Sequential presentation of Wilms' tumor and orbital rhabdomyosarcoma in a child with mosaic variegated aneuploidy syndrome 3.
This report describes a 12-year-old girl with prior Wilms tumor who developed orbital embryonal rhabdomyosarcoma and had a likely pathogenic TRIP13 null variant suggesting mosaic variegated aneuploidy syndrome 3.
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This report describes a 12-year-old girl with prior Wilms tumor who developed orbital embryonal rhabdomyosarcoma and had a likely pathogenic TRIP13 null variant suggesting mosaic variegated aneuploidy syndrome 3.
Research significance
The case provides evidence that recognizing a possible TRIP13-associated cancer-predisposition syndrome can prompt genetic counseling and systemic surveillance; it is an inference, not demonstrated here, that earlier syndrome identification could improve tumor surveillance or treatment planning.
Source abstract
A 12-year-old girl presented with pain, swelling, and decreased vision in the left eye of 1-month duration. She had a significant history of left Wilms' tumor treated with left radical nephrectomy and chemotherapy at three years of age. Ocular examination revealed massive left proptosis, inferior globe dystopia, visual acuity of 20/160, ptosis, conjunctival chemosis, and corneal exposure changes. Orbital magnetic resonance imaging revealed a well-circumscribed T1-hypo and T2-hyperintense tumor in the superotemporal orbit with marked contrast enhancement. An excisional biopsy was performed, and histopathology was consistent with embryonal rhabdomyosarcoma. Genetic counseling was undertaken in view of multiple malignancies. Whole-exome sequencing identified a likely pathogenic null variant in the TRIP13 (c.998_999delCT, p.Ser333Leufs *30) gene, suggesting a diagnosis of mosaic variegated aneuploidy syndrome 3. Systemic surveillance showed no metastatic lesions. Adjuvant chemoradiotherapy was advised. Mosaic variegated aneuploidy syndrome can be associated with multiple malignancies, including Wilms' tumor and orbital rhabdomyosarcoma.