Browsing by Author "Lau, Harold Y"

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    Management delays in patients with squamous cell cancer of neck node(s) and unknown primary site: a retrospective cohort study
    (2017-05-08) Martell, Kevin; Mackenzie, Joanna; Kerney, Warren; Lau, Harold Y
    Abstract Background We aim to characterize the workup received by and identify any delays to diagnosis or treatment in patients referred to a tertiary cancer centre with the diagnosis of squamous cell carcinoma in neck node(s) and no identifiable primary (SCCNIP). Methods Over 1 year, 68 patients were initially referred to the Head and Neck clinic with a label of “primary unknown”. After extensive workup, 29 of the 68 patients were found to have pathologically confirmed SCCNIP. For these 29 patients, imaging tests, biopsies, examinations and times to treatment were reviewed and compared to 145 patients referred for known primaries. Results In 21/29 (72%) patients, ultrasound was ordered prior to biopsy or referral. After referral, the first imaging test used was CT neck in 28 patients and PET/CT in 1 patient. Median time from referral to primary identification (n = 23) or workup completion (n = 6) were 16 (range: 0-48) and 36 (17-82) days respectively. Median time from referral to treatment was 55 (27-90; n = 26) days and was longer than those referred for known primaries (48 days; 20-162; p < 0.001). Across all patients, median time between first diagnostic imaging test and pathologic diagnosis were 20.5 and -8.0 days (p < 0.0001) in patients receiving ultrasound and CT, respectively. Conclusions In our cohort, delays to management were linked to community use of ultrasound and scheduling of both CT and PET/CT after thorough head and neck examination in patients with SCCNIP.
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    MYB-NFIB gene fusions identified in archival adenoid cystic carcinoma tissue employing NanoString analysis: an exploratory study
    (2019-07-13) McIntyre, John B; Ko, Jenny J; Siever, Jodi; Chan, Angela M Y; Simpson, Roderick H W; Hao, Desiree; Lau, Harold Y
    Abstract Background Adenoid cystic carcinoma (ACC) is a slow growing salivary gland malignancy that is molecularly characterized by t(6:9)(q22–23;p23–24) translocations which predominantly result in MYB-NFIB gene fusions in nearly half of tumours. Detection of MYB-NFIB transcripts is typically performed with fresh ACC tissue using conventional RT-PCR fragment analysis or FISH techniques, which are prone to failure when only archival formalin fixed paraffin embedded (FFPE) tissue is available. The purpose of this pilot study was to evaluate the utility of NanoString probe technology for the detection of MYB-NFIB transcripts in archival ACC tissue. Methods A NanoString probeset panel was designed targeting the junctions of three currently annotated MYB-NFIB fusion genes as well as 5′/3′ MYB probesets designed to detect MYB gene expression imbalance. RNA isolated from twenty-five archival ACC specimens was profiled and analyzed. RT-qPCR and sequencing were performed to confirm NanoString results. MYB protein expression was analyzed by immunohistochemistry. Results Of the 25 samples analyzed, 11/25 (44%) expressed a high degree of MYB 5′/3′ imbalance and five of these samples were positive for at least one specific MYB-NFIB variant in our panel. MYB-NFIB variant detection on NanoString analysis was confirmed by direct cDNA sequencing. No clinical correlations were found to be associated with MYB fusion status. Conclusion We conclude that the application of NanoString digital probe counting technology is well suited for the detection and quantification of MYB-NFIB fusion transcripts in archival ACC specimens.