Fluorescence in situ hybridisation analysis of bone marrow trephine biopsy specimens; an additional tool in the diagnostic armoury

2012 ◽  
Vol 66 (1) ◽  
pp. 54-57 ◽  
Author(s):  
Michael J Neat ◽  
Mufaddal T Moonim ◽  
Robert G Dunn ◽  
Helen Geoghegan ◽  
Nicola J Foot
Keyword(s):  
In Situ Hybridisation ◽  
Fish Analysis ◽  
Fluorescence In Situ Hybridisation ◽  
Trephine Biopsy ◽  
Additional Tool ◽  
Bone Marrow Trephine Biopsy ◽  
Biopsy Specimens ◽  
Wide Range ◽  
Formalin Fixed Paraffin Embedded

Fluorescence in situ hybridisation (FISH) analysis is now widely employed in the diagnosis and risk stratification of a wide range of malignant diseases. While this technique is used successfully with formalin-fixed paraffin-embedded (FFPE) sections from numerous tissue types, FISH analysis of FFPE tissue sections from trephine biopsy specimens has been less widely reported, possibly due to technical limitations relating to the decalcification protocols employed. During the last 4 years FISH analysis has been carried out successfully in 42 out of 55 (76%) consecutive trephine biopsy specimens received as part of the standard diagnostic service at our institution. Samples decalcified using EDTA-based protocols were analysed successfully in 31/31 cases (100%), whereas only 11/24 samples (46%) decalcified using formic acid-based protocols were successful. In our experience, FISH analysis of trephine biopsy specimens is a highly reproducible technique and a very useful adjunctive tool in the diagnostic armoury; however, its use in a standard diagnostic setting relies on the use of EDTA-based decalcification protocols.

scholarly journals An assessment of chromosomal alterations detected by fluorescence in situ hybridisation in pancreatobiliary tract malignancy

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xiaohong Pu ◽  
Hongwei Zheng ◽  
Xin Yang ◽  
Qing Ye ◽  
Zhiwen Fan ◽  
...  
Keyword(s):  
Predictive Value ◽  
In Situ Hybridisation ◽  
False Negative ◽  
Chinese Patients ◽  
Fluorescence In Situ Hybridisation ◽  
Predictive Values ◽  
Formalin Fixed Paraffin Embedded ◽  
9P21 Locus ◽  
Sensitivity Specificity

Abstract Background Using fluorescence in situ hybridisation (FISH) to detect any gain of chromosomes 3, 7, or 17 and loss of the 9p21 locus has been proven to be sensitive in the diagnosis of pancreatobiliary tumors. However, both genetic and environmental factors contribute to the pathogenesis of pancreatobiliary tumors. Therefore, it is unknown whether this method is suitable for Chinese patients with pancreatobiliary tumors. This study aims to compare the sensitivity, specificity, predictive values and accuracy of cytology, ERCP/MRCP and FISH based on Chinese patients with pancreatobiliary tumors,and to analyze differences between brushing-based and formalin-fixed paraffin-embedded (FFPE)-based FISH. Methods A total of 66 brush cytology specimens obtained during ERCP were detected by FISH and cytology test respectively to compare the sensitivity, specificity, predictive values and accuracy. Besides, FFPE-based FISH was performed on 46 corresponding paraffin sections of pancreatobiliary tumors obtained by surgical resection. Results Our findings demonstrate that FISH greatly improves diagnostic sensitivity and negative predictive value compared to ERCP/MRCP and cytology without much reduction in specificity and positive predictive value. However, our results also indicate that FFPE-based FISH could not effectively identify the false-negative of brushing-based FISH. Conclusions We believe that FISH can effectively distinguish true positive and false positive results of cytological or radiological suspicions of malignancy. However, FFPE-based FISH still does not precisely recognize the false-negative of brushing-based FISH. Both cytology-based and PPFE-based FISH had limitation in some specimens.

Comparison of genomic abnormality in malignant mesothelioma by the site of origin

2014 ◽  
Vol 67 (12) ◽  
pp. 1038-1043 ◽  
Author(s):  
Maiko Takeda ◽  
Takahiko Kasai ◽  
Yasunori Enomoto ◽  
Masato Takano ◽  
Kohei Morita ◽  
...  
Keyword(s):  
Malignant Mesothelioma ◽  
In Situ Hybridisation ◽  
Homozygous Deletion ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Fluorescence In Situ Hybridisation ◽  
Hybridisation Analysis ◽  
Genetic Events

AimsMalignant mesothelioma (MM) results from the accumulation of a number of acquired genetic events at the onset. In MM, the most frequent changes are losses in 9p21, 1p36, 22q12 and 14q32, and gains in 5p, 7p and 8q24 by comparative genomic hybridisation analysis. We have examined various genomic losses and gains in MM and benign mesothelial proliferation by fluorescence in situ hybridisation (FISH) analysis. 9p21 deletion was reported to be less frequent in peritoneal than in pleural MMs. This study analysed various genomic losses and gains in MM by the site of origin using FISH analysis.Materials and methodsWe performed FISH analysis using paraffin-embedded tissues from 54 cases (40 pleural and 14 peritoneal) of MMs and compared the frequency of genomic abnormality by the site of origin.Results9p21 deletion was shown in 34 of 40 cases (85%) of pleural MMs, and was less frequent in five of 14 cases (36%) of peritoneal MMs (p<0.001) by FISH analysis. By contrast, 5p15 and 7p12 amplification was more significantly frequent in peritoneal than in pleural MMs. No difference between the two sites of MM in other genes was found.Conclusions9p21 homozygous deletion assessed by FISH has been reported to be useful for differentiating MM from reactive mesothelial proliferation, but it should be noted that 9p21 deletion was less frequent in peritoneal MM. Our study suggests that the pathway of the genetic abnormality might vary between pleural and peritoneal MM.

Primary cutaneous Ewing sarcoma/primitive neuroectodermal tumour: a clinicopathological analysis of seven cases highlighting diagnostic pitfalls and the role of FISH testing in diagnosis

2009 ◽  
Vol 62 (10) ◽  
pp. 915-919 ◽  
Author(s):  
M V Shingde ◽  
M Buckland ◽  
K J Busam ◽  
S W McCarthy ◽  
J Wilmott ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
In Situ Hybridisation ◽  
Molecular Testing ◽  
Fish Analysis ◽  
Fluorescence In Situ Hybridisation ◽  
Clinicopathological Analysis ◽  
Blue Cell

Aims:To perform a clinicopathological analysis of a series of primary cutaneous Ewing sarcomas/primitive neuroectodermal tumours (ES/PNET) to highlight the pathological features, discuss the differential diagnosis, emphasise the role of molecular testing (particularly fluorescence in situ hybridisation, FISH) in diagnosis and outline the patients’ clinical course.Methods:Seven cases of primary cutaneous ES/PNET were identified from the authors’ consultation files.Results:The patients were aged 16–61 years (median 25). Five were female and two were male. Five cases involved the limbs and two the trunk. Five were initially misdiagnosed (three as carcinoma and two as melanoma). All cases were characterised histologically by sheet-like growth of small round cells with little cytoplasm and showed strong membranous staining for CD99 and positive but variable staining for FLI-1. Six patients showed an EWS rearrangement (five on FISH analysis and one on RT-PCR). All tumours were completely excised. Three patients received adjuvant chemotherapy, one of whom also received radiotherapy. Follow-up was available in all cases (range 11–57 months; median 41). No recurrences or metastases occurred.Conclusions:Although rare, primary cutaneous ES/PNET should be considered in the differential diagnosis of cutaneous “small blue cell tumours”. Immunostaining for FLI-1 and molecular testing for evidence of an EWS rearrangement are useful ancillary investigations to confirm the diagnosis. The prognosis of primary cutaneous ES/PNET appears to be more favourable than extracutaneous ES/PNET.

Cytogenetic and fluorescence in situ hybridisation (FISH) analysis of ocular melanoma

1994 ◽  
Vol 77 (2) ◽  
pp. 182
Author(s):  
Geoffrey C. Beverstockl ◽  
Martine de Jager ◽  
Ite de Waard-Siebinga ◽  
Jeanette Kool ◽  
Paul Mollevanger ◽  
...  
Keyword(s):  
In Situ Hybridisation ◽  
Ocular Melanoma ◽  
Fish Analysis ◽  
Fluorescence In Situ Hybridisation

Gains of chromosomes 7 and 17 in tubulocystic carcinoma of kidney: two cases with fluorescence in situ hybridisation analysis

2014 ◽  
Vol 67 (11) ◽  
pp. 1006-1009 ◽  
Author(s):  
Ni Chen ◽  
Ling Nie ◽  
Jing Gong ◽  
Xueqin Chen ◽  
Miao Xu ◽  
...  
Keyword(s):  
Renal Cell ◽  
Collecting Duct ◽  
In Situ Hybridisation ◽  
Fish Analysis ◽  
Low Grade ◽  
Fluorescence In Situ Hybridisation ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma ◽  
Tubulocystic Carcinoma

Tubulocystic carcinoma (TCC) is a very rare renal tumour with unique gross and microscopic features, alternatively considered as low-grade collecting duct carcinoma. Recent studies favoured distinction of TCC from collecting duct carcinoma, and some cases of TCC synchronously coexisting with other renal cell tumour subtypes were described. We report here two new cases of pure (case 1) or mixed (case 2) TCC with fluorescence in situ hybridisation (FISH) analysis, which showed gains of chromosomes 7 and 17 in the pure TCC of case 1, as well as in the TCC and the papillary renal cell carcinoma (PRCC) components in case 2. These data may further support the notion that TCC is more closely related to PRCC.

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