ORCID Profile
0000-0002-8108-7608
Current Organisation
Princess Alexandra Hospital
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Publisher: American Association for Cancer Research (AACR)
Date: 15-02-2020
DOI: 10.1158/1538-7445.SABCS19-P4-07-07
Abstract: Background. Next-generation sequencing (NGS) technology enables profiling of in idual tumours and to measure the increasing number of biomarkers relevant to the management of breast cancer patients. The Australian Translational Genomics Centre (ATGC) is a collaboration between the healthcare sector (Metro South Hospital and Health Service), higher education sector (Queensland University of Technology) and a government-run pathology service (Pathology Queensland) to provide genomic profiling of breast cancer patients at the Princess Alexandra Hospital. The program was developed to integrate the ordering, processing and interpretation of large-scale NGS into clinical practice. Methods. Patients were consented for somatic testing and ordering was integrated into the hospital’s electronic ordering system. S les were derived from fresh tissue biopsies after surgeries (47%) or from FFPE histology sections. No selection criteria were applied during the initial phase and the cohort was representative of newly presenting patients at the hospitals breast cancer clinic. Patients were sequenced using a NATA-accredited ISO15189 program using whole-exome sequencing (WES) combined with a high-coverage spike-in panel of known cancer genes. Clinical reports included the calculation of tumour purity, tumour mutational burden (TMB), the assessment of copy number events and somatic mutations down to 3% allele frequency. Standard molecular testing in Australia includes ER, PR and HER2 status, and additional testing included testing of Tier 1-2 somatic variants in the genes ABCC3, AKT1, CCND1, CCNE1, CDKN2A, ERBB2, ESR1, FGF3, FGFR1, FGFR2, MTOR, NCOA3, NF2, PIK3CA, PIK3R1, PTEN, RB1, RSF1, SF3B1, TP53. Results. Seventy-one patients were tested by WES anel, and an average of 1.5 clinically significant Tier 1- 2 mutations were detected per patient. In 77% of cases, the molecular profiling could stratify patients to those with either PI3K/Akt/mTOR pathway activation (by PIK3CA activating mutations, AKT, MTOR mutations or PTEN loss) or CDK4/6 activation (by CCND1 expansion or CDKN2A loss). The most frequently observed mutations were PIK3CA activation (40%) and CCND1 copy number expansions (24%). A small proportion (n=3) were found to have mTOR or TCS1/2 mutations reported to have association with a durable response to mTOR inhibitors. Additionally, 11 patients (15%) had a high TMB (TMB, & .8 mutations/megabase) with 6 having & mutations/Mb. Within this high-TMB cohort, 3 were found to be ER-PR-HER-, however, the majority (n=7) were ER+PR+HER2- patients. Calculation of the tumour purity indicated that, despite expert resection of the biopsies to isolate the most tumour dense regions, tumour purity was not significantly enriched. In 58% of cases, the tumour purity was less than 50%, and in 13% of s les, it was less than 25%, indicating that in clinical practice the method of sequencing must be robust, as many s les have significant amounts of contaminating stroma. Conclusion. We demonstrate that integration of WES anel testing into clinical practice is practical and provides multiplexed testing of current and emerging biomarkers in a significant number of tested patients. While a high proportion of patients had mutations that could stratify them to targeted therapies in the event of metastatic disease, the somatic molecular profiles did not modify first line therapy decision-making. Training of clinical staff for patient consent and the dissemination of findings, the development of a dedicated molecular tumour board, and decision protocols to identify patients of metastatic risk were identified as key developments in this clinical program. The program identified previously unidentified subsets of patients including a subset of ER+ patients with high TMB for which for there are no effective treatments option in Australia. Citation Format: Kate Roberts, Paul J Leo, Jeremy Khoo, Alice Febery, Jonathan Ellis, Mhairi Clout, Lawrie Wheeler, Lisa Anderson, Matthew Brown, Ian Bennett. Establishing whole-exome sequencing for breast cancer patient care [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium 2019 Dec 10-14 San Antonio, TX. Philadelphia (PA): AACR Cancer Res 2020 (4 Suppl):Abstract nr P4-07-07.
Publisher: Wiley
Date: 22-01-2014
DOI: 10.1002/HED.23519
Abstract: Granuloma of the upper aerodigestive tract is a rare presentation of immunoglobulin-G4 (IgG4)-related disease. Since the disease process was defined in 2003, only 2 cases affecting the laryngopharynx have been reported in the literature. A 62-year-old white man presented with persistent productive cough of brown sputum, globus symptoms, dysphagia, odynophagia, dysphonia, otalgia, and general malaise over a period of 2 months. Investigations revealed IgG4-positive plasma cell granuloma of the supraglottic region. This was successfully treated with oral corticosteroids. Because IgG4 testing is not performed routinely, management recommendations have been poorly defined. We reviewed the literature and discuss herein the clinical characteristics, pathology, diagnosis, and management. The authors theorize that IgG4-related disease involving the larynx and pharynx may be more common than suggested by the paucity of reported cases.
Publisher: Hindawi Limited
Date: 20-04-2016
DOI: 10.1111/TBJ.12595
Abstract: To examine practice patterns for breast cancer patients with limited sentinel node (SN) disease in light of the ACOSOG Z0011 results. Retrospective analysis of patients with T1-2 breast cancer and positive sentinel lymph node biopsy (SLNB) admitted between January 2009 and December 2012. Patient demographics, tumor characteristics, and treatments were recorded. Eight hundred positive SLNBs were identified. A total of 452 (56.5%) proceeded to completion axillary lymph node dissection (cALND). cALND rate decreased from 65.1% to 49.7% from 2009-2010 to 2011-2012. cALND was performed for micrometastasis or isolated tumor cells in 39.3% in 2009-2010 and 22.2% in 2011-2012, whereas for macrometastases the rates were 83.1% and 68.6%, respectively. cALND rates diminished for both Z0011-eligible and -ineligible patients. The ACOSOG Z0011 trial presentation and publication coincided with a reduction in cALND for breast cancer with limited nodal disease. There appears equipoise regarding management of macrometastatic SN disease.
Publisher: Wiley
Date: 05-02-2018
DOI: 10.1111/ANS.14404
Publisher: Hindawi Limited
Date: 24-05-2020
DOI: 10.1111/TBJ.13883
Publisher: Hindawi Limited
Date: 20-08-2020
DOI: 10.1111/TBJ.14026
Publisher: Wiley
Date: 23-08-2022
DOI: 10.1002/AJUM.12315
Abstract: The introduction of breast screening programs has led to the increased detection of occult breast lesions requiring diagnostic surgical biopsy or breast‐conserving surgery for early‐stage breast cancer. Excision of impalpable breast lesions can be challenging. Whilst a variety of techniques have now been described including the use of adjuncts such as hook wires, radioactive seeds, magnetic seeds or radiofrequency devices, many of these modalities are expensive and can be logistically problematic. The technique of surgeon‐performed ultrasound‐guided excision is a straightforward technique which is safe, cost‐efficient and avoids a painful preoperative procedure for patients such as hook wire localisation. Whilst the use of intraoperative ultrasound‐guided excision of breast lesions has been widely reported, the actual technique itself has been less well described.
Publisher: Elsevier BV
Date: 2012
DOI: 10.2484/RCR.V7I3.713
Publisher: Wiley
Date: 26-06-2021
DOI: 10.1002/AJUM.12277
Abstract: A recent survey of surgeon performed ultrasound usage was conducted amongst registered members of the Breast Surgeons of Australia and New Zealand Society (BreastSurgANZ) and was compared with a previous survey undertaken in 2010 to determine whether patterns of utilization had changed. From July to September 2019, members of BreastSurgANZ were invited to complete an electronic online survey of personal usage of breast ultrasound focusing on ultrasound equipment access, use of office and intraoperative ultrasound, biopsy interventions and training expectations. There were 73 respondents to the survey with 45 (61.6%) members indicating access to ultrasound within their practices. Whilst current regular ultrasound usage (68.1%) was only slightly greater than in 2010 (66%), the proportion of respondents not performing any form of needle intervention had increased (62.5% compared to 53% in 2010) and with the proportion of surgeons currently performing biopsies per month decreasing from 10% to only 5.56%. However the percentage of surgeons utilizing intraoperative ultrasound had notably increased since 2010 with 49.3% currently using ultrasound in the operating room compared with only 17% previously. The majority of respondents believed that breast ultrasound training should be conducted through BreastSurgANZ post fellowship training programs. The overall utilization of surgeon‐performed ultrasound amongst BreastSurgANZ members has remained similar over the past 9 years with the performance of needle interventions declining slightly, but with the application of intraoperative ultrasound having increased. An ultrasound training curriculum as part of the BreastSurgANZ post fellowship training program is a necessary imperative.
Publisher: Wiley
Date: 23-07-2022
DOI: 10.1111/ANS.17933
Abstract: Lumbar hernias are rare and its posterior location presents challenges in its repair. This article provides a pictorial description of the approach to repairing a lumbar hernia demonstrating a laparoscopic transabdominal preperitoneal technique that is easy to follow and take up.
No related grants have been discovered for Fuquan Khoo.