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Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis

Samuele RenziDivision of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Correspondence[email protected]

, MD,

Karin Langenberg-VervergaertDivision of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada;

, MD,

Fabio FuligniProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;

, PhD,

Anne Louise RyanDivision of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada;

, MBBS,

Scott DavidsonProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;

, PhD,

Nathaniel AndersonProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;

Reid HayesProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;

Sevan HopyanDivision of Orthopedic surgery, The Hospital for Sick Children, Toronto, ON, Canada;

, MD,

Justin T. GerstleDivision of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada;

, MD,

Mary ShagoDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; ;Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;

, PhD,

Rose ChamiDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;

, MD,

David MalkinDivision of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada;

, MD,

Adam ShlienProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;

, PhD,

Anita VillaniDivision of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada;

, MD &

Abha A. GuptaDivision of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; ;Princess Margaret Cancer Centre, Division of Medical Oncology, University of Toronto, Toronto, ON, Canada

, MD, MSc show all

Abstract

Rhabdomyosarcoma (RMS) represents the most common soft tissue sarcoma in the pediatric age group. While RMS has been traditionally classified on the basis of its histological appearance (with embryonal and alveolar being most common), it is now clear that the PAX-FOXO1 fusion product drives prognosis. We report here a case of pelvic embryonal RMS in a 3-month-old male who was subsequently found to have developed brain metastases during the course of chemotherapy. Cytogenetic analysis of the brain metastases at the time of autopsy as well as next-generation sequencing analysis revealed a reciprocal translocation involving the SH3 domain containing ring finger 3 gene (SH3RF3, on chromosome 2q13) and the Lipase C gene (LIPC, on chromosome 15q21.3). Due to the poor quality of the pretreatment and postresection samples, cytogenetics and NGS analysis looking for the presence of this balanced translocation in these specimens could not be performed. To the authors’ knowledge, this translocation has never been described in RMS. Further studies are needed to determine the biological and clinical implications of this novel translocation.

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The authors have no conflict of interest to declare.

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Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis

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Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis

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