To the Editor: We report a case of desmoplastic small round cell tumour (DSRCT) in the liver of a 23-year-old woman who presented with a recurrent non-pruritic rash.

The woman had a generalised macular rash, predominantly on the back and upper thighs. She reported recurrent similar skin rashes over the previous 4 months that had been treated with intermittent courses of oral antibiotics. She had felt mild fatigue during the 3 weeks prior to presentation. She was otherwise well, but had non-tender hepatomegaly (17 cm) on examination. There was no peripheral lymphadenopathy.

Levels of cholestatic liver enzymes were mildly raised (γ-glutamyl transpeptidase, 198 IU/L; alkaline phosphatase, 246 IU/L), but bilirubin and immunoglobulin levels were normal. The serum level of cancer antigen 125 (CA125) was 141 U/mL (reference range, < 35 U/mL). A computed tomography scan of the chest and abdomen showed multiple hepatic lesions (Box 1). A radiologically guided biopsy was taken, and histological examination revealed the typical morphology and immunophenotype of DSRCT (Box 2).

Our patient was counselled regarding diagnosis and likely poor prognosis. We did not attempt to preserve fertility, because we felt treatment should not be delayed and that life expectancy was limited. Chemotherapy with alternating VAC (vincristine, doxorubicin and cyclophosphamide) and IE (ifosfamide and etoposide) cycles was started promptly. Molecular testing for EWS1/WT1 (see below) was not performed, as there was insufficient biopsy tissue available. The patient’s rashes disappeared after one treatment cycle, and we postulate that the rashes were paraneoplastic and immune-mediated.

Restaging scans after four cycles of chemotherapy demonstrated a partial response. Stem cells were pre-emptively mobilised to store for possible subsequent autologous transplantation. The patient will be reassessed after eight cycles. If there is a significant response, the options of high-dose chemotherapy with autologous stem cell transplantation and/or debulking surgery will be explored.

To our knowledge, this is the first Australian report of DSRCT in a woman presenting with recurrent rash. DSRCT is a rare, aggressive tumour that predominantly affects males in early adulthood.1 There is a single Australian report of a 15-year-old boy who died of DSRCT 20 months after diagnosis.2

The histogenesis of DSRCT is unknown, but it exhibits divergent differentiation, expressing epithelial, muscular and neural proteins. It is characterised by the chromosomal translocation t(11;22)(pl3;ql2), formed by fusion of the Ewing sarcoma gene (EWS1) to the Wilms tumour suppressor gene (WT1).3 Patients typically present with non-specific symptoms, and the tumours are usually intra-abdominal. The level of CA125 is often raised, but this does not assist with diagnosis or monitoring.1 Diagnosis is by histology and immunohistochemistry, complemented by cytogenetic identification of an EWS1/WT1 translocation.

Patients with DSRCT have a poor prognosis, with a median survival of 15 months. Given the rarity of the tumour, there are no data from randomised phase III trials to guide management. Aggressive multimodality treatment offers the highest chance of disease control and prolonged overall survival.1,4 Palliative debulking can be of benefit if curative resection is not feasible. Radiotherapy is best employed as consolidation treatment after chemotherapy and surgery.1,5

Combination chemotherapy is the backbone of therapy and offers improved progression-free survival. The P6 protocol,6 which uses alternating cycles of VAC and IE with 21 days between cycles, is most widely employed. Subsequent high-dose myeloablative chemotherapy with autologous stem cell support may be beneficial.4

1 Pre-treatment computed tomography scan of the patient’s abdomen, showing multiple hypodense lesions in the enlarged liver