Germline predisposition to genitourinary rhabdomyosarcoma

Kami Wolfe Schneider, Nicholas G Cost, Kris Ann P Schultz, Shayna Svihovec, Alexandra Suttman, Kami Wolfe Schneider, Nicholas G Cost, Kris Ann P Schultz, Shayna Svihovec, Alexandra 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.

Keywords: Genetics; cancer predisposition; genetic counseling; genitourinary; germline; rhabdomyosarcoma; syndrome.

Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/tau-20-76). The series “Pediatric Urologic Malignancies” was commissioned by the editorial office without any funding or sponsorship. NGC served as the unpaid Guest Editor of the series. Dr. Schultz reports grants from Pine Tree Apple Classic Fund, Children's Minnesota and Rein in Sarcoma, during the conduct of the study. The authors have no other conflicts of interest to declare.

2020 Translational Andrology and Urology. All rights reserved.

Figures

Figure 1
Figure 1
Indications for Genetic Counseling and/or Testing. RMS, rhabdomyosarcoma. *For example, a somatic pathogenic variant detected in a gene associated with germline predisposition. **See Table 1.

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