Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association

Erika Chandler; Lauren Rawson; Robert Debski; Kerry McGowan; Arpita Lakhotia

doi:10.1177/2329048X211041471

Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association

Child Neurol Open. 2021 Oct 4:8:2329048X211041471. doi: 10.1177/2329048X211041471. eCollection 2021 Jan-Dec.

Authors

Erika Chandler¹, Lauren Rawson², Robert Debski³, Kerry McGowan^{1

4}, Arpita Lakhotia^{1

4}

Affiliations

¹ University of Louisville, Louisville, USA.
² Princeton University, Princeton, USA.
³ Norton Healthcare, Louisville, USA.
⁴ Norton Children's Medical Group, Louisville, USA.

Abstract

Duchenne muscular dystrophy (DMD), caused by a mutation in the DMD gene, is known to be associated with co-morbidities including cardiomyopathy, respiratory failure, neuromuscular scoliosis and intellectual disability. Animal studies have explored the susceptibility of dystrophin-deficient mice with the development of myogenic tumors. While there is adequate literature describing both DMD and rhabdomyosarcoma (RMS) separately, there has yet to be a comprehensive literature review investigating the possibility that patients with DMD may be at a higher risk of developing RMS and other myogenic tumors. We present the case of a pediatric patient with DMD who developed alveolar RMS and review the literature for susceptibility to development of myogenic tumors in cases of DMD gene mutation.

Keywords: Duchenne muscular dystrophy; genetics; mutation; neurooncology; pediatric; risk factors.

Publication types

Case Reports