Displaying publications 1 - 20 of 65 in total

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  1. Akhter A, Mughal MK, Elyamany G, Sinclair G, Azma RZ, Masir N, et al.
    Diagn Pathol, 2016 Sep 15;11(1):89.
    PMID: 27632978 DOI: 10.1186/s13000-016-0541-z
    The World Health Organization (WHO) classification system defines recurrent chromosomal translocations as the sole diagnostic and prognostic criteria for acute leukemia (AL). These fusion transcripts are pivotal in the pathogenesis of AL. Clinical laboratories universally employ conventional karyotype/FISH to detect these chromosomal translocations, which is complex, labour intensive and lacks multiplexing capacity. Hence, it is imperative to explore and evaluate some newer automated, cost-efficient multiplexed technologies to accommodate the expanding genetic landscape in AL.
    Matched MeSH terms: In Situ Hybridization, Fluorescence*
  2. Al Nakshabandi A, Daher AM
    Ear Nose Throat J, 2023 Jan;102(1):20-23.
    PMID: 33320015 DOI: 10.1177/0145561320982164
    Alveolar soft part sarcoma (ASPS) is an aggressive soft-tissue malignancy, notorious for its metastasis to other tissues. A considerable number of cases in the head and neck have been reported but not in the hypopharynx. We describe a 31-year-old man with an incidental finding of a hypopharyngeal mass. Flexible laryngoscopy revealed a fleshy mass 2 × 2 cm2 originating from the left hypopharynx and overlying the epiglottis. Computed tomography scan demonstrated a soft tissue mass in the left wall of the oropharynx measuring about 2.2 × 1.8 cm2, projecting into the hypopharyngeal air space. Magnetic resonance imaging showed a significant thickening of the left hypopharyngeal wall forming a mass lesion occupying the left pyriform sinus and abutting the left aryepiglottic fold. Histopathology indicated that tumor cells were polygonal and epithelioid, with abundant eosinophilic to clear flocculent cytoplasm, eccentric nuclei, and prominent nucleoli. The tumor was positive for smooth muscle actin with rare cells staining for Human Melanoma Black (HMB45). Fluorescence in situ hybridization for transcription factor E3 was also performed and supported the above diagnosis. Our study reports the first case of ASPS in the hypopharynx.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  3. Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, et al.
    Front Immunol, 2018;9:3146.
    PMID: 30697212 DOI: 10.3389/fimmu.2018.03146
    Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait National Primary Immunodeficiency Disorders Registry. Genomic DNA from patients with clinical and immunological features of PID was sequenced using Sanger sequencing (SS), next generation sequencing (NGS) of targeted genes, whole exome sequencing (WES), and/or whole genome sequencing (WGS). Functional assays were utilized to assess the biologic effect of identified variants. Fluorescence in situ hybridization (FISH) for 22q11.2 deletion and genomic hybridizations arrays were performed when thymic defects were suspected. Results: A total of 264 patients were registered during the study period with predominance of patients with immunodeficiencies affecting cellular and humoral immunity (35.2%), followed by combined immunodeficiencies with associated syndromic features (24%). Parental consanguinity and family history suggestive of PID were reported in 213 (81%) and 145 patients (55%), respectively. Genetic testing of 206 patients resulted in a diagnostic yield of 70%. Mutations were identified in 46 different genes and more than 90% of the reported genetic defects were transmitted by in an autosomal recessive pattern. The majority of the mutations were missense mutations (57%) followed by deletions and frame shift mutations. Five novel disease-causing genes were discovered. Conclusions: Genetic testing should be an integral part in the management of primary immunodeficiency patients. This will help the delivery of precision medicine and facilitate proper genetic counseling. Studying inbred populations using sophisticated diagnostic methods can allow better understanding of the genetics of primary immunodeficiency disorders.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  4. Amri MF, Abdullah A, Azmi MI, Mohd Zaki F, Md Pauzi SH
    Malays J Pathol, 2021 Aug;43(2):319-325.
    PMID: 34448796
    BACKGROUND: Ewing sarcoma (ES) is an aggressive tumour which is typically skeletal in origin. ES involving the head and neck region is uncommon and can be easily confused with other small round blue cell tumours. We herein present a rare case of ES involving the sinonasal area.

    CASE PRESENTATION: A 5-year-old Somalian boy with no known medical illness presented with progressive nasal blockage associated with clear nasal discharge and intermittent spontaneous epistaxis for three months. CT paranasal sinus and neck region revealed poorly enhancing expansile mass in the right maxillary sinus with areas of necrosis within. Initial radiological differential diagnoses were lymphoma and rhabdomyosarcoma. The mass was biopsied and histologically showed diffuse sheets of small round blue cells that was positive to CD99, NSE and vimentin. The muscle and lymphoid markers were negative. Fluorescence in-situ hybridisation (FISH) study revealed the presence of EWSR1 gene rearrangement thus diagnosis of ES was rendered.

    CONCLUSIONS: ES of sinonasal tract is a rare entity and its pathological features significantly overlap with others small round blue cells tumour. Demonstration of EWSR1 gene translocation is recommended for the diagnosis of ES particularly at uncommon sites.

    Matched MeSH terms: In Situ Hybridization, Fluorescence
  5. Ankathil R, Ismail SM, Mohd Yunus N, Sulong S, Husin A, Abdullah AD, et al.
    Malays J Pathol, 2020 Dec;42(3):307-321.
    PMID: 33361712
    Chronic myeloid leukaemia (CML) provides an illustrative disease model for both molecular pathogenesis of cancer and rational drug therapy. Imatinib mesylate (IM), a BCR-ABL1 targeted tyrosine kinase inhibitor (TKI) drug, is the first line gold standard drug for CML treatment. Conventional cytogenetic analysis (CCA) can identify the standard and variant Philadelphia (Ph) chromosome, and any additional complex chromosome abnormalities at diagnosis as well as during treatment course. Fluorescence in situ hybridization (FISH) is especially important for cells of CML patients with inadequate or inferior quality metaphases or those with variant Ph translocations. CCA in conjunction with FISH can serve as powerful tools in all phases of CML including the diagnosis, prognosis, risk stratification and monitoring of cytogenetic responses to treatment. Molecular techniques such as reverse transcriptase-polymerase chain reaction (RT-PCR) is used for the detection of BCR-ABL1 transcripts at diagnosis whereas quantitative reverse transcriptase-polymerase chain reaction (qRTPCR) is used at the time of diagnosis as well as during TKI therapy for the quantitation of BCR-ABL1 transcripts to evaluate the molecular response and minimal residual disease (MRD). Despite the excellent treatment results obtained after the introduction of TKI drugs, especially Imatinib mesylate (IM), resistance to TKIs develops in approximately 35% - 40% of CML patients on TKI therapy. Since point mutations in BCR-ABL1 are a common cause of IM resistance, mutation analysis is important in IM resistant patients. Mutations are reliably detected by nested PCR amplification of the translocated ABL1 kinase domain followed by direct sequencing of the entire amplified kinase domain. The objective of this review is to highlight the importance of regular and timely CCA, FISH analysis and molecular testing in the diagnosis, prognosis, assessment of therapeutic efficacy, evaluation of MRD and in the detection of BCR-ABL1 kinase mutations which cause therapeutic resistance in adult CML patients.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  6. Awasthi R, Singh AK, Mishra G, Maurya A, Chellappan DK, Gupta G, et al.
    Adv Exp Med Biol, 2018 9 28;1087:3-14.
    PMID: 30259353 DOI: 10.1007/978-981-13-1426-1_1
    Circular RNAs (cirRNAs) are long, noncoding endogenous RNA molecules and covalently closed continuous loop without 5'-3' polarity and polyadenylated tail which are largely concentrated in the nucleus. CirRNA regulates gene expression by modulating microRNAs and functions as potential biomarker. CirRNAs can translate in vivo to link between their expression and disease. They are resistant to RNA exonuclease and can convert to the linear RNA by microRNA which can then act as competitor to endogenous RNA. This chapter summarizes the evolutionary conservation and expression of cirRNAs, their identification, highlighting various computational approaches on cirRNA, and translation with a focus on the breakthroughs and the challenges in this new field.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  7. Chen SW, Chang ST, Hsieh YC, Kuo CC, Wu HC, Feng YH, et al.
    Malays J Pathol, 2020 Aug;42(2):237-243.
    PMID: 32860376
    INTRODUCTION: Follicular lymphoma (FL) is usually a nodal lymphoma expressing CD10, rarely with leukaemic presentation (FL-LP).

    MATERIALS AND METHODS: We searched for FL-LP in our institution from 2000 to 2018 and characterised the neoplastic cells by flow cytometry, immunohistochemistry and fluorescence in situ hybridization. Thirteen (6.1%) of 212 FL cases were FL-LP, all de novo neoplasms. The leukaemic cells were small in 12 cases and large in one. All had concurrent FL, mostly (92%; 12/13) low-grade. The single case with large leukaemic cells had a concurrent primary splenic low-grade FL and a double-hit large B-cell lymphoma in the marrow.

    RESULTS: CD10 was expressed in the leukaemic cells in 38% (5/13) cases by flow cytometry and in 77% (10/13) cases in tumours (p= 0.0471). IGH/BCL2 reciprocal translocation was identified in 85% (11/13) cases. Most patients were treated with chemotherapy. In a median follow-up time of 36 months, nine patients were in complete remission. The 2- and 5-year survival rates were at 100% and 83%, respectively. In this study, we characterised a series of de novo FL-LP in Taiwan. All patients had concurrent nodal and/or tissue tumours, which might suggest that these patients seek medical help too late.

    CONCLUSION: The lower CD10 expression rate by flow cytometry than by immunohistochemistry might be due to different epitopes for these assays. Alternatively, loss of CD10 expression might play a role in the pathogenesis of leukaemic change. The clinical course of FL-LP could be aggressive, but a significant proportion of the patients obtained complete remission with chemotherapy.

    Matched MeSH terms: In Situ Hybridization, Fluorescence
  8. Chia WK, Sharifah NA, Reena RM, Zubaidah Z, Clarence-Ko CH, Rohaizak M, et al.
    Cancer Genet. Cytogenet., 2010 Jan 1;196(1):7-13.
    PMID: 19963130 DOI: 10.1016/j.cancergencyto.2009.08.001
    At the present time, the differentiation between follicular thyroid carcinoma (FTC) and adenoma can be made only postoperatively and is based on the presence of capsular or vascular invasion. The ability to differentiate preoperatively between the malignant and benign forms of follicular thyroid tumors assumes greater importance in any clinical setting. The PAX8-PPARG translocation has been reported to occur in the majority of FTC. In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization. The PAX8-PPARG translocation was detected in 2/18 FTC (11.1%). In addition, 2/18 (11.1%) FTC and 1/5 (20%) HCA showed 3p25 aneusomy only. The frequency of the translocation detected in the study was lower compared to the earlier studies conducted in Western countries. This might be attributed to the ethnic background and geographic location. Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events. It is hereby concluded that 3p25 aneusomy or PAX8-PPARG translocation may play an important role in the molecular pathogenesis of follicular thyroid tumors.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  9. Chia, W.K., Zubaidah, Z., Reena Rahayu Md Zin, Rohaizak, M., Asmiati, A., Rafie, M.K., et al.
    Medicine & Health, 2012;7(1):47-56.
    MyJurnal
    Aneusomy is an early genetic event and a characteristic feature of many solid tumors. It is often associated with poor prognosis in cancer patients. The involvement of PAX8-PPARγ rearrangement in tumorigenesis of follicular thyroid lesions has been widely assessed. However, there were few reports on aneusomy of the PPARγ gene at the 3p25 locus in follicular thyroid lesions. It remains undetermined whether these abnormalities can be translated into improved diagnosis, classification, or outcome prediction. Herein, we report three cases of follicular thyroid neoplasms [two follicular thyroid carcinomas (FTCs) and one Hurthle cell adenoma (HCA)] with 3p25 aneusomy detected by fluorescence in situ hybridization (FISH). 3p25 trisomy was observed in one FTC and one HCA while 3p25 tetrasomy was observed in one FTC. Furthermore, all three lesions did not show overexpression of PPARγ protein. Hurthle cell neoplasms (HCN) are distinct clinically and histologically from other follicular thyroid neoplasms (FTN). However, the presence of the aneusomy in HCA and FTC indicates that there could be a biological continuum between the two and chromosomal gains might play an important role in the pathogenesis of these two types of neoplasms. Despite their differences, HCN and FTN may share the same early genetic event in tumour development.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  10. Chiam CW, Sam IC, Chan YF, Wong KT, Ong KC
    Methods Mol Biol, 2016;1426:235-40.
    PMID: 27233276 DOI: 10.1007/978-1-4939-3618-2_21
    Immunohistochemistry is a histological technique that allows detection of one or more proteins of interest within a cell using specific antibody binding, followed by microscopic visualization of a chromogenic substrate catalyzed by peroxidase and/or alkaline phosphatase. Here, we describe a method to localize Chikungunya virus (CHIKV) antigens in formalin-fixed and paraffin-embedded infected mouse brain.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  11. Chin SF, Hamid NA, Latiff AA, Zakaria Z, Mazlan M, Yusof YA, et al.
    Nutrition, 2008 Jan;24(1):1-10.
    PMID: 17884341
    The free radical theory of aging (FRTA) suggests that free radicals are the leading cause of deteriorating physiologic function during senescence. Free radicals attack cellular structures or molecules such as DNA resulting in various modifications to the DNA structures. Accumulation of unrepaired DNA contributes to a variety of disorders associated with the aging process.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  12. Eusni, R.M.T., Leong, C.F., Salwa, S.
    MyJurnal
    We reported a young patient with myelodysplastic syndrome (MDS) with eosinophilia, in which her chromosomal analysis revealed the presence of trisomy X and a marker chromosome at chromosome 11. The technique used to detect the chromosomal abnormalities is a multicoloured –fluorescent in situ hybridization technique (M-FISH). Our observation suggested that these underlying chromosomal abnormalities were probably responsible for her development of MDS with eosinophilia.
    Myelodysplastic syndrome (MDS) is a condition whereby there is ineffective production of haematopoietic stem cells and poor quality of cells produced. The cause can either be a primary bone marrow problem, de novo or therapy related. Most MDS cases are secondary rather than primary. Many chromosomal abnormalities have been found in cases of myelodysplastic syndrome. We described a case of MDS with eosinophilia in association with presence of trisomy X and a marker chromosome in chromosome 11.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  13. Gagliano MC, Ismail SB, Stams AJM, Plugge CM, Temmink H, Van Lier JB
    Water Res, 2017 09 15;121:61-71.
    PMID: 28511041 DOI: 10.1016/j.watres.2017.05.016
    For the anaerobic biological treatment of saline wastewater, Anaerobic Digestion (AD) is currently a possibility, even though elevated salt concentrations can be a major obstacle. Anaerobic consortia and especially methanogenic archaea are very sensitive to fluctuations in salinity. When working with Upflow Sludge Blanket Reactor (UASB) technology, in which the microorganisms are aggregated and retained in the system as a granular biofilm, high sodium concentration negatively affects aggregation and consequently process performances. In this research, we analysed the structure of the biofilm and granules formed during the anaerobic treatment of high salinity (at 10 and 20 g/L of sodium) synthetic wastewater at lab scale. The acclimated inoculum was able to accomplish high rates of organics removal at all the salinity levels tested. 16S rRNA gene clonal analysis and Fluorescence In Situ Hybridization (FISH) analyses identified the acetoclastic Methanosaeta harundinacea as the key player involved acetate degradation and microbial attachment/granulation. When additional calcium (1 g/L) was added to overcome the negative effect of sodium on microbial aggregation, during the biofilm formation process microbial attachment and acetate degradation decreased. The same result was observed on granules formation: while calcium had a positive effect on granules strength when added to UASB reactors, Methanosaeta filaments were not present and the degradation of the partially acidified substrate was negatively influenced. This research demonstrated the possibility to get granulation at high salinity, bringing to the forefront the importance of a selection towards Methanosaeta cells growing in filamentous form to obtain strong and healthy granules.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  14. Goh TC, Bajuri MY, Yusof MF, Mohd Apandi H, Sarifulnizam FA
    Cureus, 2021 Mar 03;13(3):e13664.
    PMID: 33824815 DOI: 10.7759/cureus.13664
    We report the case of a 14-year-old girl who presented with a one-month history of back pain and bilateral lower limb weakness preceded by constitutional symptoms. She neither had a family history of malignancy nor a previous history of trauma. A series of imaging procedures revealed an aggressive lesion of the T12 vertebra with a large soft-tissue component and intraspinal extension leading to spinal cord compression causing cord edema. She underwent urgent posterior instrumentation and fixation of T9 to T12 vertebrae due to worsening neurological deficits. Adjuvant and neoadjuvant chemotherapy with palliative spinal stabilisation were also performed. Features of the lesion were highly consistent with ES on immunohistochemical study and fluorescence in situ hybridization (FISH) analysis for the EWSR1 gene. Postoperatively, both of her lower limbs improved in power and she benefited from regular physiotherapy.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  15. Hagen RM, Adamo P, Karamat S, Oxley J, Aning JJ, Gillatt D, et al.
    Am J Clin Pathol, 2014 Oct;142(4):533-40.
    PMID: 25239421 DOI: 10.1309/AJCPH88QHXARISUP
    The proto-oncogene ETS-related gene (ERG) is consistently overexpressed in prostate cancer. Alternatively spliced isoforms of ERG have variable biological activities; inclusion of exon 11 (72 base pairs [bp]) is associated with aggressiveness and progression of disease. Exon 10 (81 bp) has also been shown to be alternatively spliced. Within this study, we assess whether ERG protein, messenger RNA (mRNA), and ERG splice isoform mRNA expression is altered as prostate cancer progresses.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  16. Heah KG, Hassan MI, Huat SC
    Asian Pac J Cancer Prev, 2011;12(4):1017-22.
    PMID: 21790244
    INTRODUCTION: Oral squamous cell carcinoma (OSCC) has high local recurrence, partly caused by the lack of clear margin identification on surgical removal of cancerous tissues. Direct visualization by immunostaining and fluorescent in situ hybridization (FISH) in tissue sections gives more definite information about genetic damage at margins with appropriately selected biomarkers.

    AIMS: To determine the usefulness of immunohistochemical techniques and FISH of the tumour suppressor TP 53 gene to identify microinvasion in marginal tissue sections and to relate the possible correlation between protein expression and genetic aberrations in OSCC cases in Malaysia.

    METHODS: Immunohistochemistry and FISH of TP 53 genes were applied on 26 OSCC formalin fixed paraffin embed (FFEP) blocks selected from two oral cancer referral centers in Malaysia.

    RESULTS: For p53 protein immunohistochemistry, 96% of the 26 OSCC studied showed positive immunostaining at the excision margins. In FISH assay, 48.9±9.7% of the cancerous cells were monoploid for p53 probe signals, 41.0±9.5 % were diploid, and 10.2±7.8 % were polyploid. A correlation between p53 immunostaining and TP53 gene aberrations was noted (p< 0.05).

    CONCLUSIONS: Immunohistochemical analysis of p53 protein expression and FISH of TP53 gene could be applied as screening tool for microinvasion of OSCC.

    Matched MeSH terms: In Situ Hybridization, Fluorescence/methods
  17. Ho CC, Tan WP, Pathmanathan R, Tan WK, Tan HM
    Asian Pac J Cancer Prev, 2013;14(7):4057-9.
    PMID: 23991952
    BACKGROUND: Fluorescence in situ hybridization (FISH) testing may be useful to screen for bladder carcinoma or dysplasia by detecting aneuploidy chromosomes 3, 7, 17 and deletion of the chromosome 9p21 locus in urine specimens. This study aimed to assess the sensitivity, specificity, positive and negative predictive value of FISH in a multi-ethnic population in Asia.

    MATERIALS AND METHODS: Patients with haematuria and/or past history of urothelial cancer on follow-up had their voided urine tested with FISH. Patients then underwent cystoscopy/ ureteroscopy and any lesions seen were biopsied. The histopathological reports of the bladder or ureteroscopic mucosal biopsies were then compared with the FISH test results.

    RESULTS: Two hundred sixty patients were recruited. The sensitivity and specificity of the FISH test was 89.2% and 83.4% respectively. The positive (PPV) and negative predictive values (NPV) were 47.1% and 97.9%. By excluding patients who had positive deletion of chromosome 9, the overall results of the screening test improved: sensitivity 84.6%; specificity 96.4%; PPV 75.9% and NPV 97.9%.

    CONCLUSIONS: UroVysion FISH has a high specificity of detecting urothelial cancer or dysplasia when deletion of chromosome 9 is excluded. Negative UroVysion FISH-tests may allow us to conserve health resources and minimize trauma by deferring cystoscopic or ureteroscopic examination.

    Matched MeSH terms: In Situ Hybridization, Fluorescence/methods*
  18. Isiaku AI, Sabri MY, Ina-Salwany MY, Hassan MD, Tanko PN, Bello MB
    Microb Pathog, 2017 Jan;102:59-68.
    PMID: 27890651 DOI: 10.1016/j.micpath.2016.10.029
    Biofilms are aggregates of attached microbial organisms whose existence on tissues is often recognised as a mechanism for the establishment of most chronic diseases. Herein we investigated the ability of piscine Streptococcus agalactiae, an important aquatic pathogen, for adaptation to this sessile lifestyle in vitro and in the brain of a tilapia fish model. Piscine S. agalactiae exhibited a weak attachment to polystyrene plates and expressed a low biofilm phenotype under the study conditions. Furthermore, fluorescent in situ hybridization and confocal laser scanning microscopy revealed discrete aggregates of attached S. agalactiae within brain tissues and around meningeal surfaces. They were embedded in an exopolysaccharide containing matrix, intractable to inflammatory response and showed some level of resistance to penicillin despite proven susceptibility on sensitivity test. Intracellular bacterial aggregates were also observed, moreover, antibody mediated response was not demonstrated during infection. Nucleated erythrocytes appear to facilitate brain invasion possibly via the Trojan horse mechanism leading to a granulomatous inflammation. We have demonstrated that biofilm is associated with persistence of S. agalactiae and the development of chronic meningoencephalitis in fish.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  19. Kim LH, Peh SC, Poppema S
    Hum Pathol, 2006 Jan;37(1):92-100.
    PMID: 16360421
    Deregulation of several genes involved in cell cycle control has been reported in classic Hodgkin lymphoma (cHL). This study aimed to investigate the expression of tumor suppressor proteins (P16(INK4A), retinoblastoma protein, and p53) in cHL in relation to the proliferation and apoptosis of Hodgkin/Reed-Sternberg (H/RS) cells, correlating with the status of Epstein-Barr virus (EBV). A total of 66 cHL cases and 10 nonneoplastic reactive lymphoid tissues were retrieved from the archives. Immunohistochemistry technique was used for the detection of protein expression. Presence of EBV infection was detected by EBV early RNA in situ hybridization. p16(INK4A) gene deletion status was assessed by fluorescence in situ hybridization technique. Expression of P16(INK4A) was observed in 49.2% of the cases, whereas positive retinoblastoma protein and p53 expressions in the H/RS cells were detected in 89.1% and 81.5% of the cases, respectively. Epstein-Barr virus positivity was detected in 53.0% of the cases. Proliferation marker, Ki-67 expression, was observed in 86.7% of the cases. There was no significant correlation between the expression of the various tumor suppressor proteins and Ki-67. Retinoblastoma protein and p53 were also not associated with the presence of EBV. An inverse relationship was observed between the expression of P16(INK4A) and the presence of EBV. There were no significant homozygous or hemizygous deletions of the p16(INK4A) gene. However, an aberrant copy number of chromosome 9 with the loss of one or more p16(INK4A) loci was detected in all cases assessable by fluorescence in situ hybridization. Loss of function of one or more tumor suppressor proteins may be involved in defective cell regulation of H/RS cells. Epstein-Barr virus may have a role in inhibiting P16(INK4A) expression, thus resulting in a perturbed p16(INK4A)-Rb cell cycle checkpoint.
    Matched MeSH terms: In Situ Hybridization, Fluorescence
  20. Kong PL, Cheah PL, Mun KS, Chiew SF, Lau TP, Koh CC, et al.
    Malays J Pathol, 2020 Dec;42(3):369-376.
    PMID: 33361717
    Together with isocitrate dehydrogenase (IDH) mutation, co-deletion of 1p19q (1p19q codel) is a prerequisite for diagnosis of oligodendroglioma, making it imperative that histopathology laboratories introduce testing for 1p19q codel. To date there is still no consensus reference range and cut-offs that confirm deletion of 1p or 19q. We embarked on determining our reference range in 11 formalinfixed, paraffin-embedded non-neoplastic brain tissue using fluorescence in situ hybridisation (FISH) with the Vysis 1p36/1q25 and 19q13/19p13 FISH Probe Kit (Abbott Molecular Inc., USA). At same time we attempted to validate our methodology in 13 histologically-confirmed IDH-mutant oligodendrogliomas. For 1p, percentage cells with deletion (range=8-23%; mean±SD = 15.73±5.50%) and target: control (1p36:1q25) ratio (range = 0.89-0.96; mean±SD = 0.92±0.03) in non-neoplastic brain, differed significantly (p<0.000) from oligodendroglioma (percentage cells with deletion: range = 49-100%; mean±SD = 82.46±15.21%; target:control ratio range:0.50-0.76; mean±SD = 0.59±0.08). For 19q, percentage cells with deletion (range = 7-20%; mean±SD = 12.00±3.49%) and target:control (19q13/19p13) ratio (range:0.90-0.97; mean±SD = 0.94±0.02) in non-neoplastic brain also differed significantly from oligodendroglioma (percentage cells with deletion: range = 45-100%; mean±SD = 82.62±18.13%; target:control ratio range:0.50-0.78; mean±SD = 0.59±0.09). Using recommended calculation method, for diagnosis of 1p deletion, percentage of cells showing deletion should be >32-33% and/or target:control ratio <0.83. For 19q, percentage of cells showing deletion should be >22% and target:control ratio <0.88. Using these cut-offs all 13 oligodendroglioma demonstrated 1p19q codel.
    Matched MeSH terms: In Situ Hybridization, Fluorescence*
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