Oral Presentation COSA-IPOS Joint Scientific Meeting 2012

Molecular classification and DNA sequence profiling for actionable mutations in Carcinoma of Unknown Primary (#39)

Richard Tothill 1 , Lisa Paiman 2 , Linda Mileshkin 1 , Evangeline Buela 2 , Fan Shi 3 , Adam Kowalczyk 3 , Robert Klupacs 4 , Keith Byron 2 , David Bowtell 1
  1. Peter MacCallum Cancer Centre and the University of Melbourne, Melbourne, Vic, Australia
  2. Healthscope Advanced Pathology, Clayton, Vic, Australia
  3. National (ICT) Australia, Parkville, Vic, Australia
  4. Circadian Technologies Limited, Toorak, Vic, Australia

Carcinoma of unknown primary (CUP) is amongst the top 10 causes of cancer death in Western nations. It is a disease characterised by rapid progression, atypical metastatic pattern and poor prognosis, with a median survival of between 6 to 13 months. Patients with CUP span a clinical spectrum from those with disseminated disease with no obvious originating site, to others with a prior history of malignancy and a query of a recurrence versus a new primary.  Younger and more able patients may have had extensive clinical and pathological investigation that has failed to yield a definite site of origin, whereas the limited work up of some older or frail patients can contribute to a diagnosis of unknown primary. Patients diagnosed with CUP commonly lack of effective treatments, information and support. It is thought that CUP tumours share a common tendency to metastasize early, however, in reality very little is known of their biology.

More effective diagnosis of site of origin and better clinical approaches are urgently needed. The presentation will describe our work on the development of a gene expression-based predictor of site of origin and systematic surveys of mutated genes to understand the drivers of disease and our pilot studies to identify novel therapeutic targets.