Study Reveals Cancer-Predisposition Variants Associated with Poor Outcomes in Rhabdomyosarcoma Patients


A recent study conducted by researchers at Baylor College of Medicine sheds new light on the impact of germline cancer-predisposition variants (CPVs) on outcomes in rhabdomyosarcoma cases among children. The findings, published in JAMA Network Open, highlight the potential of CPVs in predicting high-risk cases and guiding clinical surveillance strategies for these patients.

Dr. Philip Lupo, the corresponding author of the study and a professor of pediatrics specializing in hematology and oncology, emphasized the stagnant survival rates for rhabdomyosarcoma in recent years due to the lack of precise risk stratification methods. By analyzing outcomes among 580 children with rhabdomyosarcoma, the researchers discovered a significant association between the presence of CPVs in rhabdomyosarcoma-related genes and adverse outcomes.

Notably, children with embryonal rhabdomyosarcoma who carried CPVs in genes like TP53 or HRAS exhibited particularly poor outcomes. The study also identified a previously unrecognized group of individuals with CPVs who had similarly unfavorable prognoses. Specifically, children with fusion-negative rhabdomyosarcoma and CPVs showed outcomes comparable to those with fusion-positive rhabdomyosarcoma, a known aggressive subtype.

The implications of this research are profound, as it suggests the importance of integrating germline testing for CPVs into the management of rhabdomyosarcoma cases. Early detection of these variants could enhance clinical surveillance strategies for patients and prompt cascade testing for family members, as noted by Dr. Lupo.

Dr. Bailey Martin-Giacalone, the first author of the study, expressed optimism about how these findings could shape clinical guidelines for rhabdomyosarcoma patients and their families. As a graduate student in Dr. Lupo’s lab at Baylor during the research and now a postdoctoral associate at Washington University in St. Louis, Dr. Martin-Giacalone anticipates that the study’s insights will stimulate discussions aimed at improving survival outcomes for children battling cancer.

In conclusion, the study underscores the potential of CPVs as valuable markers for risk assessment in rhabdomyosarcoma cases and emphasizes the need for proactive genetic testing to optimize patient care and prognosis in pediatric oncology.

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