Germline predisposition to genitourinary rhabdomyosarcoma

Translational Andrology and Urology
Kami Wolfe SchneiderAlexandra Suttman

Abstract

Multiple genetic conditions predispose to the development of rhabdomyosarcoma. Much of the literature on rhabdomyosarcoma in genetic syndromes does not sub-divide the location or the pathology of the sarcomas. Therefore, there are limited data on genitourinary specific associations with certain genetic syndromes. We summarize, here, the primary differential considerations for rhabdomyosarcoma of the genitourinary system. Primary considerations include DICER1 pathogenic variation, Li-Fraumeni syndrome, constitutional mismatch repair deficiency, mosaic variegated aneuploidy, neurofibromatosis type 1, Noonan syndrome, other RASopathies, Costello syndrome, and Beckwith-Wiedemann syndrome. Some conditions may present with specific pathological, clinical and/or family history features, but for others, the genitourinary tumor may be the only presenting sign at the time of diagnosis. Genetic evaluation with counseling and/or testing may help identify an underlying tumor predisposition. This manuscript serves as an introduction to germline considerations for children with genitourinary rhabdomyosarcoma.

Associated Clinical Trials

Citations

Jun 3, 2021·Journal of Clinical Medicine·Bailey A Martin-GiacalonePhilip J Lupo

❮ Previous
Next ❯

Related Concepts

Related Feeds

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

Related Papers

Journal of Pediatric Surgery
P R ExelbyB Jereb
Proceedings of the Royal Society of Medicine
D I Williams
The Journal of Urology
E Shapiro, D Strother
International Journal of Radiation Oncology, Biology, Physics
R R WeichselbaumR Filler
© 2021 Meta ULC. All rights reserved