Invasive aspergillosis of the skull base in an immunocompetent patient: a diagnostic challenge

We describe the case of a 32-year-old man from Cape Verde having headache and increasing visual loss. Clinical and radiological investigations disclosed a massive destructive lesion involving the anterior and central skull base, orbit and nasoethmoid region initially interpreted as a malignant small round cell tumour. Surgical biopsies were negative for neoplasm, showing an intense inflammatory infiltrate together with fungus, later characterised as Aspergillus flavus spp. The patient was immunocompetent with no evidence of congenital or acquired immunodeficiencies. Invasive fungal infections in immunocompetent patients are rare and can be a diagnostic challenge. The best diagnostic clues include the patient’s origin from tropical climates, imaging features and the identification of fungal hyphae on pathology specimens. Although a devastating disease in immunocompromised patients, craniocerebral aspergillosis in immunocompetent patients carries a better prognosis. Available literature supports the combined used of ‘conservative’ surgical resection and antifungal therapy as the best treatment option.

Hyperthermic intraperitoneal chemotherapy (HIPEC) as another treatment modality for desmoplastic round cell tumour patients: first paediatric experience from UK

We present the first young paediatric patient with desmoplastic small round cell tumour (DSRCT) treated in UK with hyperthermic intraperitoneal chemotherapy (HIPEC). A 7-year-old girl was diagnosed with abdominal DSRCT with peritoneal and liver metastases. After six cycles of chemotherapy she obtained a partial response, including almost complete resolution of the two liver metastases. It was decided to pursue cytoreductive surgery (CRS) combined with HIPEC, a procedure commonly performed in adults, but seldom in a child. The surgery was macroscopically complete and the HIPEC uncomplicated. She continued treatment without delays, including whole abdomino-pelvic radiotherapy and maintenance chemotherapy (cyclophosphamide/vinorelbine for 12 months). She is currently in complete remission 4 months after end of treatment and 26 months after diagnosis. HIPEC was made possible by successful collaboration between multiple teams. CRS-HIPEC proved to be safe and feasible and could be offered to other children with diagnoses of peritoneal malignancies across the UK.

Soft-Tissue Sarcomas

This chapter discusses soft-tissue sarcomas (STS) in children and adolescents, which comprise approximately 8% of all paediatric malignancies. It highlights the clinical, pathological, and biological characteristics of this heterogeneous group of tumors derived from mesenchymal cells, and it describes the current management and the treatment results. The first part of the chapter is dedicated to the most frequent paediatric STS, rhabdomyosarcomas (RMS), while the second part covers the diagnosis and treatment strategies for non-rhabdomyosarcoma STS (NRSTS) including synovial sarcomas (SS), adult-type NRSTS, and other histotypes (infantile fibrosarcoma (IFS), desmoplastic small round-cell tumour (DSRCT), and malignant rhabdoid tumour (MRT)).

Desmoplastic small round-cell tumour of the peritoneal cavity: case report and literature review

Desmoplastic small round-cell tumour is a very rare neoplasm, which usually arises from the abdominal or pelvic peritoneum of adolescents and young adults. Early diagnosis is difficult, because most tumours present with non-specific gastrointestinal symptoms after a long asymptomatic period. It is generally a very aggressive tumour, which grows rapidly with poor prognosis and an overall five-year survival rate of 15% despite multimodal treatment. Despite multiple treatment strategies, the management of desmoplastic small round-cell tumour still remains a clinical challenge and no consensus about a therapeutic protocol has been established. A 35-year-old man presented with mild abdominal pain, constipation and weight gain, and was eventually diagnosed with desmoplastic small round-cell tumour, which was shown to be limited to the abdomen. After incomplete debulking surgery, radiotherapy and chemotherapy, he developed multiple metastatic nodular foci in chest and the pleura and, unfortunately, he died due to disease progression.

Desmoplastic small round cell tumour in the Afro-Caribbean population: case report with imaging findings

Desmoplastic Small Round Cell Tumour (DSRCT) is a rare malignancy that has only a few cases documented in the literature. We report a case of DSRCT in the abdomen and pelvis that was identified following ultrasound-guided biopsy of one of the numerous liver lesions seen on imaging in a 13-year-old Afro-Caribbean female with increased abdominal girth. The tumour was characterized by all routine imaging modalities available at the time. To our knowledge, this is the first reported and published case in the English speaking Caribbean. In the review of the literature, we correlate the imaging findings with previously reported cases. The diagnosis of DSRCT cannot be made solely using standard imaging techniques, but radiologists should be suspicious of DSRCT as a differential diagnosis in a young patient with increased abdominal girth, multiple liver and peritoneal deposits seen on imaging. Written informed consent for the case to be published (incl. images, case history, and data) was obtained from the parents of this patient for publication of this case report, including accompanying images.