Detection of EGFR mutational profile by direct dideoxy sequencing in cytology and non-cytology biopsy samples

Leslie, Connull; Giardina, Tindaro; Carrello, Amerigo; Spagnolo, Dominic V.; Amanuel, Benhur

doi:10.1097/pat.0000000000000093

Cited by 6 publications

(16 citation statements)

References 27 publications

(38 reference statements)

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“…). In total, 4999 samples were analyzed for EGFR mutation from all articles (Table ), and information on the number of enrolled patients was available for 19 studies . In 1 of these studies, information was available for all enrolled patients, including those who had histologic samples .…”

Section: Resultsmentioning

confidence: 99%

“…In 3 studies, information on the number of patients was not available. Eleven studies included only cytologic samples, and 11 also reported the results from surgical/core‐needle biopsy specimens . The oldest study with more than 100 specimens was published in 2007, and the most recent series retrieved were published online in 2014 .…”

Section: Resultsmentioning

confidence: 99%

“…Several sampling methods and types of cytologic specimens have been reported. The 2 most frequent specimen types were fine‐needle aspirations (FNAs) (17 of 22 studies) and pleural fluids (11 of 22 studies) . In the vast majority of studies, FNAs of the lung were performed using computerized tomography guidance, although other sites, such as liver, bone, and lymph nodes, also have been described.…”

Section: Resultsmentioning

confidence: 99%

“…The most commonly reported fixatives were formalin, ethanol, and CytoLyt (Cytyc Corp, Boxborough, Mass) . In 7 articles (7 of 22 studies), information about the fixative used was not available .…”

Section: Resultsmentioning

confidence: 99%

“…Various PCR‐based techniques were used for EGFR mutation analysis, and this information was available for all studies. PCR followed by direct sequencing was the method of choice in 7 studies (31.8%) . Real‐time PCR was used as the main method in 2 studies (9.1%): 1 study used real‐time PCR combining amplification‐refractory mutation system (ARMS) and a bi‐loop probe protocol, with some mutated samples confirmed by direct sequencing; and the other study also used real‐time PCR and ARMS, this time combined with scorpion chemistry .…”

Section: Resultsmentioning

confidence: 99%

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Preanalytic parameters in epidermal growth factor receptor mutation testing for non–small cell lung carcinoma: A review of cytologic series

Santos

Saieg²

2015

Cancer Cytopathology

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The results from molecular assays can be affected significantly by the preanalytic condition of cytologic samples. The authors review current knowledge on the use of cytologic samples for epidermal growth factor receptor (EGFR) mutation testing in non–small cell lung cancer with a focus on preanalytic parameters. A systematic electronic search of the MEDLINE database was performed to identify original articles that reported the use of cytologic samples for EGFR molecular analysis and included a minimum of 100 samples. The information collected included author(s), journal, and year of publication; number of patients and samples; sampling method; type of preparation; type of fixative; staining techniques; mutation analysis techniques; tumor cellularity; the percentage of tumor cells; data on DNA quantity, quality, and concentration; failed assays; and the mutation rate. EGFR mutation analysis was conducted on 4999 cytologic samples from 22 studies that fulfilled the inclusion criteria. Fine‐needle aspirates and pleural effusions were the most common types of specimens used. DNA was mainly extracted from cell blocks and smears, and the most commonly reported fixatives included formalin, ethanol, and CytoLyt. Cellularity assessments and DNA yields were available from 5 studies each. The average success rate for the assays that used cytologic specimens was 95.87% (range, 85.2%‐100%). The mutation rate ranged from 6% to 50.46%, and a higher mutation detection rate and lower numbers of insufficient cases were reported for pleural effusions and lymph node samples from endobronchial ultrasound‐guided transbronchial needle aspiration compared with histologic specimens. Low cellularity and a low percentage of tumor cells were associated with higher test failure rates. Future guidelines should consider the current data for specific recommendations regarding cytologic samples. Cancer (Cancer Cytopathol) 2015;123:633–643. © 2015 American Cancer Society.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Preanalytic parameters in epidermal growth factor receptor mutation testing for non–small cell lung carcinoma: A review of cytologic series

Santos

Saieg²

2015

Cancer Cytopathology

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Comparison of Epidermal Growth Factor Receptor Gene Mutations Identified Using Pleural Effusion and Primary Tumor Tissue Samples in Non–Small Cell Lung Cancer

Liu

Sun

et al. 2018

Applied Immunohistochemistry &Amp; Molecular Morphology

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The execution of molecular genetic tests using DNA of tumor cells obtained from cytologic preparations

Григорук¹,

Pupkova²,

Базулина³

et al. 2017

Lab. sluzh.

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This article presents the outcomes of implementation of DNA testing in oncology using tumor DNA cells taken from the cytological specimens. DNA attribute of the cytological specimen of 113 patients has been investigated. EGFR gene mutation for the diagnosed pulmonary adenocarcinoma (n=75) has been determined for proper assignment of the target medicines and individual therapy. Mutation has been determined in 10.9% cases. KRAS, BRAF and BRCA1/2 gene mutation has been determined in 38 women suffering from ovarian serous carcinoma. Ovarian low-grade serous carcinoma with KRAS gene mutation has been determined in 71.4 % of the patients. The prognosis for these women is more favourable, as well as for a small portion of the women with BRCA1 gene mutation (14.3 %) from ovarian high-grade serous carcinoma group due to the fact that they are more susceptible to platine medicines. Cytological specimen is valuable material for DNA testing subject to enough number of the tumour cells available.

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Detection of EGFR mutational profile by direct dideoxy sequencing in cytology and non-cytology biopsy samples

Cited by 6 publications

References 27 publications

Preanalytic parameters in epidermal growth factor receptor mutation testing for non–small cell lung carcinoma: A review of cytologic series

Preanalytic parameters in epidermal growth factor receptor mutation testing for non–small cell lung carcinoma: A review of cytologic series

Comparison of Epidermal Growth Factor Receptor Gene Mutations Identified Using Pleural Effusion and Primary Tumor Tissue Samples in Non–Small Cell Lung Cancer

The execution of molecular genetic tests using DNA of tumor cells obtained from cytologic preparations

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