Disclosures: Haruki Ishii, MD: No financial relationships or conflicts of interest

Case Diagnosis: Osteosarcoma

Case Description: This 19-year-old adolescent presented with progressive low back and left hip pain with radiculopathy and was diagnosed with chondroblastic osteosarcoma involving the entire left hemipelvis and the sacrum. Cancer whole exome sequencing also revealed germline p53 mutation, consistent with Li-Fraumeni syndrome (LFS). After completing chemotherapy and radiation, patient underwent left hemipelvectomy and sacrectomy for surgical resection of the tumor, and then L3-ilium lumbopelvic reconstruction, resulting in neurogenic bowel and bladder. To facilitate healing, patient was placed on non-weight bearing status. Given significant functional decline with emotional and social support needs, physiatry was consulted to navigate complex multidisciplinary therapy interventions and care coordination with other specialties for appropriate transitioning.

Setting: InpatientAssessment/

Results: The patient was discharged home with family given functional progress and continued outpatient treatment.

Discussion: LFS is a rare autosomal dominant cancer predisposition syndrome due to a germline TP53 mutation. The hemipelvectomy, most commonly performed for pelvic tumor resection, results in complications in 50-80% of cases including neurogenic bowel and bladder but also can present unique functional, emotional, and social challenges especially in adolescents due to increased peer influence. The International Classification of Functioning, Disability, and Health (ICF) is designed to provide a common language and framework for human health and function. ICF can therefore facilitate coordination of care from multidisciplinary services and can be implemented when treating medically complex patients such as our patient. This case also highlights the importance of ensuring a smooth transition from pediatric to adult-oriented health care services not only as a cancer survivor, but also as an amputee with great rehabilitation needs, which can largely depend on successful pre-transition plan.

Conclusion: This case highlights the importance of early physiatry involvement in an adolescent with a rare genetic mutation leading to amputation with complications for optimal functional restoration and transition of care coordination.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/hemipelvectomy-in-an-adolescent-with-li-faumeni-syndrome-a-case-report/