chemotherapy in newly diagnosed anaplastic oligodendroglioma: long-term follow-up of EORTC brain tumor group study 26951. J Clin Oncol. 2013;31(3):344-50. vincristine (PCV) chemotherapy to radiotherapy (RT) (368 patients, median follow-up 140 months) In the 80 patients with a 1p/19q codeletion, OS was increased, demonstrating benefit of adjuvant PCV with RT. IDH mutational status was also of prognostic significance. 5. Meta analysis Hu N, Richards R, Jensen R. Role of chromosomal 1p/19q co-deletion on the prognosis of A systematic review and Interdisciplinary Neurosurgery. 2016;5:58-63. A systematic review and meta-analysis on the prognostic effect of 1p/19q co-deletion affects prognoses of WHO grade II/III oligodendrogliomas. The study demonstrated the beneficial prognosis of chromosomal 1p/19q co-deletion in these tumours. 2016 6. Observational study Staedtke V, Dzaye ODA, Holdhoff M. Actionable Molecular Biomarkers in Primary Brain Tumors. Trends Cancer. 2016;2(7):338-49. of actionable biomarkers available in the diagnosis of brain tumours. (i) MGMT promoter methylation as a prognostic and predictive marker in glioblastoma; (ii) codeletion of 1p and 19q differentiating oligodendrogliomas from astrocytomas; (iii) IDH1/2 mutations; and (iv) select mutations. 2016 7. Observational study Rare Cancers Australia: Just a Little More Time Rare Cancers Update Report. 2016 A review of available cancer data investigating the disparities existing for incidence, mortality and survival across the cancer spectrum. The study provided a definition for rare 2016
cancers, and the burden of disease that rare and less common cancers pose across all ages in Australia 8. Health economics study Sabatini LM, Mathews C, Ptak D, et al: Genomic Sequencing Procedure Microcosting Analysis and Health Economic Analysis: A Report of the Association for Molecular Pathology. J of Mol US Study by Association for Molecular Pathology on cost and value analysis of specific genomic sequencing procedures (GSPs) gathered from representative laboratories’ data. Cost-impact models for three clinical scenarios were generated lung cancer sensorineural hearing loss, and paediatric neurodevelopmental disorders of unknown genetic aetiology. 2016 Gliobastomas Type of study design* of journal article or research project (including any trial identifier or study lead if relevant) Short description of research (max 50 words)** Website link to journal article or research (if available) Date of 1. Clinical practice guidelines Louis DN, Perry A, Burger P, et al: International Society Of consensus guidelines for nervous system tumour classification and grading. Brain Pathol 24:429-35, 2014. International clinical practice guidelines on the classification of nervous system tumours by expert consensus. 10 Sep 2014 2. Clinical practice guidelines Louis DN, Ohgaki H, Wiestler OD, et al: WHO Classification International practice guidelines endorsing the use of Haarlem Book –no URL May 2016 cell -
of Tumours of the Central Nervous System (ed 4th). Lyon, IARC Press, 2016 recommendations for the classification of CNS tumours. 3. Observational Sturm D, Witt H, Hovestadt V, et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell. 2012;22(4):425-37. A study of 136 cases of glioblastoma (GBM) that identified H3F3A and IDH1 molecular subgroups. 2012 4. Study of diagnostic accuracy Cahill DP, Louis DN, Cairncross JG: Molecular background of oligodendroglioma: 1p/19q, IDH, TERT, CIC and FUBP1. CNS Oncol 4:287-94, 2015 A study into molecular identification of oligodendroglioma as a subcategory of gliomas. The findings provided a foundation for the consistent diagnosis of the tumour type, for which there is a strong evidence base for effective treatment with radiation and chemotherapy. 7 Nov 2015 5. Observational study Staedtke V, Dzaye ODA, Holdhoff M. Actionable Molecular Biomarkers in Primary Brain Tumors. Trends Cancer. 2016;2(7):338-49. of actionable biomarkers available in the diagnosis of brain tumours. (i) MGMT promoter methylation as a prognostic and predictive marker in glioblastoma; (ii) codeletion of 1p and 19q differentiating oligodendrogliomas from astrocytomas; (iii) IDH1/2 mutations; and (iv) select mutations. 2016 6. Observational study Rare Cancers Australia: Just a Little More Time Rare Cancers Update Report. 2016 A review of available cancer data investigating the disparities existing for incidence, mortality and survival across the 2016 associated
cancer spectrum. The study provided a definition for rare cancers, and the burden of disease that rare and less common cancers pose across all ages in Australia 7. Health economics Sabatini LM, Mathews C, Ptak D, et al: Genomic Sequencing Procedure Microcosting Analysis and Health Economic Analysis: A Report of the Association for Molecular Pathology. J of Mol Diagn US Study by Association for Molecular Pathology on cost and value analysis of specific genomic sequencing procedures (GSPs) gathered from representative laboratories’ data. Cost-impact models for three clinical scenarios were generated lung cancer sensorineural hearing loss, and paediatric neurodevelopmental disorders of unknown genetic aetiology. 2016 Soft Tissue and Bone Tumours Type of study design* Title of journal article or research project (including any identifier or study lead if relevant) Short description of research (max 50 words)** Website link to journal article or research (if available) Date of 1. Prospective, multicentre, observational study Italiano A, Di Mauro I, Rapp J, et al: Clinical effect of molecular methods in sarcoma diagnosis (GENSARC): a prospective, multicentre, observational A study of 384 patients assessing the clinical effect of systematic implementation of molecular assays to improve sarcoma diagnosis, by the identification of aberrations. The study concluded that molecular genetic 9 Mar 2016 -
study. Lancet Oncol 2016;17(4):532-8 testing should be mandatory for diagnostic accuracy and appropriate clinical management of sarcoma. 2. Educational publication Agaimy A, Haller F: CTNNB1 Neoplasia: A Review Focusing on Soft Tissue Neoplasms and Parenchymal Lesions of Uncertain Histogenesis. Adv Anat Pathol 2016;23:1-12. A review of pathobiology and differential diagnosis of rare neoplasms, highlighting the diagnostic utility of detection of beta catenin mutations in the diagnosis of soft tissue neoplasms. 10 Dec 2016 3. Study of diagnostic accuracy Vargas AC, Selinger C, Satgunaselan L, et al: Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases. Histopathology A study in NSW of fluorescence in situ hybridization (FISH) for the EWSR1 gene in the classification and differential diagnosis of bone and soft tissue tumours. The confirmed that FISH is a sensitive and specific tool in the diagnosis of tumours. 2016 4. Observational study Rare Cancers Australia: Just a Little More Time Rare Cancers Update Report. 2016 A review of available cancer data investigating the disparities existing for incidence, mortality and survival across the cancer spectrum. The study provided a definition for rare cancers, and the burden of disease that rare and less common cancers pose across all ages in Australia 2016