Corresponding author.Department of Pediatrics, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, JapanDepartment of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, JapanFetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth. Multiple fetal cardiac tumors were detected on ultrasonography at 24 weeks, gestation with no other manifestation. Neither epilepsy nor mental retardation was seen after birth. Once the parents were provided careful genetic counseling, a genetic analysis for TS was performed when the patient was 2 years old that demonstrated a novel pathogenic missense variant: c.1072T>C, p.Trp358Arg in the TSC2 gene with 30% mosaicism. This pathogenic variant is located on exon 10 of the TSC2 gene, which encodes the hamartin binding domain, leading to impair inhibitory function of the hamartin-tuberin complex, which activates mammalian target of rapamycin(mTOR) activity. The cardiac tumors were diagnosed as rhabdomyomas, a major clinical feature of TS, since the penetrance of this gene variants are thought to be 100%. We speculate that this new missense variant in TSC2 gene with 30% mosaicism will be associated to the milder phenotype of TS since the regression of the rhabdomyomas is the only manifestation in this patient. We hope that this case report might help clinicians and genetic counselors manage individualized surveillance plans for patients with TS.http://www.sciencedirect.com/science/article/pii/S1930043324013281Fetal cardiac tumorRhabdomyomasTSC1 or TSC2 geneTuberous sclerosis (TS) |
| spellingShingle | Aya Kawasaki, MD Hidefumi Tonoki, MD, PhD Osamu Sasaki, MD, PhD Yoko Matsushita, MD, PhD Michiko Watari, MD, PhD Nobuhiro Takahashi, MD Satoko Fujieda, MD Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report Radiology Case Reports Fetal cardiac tumor Rhabdomyomas TSC1 or TSC2 gene Tuberous sclerosis (TS) |
| title | Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report |
| title_full | Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report |
| title_fullStr | Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report |
| title_full_unstemmed | Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report |
| title_short | Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report |
| title_sort | fetal and neonatal cardiac tumor diagnosed as tuberous sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in tsc2 gene a case report |
| topic | Fetal cardiac tumor Rhabdomyomas TSC1 or TSC2 gene Tuberous sclerosis (TS) |
| url | http://www.sciencedirect.com/science/article/pii/S1930043324013281 |
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