Genomes and Genes
Anthony J Gill
Affiliation: University of Sydney
- Low O6-methylguanine-DNA methyltransferase (MGMT) expression and response to temozolomide in aggressive pituitary tumoursAnn I McCormack
Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW, Australia
Clin Endocrinol (Oxf) 71:226-33. 2009..Recent case reports detail the successful use of temozolomide in the management of aggressive pituitary tumours. O(6)-methylguanine-DNA methyltransferase (MGMT) is a DNA repair protein that counteracts the effect of temozolomide...
- Synoptic reporting improves histopathological assessment of pancreatic resection specimensAnthony J Gill
Department of Anatomical Pathology, Royal North Shore Hospital, Pacific Highway, St Leonards, NSW, Australia
Pathology 41:161-7. 2009..We examined whether introduction of a standardised pancreatic cancer minimum data set improved the reporting of key pathological features across multiple institutions...
- Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromesAnthony J Gill
Department of Anatomical Pathology, Royal North Shore Hospital, Sydney 2065, Australia
Hum Pathol 41:805-14. 2010..Completely absent staining is more commonly found with SDHB mutation, whereas weak diffuse staining often occurs with SDHD mutation...
- Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4Anthony J Gill
University of Sydney, Sydney, NSW, Australia
N Engl J Med 364:885-6. 2011..This letter indicates that immunohistochemical analysis to detect succinic dehydrogenase subunit B (SDHB) protein can screen renal tumors for underlying SDHB germline mutations at a fraction of the time and cost of formal genetic testing...
- Succinate dehydrogenase (SDH) and mitochondrial driven neoplasiaAnthony J Gill
Department of Anatomical Pathology and Northern Cancer Translational Research Unit, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Pathology 44:285-92. 2012..Immunohistochemistry for SDHB therefore has emerged as a useful tool to recognise these distinct neoplasias driven by mitochondrial complex 2 dysfunction and to triage formal genetic testing for the associated syndromes...
- Renal tumors associated with germline SDHB mutation show distinctive morphologyAnthony J Gill
Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, NSW, 2065, Australia
Am J Surg Pathol 35:1578-85. 2011..These renal tumors appear to have a good prognosis after complete excision unless there is sarcomatoid dedifferentiation...
- Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct typesAnthony J Gill
Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales 2065, Australia
Am J Surg Pathol 34:636-44. 2010..GISTs may therefore be divided into type 1 (SDHB positive) and type 2 (SDHB negative) subtypes...
- MicroRNA profiling of sporadic and hereditary medullary thyroid cancer identifies predictors of nodal metastasis, prognosis, and potential therapeutic targetsDeepak Abraham
Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, Sydney, New South Wales, Australia
Clin Cancer Res 17:4772-81. 2011..Our aim was to study the miRNA profile of MTC to identify prognostic biomarkers and potential therapeutic targets...
- Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase-deficient Gastrointestinal Stromal TumorsTrisha Dwight
Cancer Genetics, Hormones and Cancer Group, Kolling Institute of Medical Research Department of Anatomical Pathology Northern Cancer Translational Research Unit, Royal North Shore Hospital Sydney Medical School, University of Sydney, Sydney Hunter Area Pathology Service, Newcastle, NSW Ludwig Institute for Cancer Research and Royal Melbourne Hospital, Melbourne, Vic, Australia
Am J Surg Pathol 37:226-33. 2013..In conclusion, 30% of SDH-deficient GISTs in this study were associated with germline SDHA mutation. Negative staining for SDHA can be used to triage formal genetic testing for SDHA when an SDH-deficient GIST is encountered...
- Succinate dehydrogenase-deficient GISTs are characterized by IGF1R overexpressionAngela Chou
Department of Anatomical Pathology, SydPath, St Vincent s Hospital, Sydney, NSW, Australia
Mod Pathol 25:1307-13. 2012..Therefore, IGF1R inhibition represents a potential rational therapeutic approach in this recently recognized subgroup of GIST...
- Nuclear accumulation of e-cadherin correlates with loss of cytoplasmic membrane staining and invasion in pituitary adenomasMarianne S Elston
Cancer Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW, Australia
J Clin Endocrinol Metab 94:1436-42. 2009..Pituitary tumors, although typically benign, may be locally invasive, and loss of membranous E-cadherin has been reported as a marker of invasion in prolactinomas...
- MicroRNA profiling of benign and malignant pheochromocytomas identifies novel diagnostic and therapeutic targetsGoswin Y Meyer-Rochow
Cancer Genetics, Hormones and Cancer Group, Kolling Institute of Medical Research, Department of Endocrine and Oncology Surgery, Royal North Shore Hospital, St Leonards, Sydney, NSW 2065, Australia
Endocr Relat Cancer 17:835-46. 2010..These data indicate that miRNAs play a pivotal role in the biology of malignant pheochromocytoma, and represent an important class of diagnostic and prognostic biomarkers and therapeutic targets warranting further investigation...
- BRAF(V600E) mutation is associated with an increased risk of nodal recurrence requiring reoperative surgery in patients with papillary thyroid cancerChristine J O'Neill
Endocrine Surgical Unit, University of Sydney, St Leonards, New South Wales, Australia
Surgery 148:1139-45; discussion 1145-6. 2010..Some studies suggest that tumors containing BRAF(V600E) have decreased radioiodine avidity and present a greater risk of nodal recurrence and distant metastases...
- CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumorsMichael A Hahn
Hormones and Cancer Group, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, E25, St Leonards, New South Wales 2065, Australia
Endocr Relat Cancer 17:273-82. 2010....
- Papillary thyroid carcinoma in pregnancy: a variant of the disease?James C Lee
Endocrine Surgical Unit, Royal North Shore Hospital, Sydney, NSW, Australia
Ann Surg Oncol 19:4210-6. 2012..We aim to examine clinically if pregnancy is an adverse factor in PTC, and if pregnancy-associated PTC are biologically different from those in nonpregnant women in terms of their miRNA profiles...
- The glucocorticoid receptor is overexpressed in malignant adrenocortical tumorsLyndal J Tacon
Cancer Genetics Unit, Hormones and Cancer Group, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW 2006, Australia
J Clin Endocrinol Metab 94:4591-9. 2009..We recently discovered that the glucocorticoid receptor (GR) gene NR3C1 is significantly up-regulated in ACCs compared with ACAs in global gene expression studies...
- The tumor suppressor CDC73 interacts with the ring finger proteins RNF20 and RNF40 and is required for the maintenance of histone 2B monoubiquitinationMichael A Hahn
Hormones and Cancer Group, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, NSW 2065, Australia
Hum Mol Genet 21:559-68. 2012..We conclude that CDC73 is required for the maintenance of H2B-K120 monoubiquitination and propose that reduction in levels of monoubiquitinated H2B-K120 is a major mechanism whereby mutations in CDC73 exert their tumorigenic effect...
- Hypercalcaemia due to parathyroid carcinoma presenting in the third trimester of pregnancyRyan G Paul
Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand
Aust N Z J Obstet Gynaecol 52:204-7. 2012..We present a case of parathyroid carcinoma in pregnancy presenting with pre-eclampsia at 32 weeks' gestation...
- Clinical and immunohistochemical features of 34 solid pseudopapillary tumors of the pancreasNam Q Nguyen
Department of Gastroenterology, Bankstown Hospital, New South Wales, Australia
J Gastroenterol Hepatol 26:267-74. 2011..Clinicopathological data regarding pancreatic solid pseudopapillary tumors (SPT) in a multiethnic country are limited. The aim of the present study was to characterize pancreatic SPT in Australia...
- Mucoepidermoid carcinoma of the thyroid: a report of three cases and postulated histogenesisRuth S Prichard
Department of Endocrine and Oncology Surgery, Royal North Shore Hospital, Sydney, Australia
Thyroid 22:205-9. 2012....
- Wnt pathway inhibitors are strongly down-regulated in pituitary tumorsMarianne S Elston
Cancer Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, New South Wales 2065, Australia
Endocrinology 149:1235-42. 2008..In conclusion, our data suggest that WIF1 may be a tumor suppressor, specifically in nonfunctioning pituitary tumors, and that the Wnt pathways are important in pituitary tumorigenesis...
- Preoperative body composition is influenced by the stage of operable pancreatic adenocarcinoma but does not predict survival after Whipple's procedureAlireza Aslani
Department of Nuclear Medicine, Northern Clinical School, University of Sydney at Royal North Shore Hospital, St Leonards, NSW, Australia
HPB (Oxford) 12:325-33. 2010..Therefore, this study was carried out to document body composition status in patients with pancreatic adenocarcinoma (PCa) presenting for a Whipple's procedure (WP) and to relate the findings to histopathology and longterm survival...
- Drug-induced thyroiditis and papillary carcinoma in a minocycline-pigmented black thyroid glandLyndal Tacon
Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia
Thyroid 18:795-7. 2008..We postulate that in addition to causing black thyroid pigmentation, chronic minocycline use in our patient resulted in thyroiditis and subsequent hyperthyroidism. The papillary microcarcinoma was probably a coincidental finding...
- Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromesDeborah J Marsh
University of Sydney, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW 2065, Australia 61 2 9926 8486 61 2 9926 8484
Expert Opin Med Diagn 1:377-92. 2007..This review focuses on familial hyperparathyroidism and its known causative genes in the setting of neoplastic syndromes, with particular discussion of recent developments in the molecular diagnosis of parathyroid carcinoma...
- RON is not a prognostic marker for resectable pancreatic cancerCarole M Tactacan
Cancer Research Program, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia
BMC Cancer 12:395. 2012..However, the prognostic significance of RON expression in pancreatic cancer is unknown...
- Intra-abdominal insular thyroid carcinoma metastasisGoswin Y Meyer-Rochow
Department of Endocrine Surgery, Royal North Shore Hospital, University of Sydney, Australia
Thyroid 19:527-30. 2009..Here we present the management and outcome of a young patient with a large radioiodine resistant intra-peritoneal metastasis of insular thyroid cancer...
- Immunohistochemistry for Merkel cell polyomavirus is highly specific but not sensitive for the diagnosis of Merkel cell carcinoma in the Australian populationJulie Y Paik
The Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, 2065 Australia
Hum Pathol 42:1385-90. 2011....
- Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinomaGeoffrey Hall
Institute of Clinical Pathology and Medical Research, Department of Anatomical Pathology, Westmead Public Hospital, Westmead, Australia
Pathology 42:409-13. 2010..We propose that staining for PMS2 and MSH6 alone will be sufficient to detect all cases of mismatch repair deficiency and should replace routine screening with all four antibodies...
- Von hippel-lindau syndromeAngela Chou
Department of Anatomical Pathology, St Vincents Hospital, Darlinghurst, N S W, Australia
Front Horm Res 41:30-49. 2013..Surveillance of carriers can reduce the burden of disease and is best performed in specialist referral centers with due consideration given to both the complex molecular pathogenesis and psychosocial aspects of the disease...
- Improving Diagnosis of Tumor-Induced Osteomalacia With Gallium-68 DOTATATE PET/CTRoderick J Clifton-Bligh
Centre for Cancer Imaging, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002, Australia
J Clin Endocrinol Metab 98:687-94. 2013..Serum phosphate should be measured routinely in patients with unexplained muscle weakness, bone pain, or stress fractures to allow earlier diagnosis of TIO...
- Pancreatic cancer genomes reveal aberrations in axon guidance pathway genesAndrew V Biankin
The Kinghorn Cancer Centre, 370 Victoria Street, Darlinghurst, Sydney, New South Wales 2010, Australia
Nature 491:399-405. 2012....
- Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasiasAnthony J Gill
Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, Australia
Am J Surg Pathol 30:1140-9. 2006..We conclude that, in the correct clinical and pathologic context, complete absence of nuclear staining for parafibromin is diagnostic of parathyroid carcinoma or an HPT-JT-related tumor...
- Breast cancer-associated fibroblasts induce epithelial-to-mesenchymal transition in breast cancer cellsPatsy S H Soon
Hormones and Cancer Group, Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, New South Wales, Australia
Endocr Relat Cancer 20:1-12. 2013....