1. Clinical practice guidelines Ljungberg B, Bensalah K, Canfield S, et al: EAU guidelines on renal cell carcinoma: 2014 update. Eur Urol 67:913-24, 2015 European clinical practice guidelines on the classification of renal cell carcinoma providing levels of evidence for the recommendations (adhering to Preferred Reporting Items for Systematic Reviews and (PRISMA) guidelines). 27 Jan 2015 2. Literature review Koul H, Huh J-S, Rove KO, et al. Molecular aspects of renal cell carcinoma: a review. American Journal of Cancer Research. 2011;1(2):240-54. Literature review of current epidemiology, pathophysiology, evaluation, treatment, and future research directions of RCC. Molecular aspects of renal cell carcinoma: a review 2011 3. 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 4. Health economics study Sabatini LM, Mathews C, Ptak D, et al: Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology. J of Mol Diagn 18:319-328, 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 2014 analyses
generated -advanced non–small-cell lung cancer sensorineural hearing loss, and paediatric neurodevelopmental disorders of unknown genetic aetiology. Hydatidiform Moles Type of study design* Title 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. Study of diagnostic accuracy Furtado LV, Paxton CN, Jama MA, et al: Diagnostic utility of microsatellite genotyping for molar pregnancy testing. Arch Pathol Lab Med 137:55-63, 2013 A study of molecular genotyping for diagnosing and classifying hydatidiform mole to distinguish differences in risk for persistent gestational trophoblastic disease. Data on 102 cases were presented; 48 were classified as hydatidiform mole (31 complete hydatidiform mole; 17 partial hydatidiform mole) demonstrating the utility of microsatellite genotyping for accurate classification of hydatidiform mole. 2 Jan 2013 2. Study of diagnostic accuracy LeGallo RD, Stelow EB, Ramirez NC, Atkins KA. Diagnosis of hydatidiform moles using p57 and HER2 fluorescent in situ hybridization. Am J Clin Pathol. A study of HER2 FISH for the diagnosis and classification of 54 cases of hydatidiform moles (HM) demonstrating the utility of HER2 FISH and IHC for p57 in the evaluation of HM, especially when triploid content is 2008
seen. Granulosa Cell Ovarian Tumour Type of study design* Title 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. Study of diagnostic accuracy Rosario R, Cohen PA, Shelling AN: The role of FOXL2 in the pathogenesis of adult ovarian granulosa cell tumours. Gynecol Oncol 2014 A review of 52 research papers, nine of which investigated the pathogenic effect of FOXL2 allele. The evidence of these studies demonstrated the role of FOXL2 402C>G mutation in the development of adult ovarian granulosa cell tumours. The role of FOXL2 in the pathogenesis of adult ovarian granulosa cell tumours May 2016 2. 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 3. 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 Diagn 18:319-328, 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 2014
lung cancer sensorineural hearing loss, and paediatric neurodevelopmental disorders of unknown genetic aetiology. Salivary Gland Tumours Type of study design* Title 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. Educational Stenner M, Klussmann JP. Current update on established and novel biomarkers in salivary gland carcinoma pathology and the molecular pathways involved. Eur Arch Otorhinolaryngol. Review of new information on the molecular pathology of salivary gland tumours Current update on established and novel biomarkers in salivary gland carcinoma pathology and the molecular pathways involved 2009 3. Educational publication Simons SA, Bridge JA, Leon ME: Sinonasal small round blue cell tumors: An approach to diagnosis. Semin Diagn Pathol 2016 US review of diagnosis the difficulties of sinonasal tumours diagnosis and the requirement for immunohistochemical and molecular studies in non-specific cases. Sinonasal small round blue cell tumors: An approach to diagnosis 21 Nov 2015 3. Study of diagnostic accuracy Clauditz TS, Gontarewicz A, Wang C-J, et al. 11q21 Rearrangement is a Frequent and Highly Specific Genetic Alteration in Mucoepidermoid Carcinoma. Diagnostic Molecular Study of 1200 salivary gland adenomas and carcinomas for translocation t(11;19)(q21;p13) involving the MECT1 and MAML2 genes demonstrating the utility of testing to diagnose MEC. 2012
Pathology. 2012;21(3):134-7. 4. Study of diagnostic accuracy Martins C, Cavaco B, Tonon G, et al. A Study of in Mucoepidermoid Carcinoma and Warthin’s Tumor of Salivary Glands. The Journal of molecular diagnostics : JMD. 2004;6(3):205-10. Study of 10 primary MEC and 7 primary Warthin’s tumours for the MECT-MAML2 fusion gene demonstrating the utility of testing to diagnose MEC. . 5. Educational publication Gupta R, Balasubramanian D, Clark JR: Salivary gland lesions: recent advances and evolving concepts. Oral Surg Oral Med Oral Pathol Oral Radiol 119:661-74, 2015 Australian review of changes to the diagnosis of salivary gland lesions and implications for patient management highlighting the importance of molecular testing. Salivary gland lesions: recent advances and evolving concepts 5 May 2015 6. Observational study Sethi R, Kozin E, Remenschneider A, et al. Mammary analogue secretory carcinoma: update on a new diagnosis of salivary gland malignancy. Laryngoscope. Review of diagnosis of mammary secretory carcinoma Mammary analogue secretory carcinoma: Update on a New Diagnosis of Salivary Gland Malignancy 2014 7. Observational study Bishop JA. Unmasking MASC: Bringing to Light the Unique Morphologic, and Genetic Features of the Newly Recognized Mammary Analogue Secretory Carcinoma of Salivary Glands. Head and Neck Pathology. 2013;7(1):35-9. Review of diagnosis of mammary secretory carcinoma Unmasking MASC: Bringing to Light the Unique Morphologic, and Genetic Features of the Newly Recognized Mammary Analogue Secretory Carcinoma of Salivary Glands 2013
patients were available for for overall survival (OS) and progression-free survival (PFS) were analyzed. The study found that HNNMC has a poor prognosis. Chemotherapy or radiation alone is often inadequate therapy but aggressive initial surgical resection with or without postoperative chemoradiation or radiation is associated with significantly enhanced survival. Secretory Carcinoma of the Breast Type of study design* Title 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. Observational study Vasudev P, Onuma K. Secretory Breast Carcinoma: Unique, Triple-Negative Carcinoma With a Favorable Prognosis and Characteristic Molecular Expression. Archives of Pathology & Laboratory Medicine. A review of the features of this rare breast cancer sub-type. 2011 2. Study of diagnostic accuracy Lae M, Freneaux P, Sastre-Garau X, et al. Secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the basal-like A study of six cases to determine the phenotypic class (ie luminal A/B, ERBB2, basal-like) of secretory breast carcinoma. The ETV6 rearrangement . 2009
carcinoma spectrum. Mod Pathol. 2009;22(2):291-8. was confirmed in all cases by FISH. These results demonstrated that secretory breast carcinomas have immunohistochemical and genetic features that distinguish them from other basal-like tumours of the breast. 3. 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 4. Study of diagnostic accuracy 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 A study demonstrating subgroups of glioblastomas (GBM) that can be identified by specific molecular markers (H3F3A and IDH1 mutations). 16 Oct 2012 5. 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 Diagn 18:319-328, 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 2014