Embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma generally present with a mass and other symptoms related to the mass. About one quarter of patients present with metastatic disease which may also cause symptoms.

Presenting Complaint

It is important to determine:

  • The symptoms
    • A mass is the most common complaint, which may or may not be painful.
    • Most cases arise in the head and neck followed by genitourinary sites
    • Head and neck sites lead to proptosis, airway or oesophageal obstruction. Advanced tumours infiltrate the base of skull and lead to cranial nerve neuropathy
    • Urological sites may lead to anuria, haematuria or bowel obstruction
    • Female genital tract tumours may protrude from the vagina and occasionally have a grape-like appearance (so-called 'botryoid rhabdomyosarcoma')
    • Paratesticular tumours present as a testicular mass which may be confused with more common testicular pathologies such as torsion or hernia
    • Peripheral tumours may have minimal other symptoms aside from a mass; pain may be present
    • Other symptoms are often related to obstruction of hollow viscera, such as the hepatobiliary system
  • Duration of symptoms
  • What biopsies have been taken and where they were taken from
    • Sarcoma surgeons should perform a biopsy when sarcoma is suspected as the biopsy tract may need to resected

Past History

A history of congenital abnormalities is present in up to 30% of cases. Rhabdomyosarcoma may be associated with cancer syndromes such as Li Fraumeni; a history of previous malignancies and/or radiotherapy should be determined.


Nil specific.


Nil specific.

Family History

A family history of malignant syndromes should be noted. The associated syndromes are:

  • Li-Fraumeni (heterozygous mutation/loss of TP53)
  • Neurofibromatosis Type 1
  • Costello syndrome (not the politician…) - due to de novo heterozygous mutation/loss of the HRAS gene on chromosome 11 in the majority of cases
  • Noonan syndrome (heterozygous mutation/loss of PTPN11 on chromosome 12, a signal transuction protein)
  • Beckwith-Wiedemann syndrome (sporadic or inherited mutation of genes localised to chromosome 11p15)

Social History

No special social history needs to be obtained, aside from the usual paediatric social history. This should focus on the supports for the child, and their ability to attend a course of radiotherapy and other treatments.


The site of the primary should be examined to determine the size of the tumour and extent into adjacent structures (skin/deep fascia). Regional nodes should be examined as regional metastases are more common in this type of sarcoma (particularly extremity and testicular primary sites).


Histological Diagnosis