Molecular Testing for EGFR Mutations and ALK Rearrangements in the Cytological Specimens from the Patients with Non-Small Cell Lung Cancer

Xiaoyan Wang, Shaoxiong Chen, Robert Emerson, Howard Wu, Harvey Cramer, Kendra Curless, Hsim Yee Chang, Shaobo Zhang, Melissa L. Randolph, Liang Cheng

Research output: Contribution to journalArticle

Abstract

Objective: The aim of this study was to investigate epidermal growth factor receptor (EGFR) gene mutations and anaplastic lymphoma kinase (ALK) gene rearrangements using cytological specimens from the patients with a diagnosis of primary or metastatic lung non-small cell carcinoma. Materials and Methods: A total 307 cases were submitted for EGFR mutational analysis and 265 cases for ALK analysis. The cytological specimen sources included lung, lymph node, liver, bone, adrenal gland, mesentery mass, and body fluids/bronchial brushing. EGFR mutations in the exons 18 to 21 were analyzed with Qiagen EGFR Pyro Kits. Fluorescence in situ hybridization (FISH) studies for ALK rearrangement inv(2)(p21; p23) were performed on the paraffin-embedded cell block sections utilizing dual-color Vysis LSI ALK Break Apart Probe Kit. Results: Among 307 fine needle aspirate cases for EGFR analysis, 302 cases (269 from cell blocks, 33 from direct smears) had sufficient material for EGFR test. Five cases failed due to inadequate cellularity. Twenty six of 302 (8.6%) cases were positive for EGFR mutations. A total of 265 cases submitted for ALK analysis included 240 cases of fine needle aspirate, 25 cases of pleural fluid/pericardial fluid/bronchial washings. Eight cases failed because of low cellularity, whereas 257 of 265 cases had sufficient material for ALK FISH study. Nine of 257 cases (3.5%) revealed ALK rearrangement by FISH. Conclusions: The current study demonstrates that cytological specimens can yield sufficient material for EGFR mutations and ALK rearrangement test. Our study reveals that 8.6% of EGFR mutation rate and 3.5% of ALK rearrangement rate in the cytology specimens from the patients with primary or metastatic lung non-small cell carcinoma.

Original languageEnglish (US)
JournalApplied Immunohistochemistry and Molecular Morphology
DOIs
StateAccepted/In press - Jan 1 2019

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Epidermal Growth Factor Receptor
Non-Small Cell Lung Carcinoma
Mutation
Fluorescence In Situ Hybridization
Needles
erbB-1 Genes
anaplastic lymphoma kinase
Mesentery
Gene Rearrangement
Body Fluids
Mutation Rate
Adrenal Glands
Paraffin
Cell Biology
Exons
Color
Lymph Nodes
Bone and Bones
Lung
Liver

Keywords

  • anaplastic lymphoma kinase (ALK)
  • cytology
  • epidermal growth factor receptor (EGFR)
  • lung non-small cell carcinoma
  • molecular testing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Medical Laboratory Technology

Cite this

@article{8dbc89055acc454f9db5b8b91dea5207,
title = "Molecular Testing for EGFR Mutations and ALK Rearrangements in the Cytological Specimens from the Patients with Non-Small Cell Lung Cancer",
abstract = "Objective: The aim of this study was to investigate epidermal growth factor receptor (EGFR) gene mutations and anaplastic lymphoma kinase (ALK) gene rearrangements using cytological specimens from the patients with a diagnosis of primary or metastatic lung non-small cell carcinoma. Materials and Methods: A total 307 cases were submitted for EGFR mutational analysis and 265 cases for ALK analysis. The cytological specimen sources included lung, lymph node, liver, bone, adrenal gland, mesentery mass, and body fluids/bronchial brushing. EGFR mutations in the exons 18 to 21 were analyzed with Qiagen EGFR Pyro Kits. Fluorescence in situ hybridization (FISH) studies for ALK rearrangement inv(2)(p21; p23) were performed on the paraffin-embedded cell block sections utilizing dual-color Vysis LSI ALK Break Apart Probe Kit. Results: Among 307 fine needle aspirate cases for EGFR analysis, 302 cases (269 from cell blocks, 33 from direct smears) had sufficient material for EGFR test. Five cases failed due to inadequate cellularity. Twenty six of 302 (8.6{\%}) cases were positive for EGFR mutations. A total of 265 cases submitted for ALK analysis included 240 cases of fine needle aspirate, 25 cases of pleural fluid/pericardial fluid/bronchial washings. Eight cases failed because of low cellularity, whereas 257 of 265 cases had sufficient material for ALK FISH study. Nine of 257 cases (3.5{\%}) revealed ALK rearrangement by FISH. Conclusions: The current study demonstrates that cytological specimens can yield sufficient material for EGFR mutations and ALK rearrangement test. Our study reveals that 8.6{\%} of EGFR mutation rate and 3.5{\%} of ALK rearrangement rate in the cytology specimens from the patients with primary or metastatic lung non-small cell carcinoma.",
keywords = "anaplastic lymphoma kinase (ALK), cytology, epidermal growth factor receptor (EGFR), lung non-small cell carcinoma, molecular testing",
author = "Xiaoyan Wang and Shaoxiong Chen and Robert Emerson and Howard Wu and Harvey Cramer and Kendra Curless and Chang, {Hsim Yee} and Shaobo Zhang and Randolph, {Melissa L.} and Liang Cheng",
year = "2019",
month = "1",
day = "1",
doi = "10.1097/PAI.0000000000000701",
language = "English (US)",
journal = "Applied Immunohistochemistry and Molecular Morphology",
issn = "1541-2016",
publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - Molecular Testing for EGFR Mutations and ALK Rearrangements in the Cytological Specimens from the Patients with Non-Small Cell Lung Cancer

AU - Wang, Xiaoyan

AU - Chen, Shaoxiong

AU - Emerson, Robert

AU - Wu, Howard

AU - Cramer, Harvey

AU - Curless, Kendra

AU - Chang, Hsim Yee

AU - Zhang, Shaobo

AU - Randolph, Melissa L.

AU - Cheng, Liang

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Objective: The aim of this study was to investigate epidermal growth factor receptor (EGFR) gene mutations and anaplastic lymphoma kinase (ALK) gene rearrangements using cytological specimens from the patients with a diagnosis of primary or metastatic lung non-small cell carcinoma. Materials and Methods: A total 307 cases were submitted for EGFR mutational analysis and 265 cases for ALK analysis. The cytological specimen sources included lung, lymph node, liver, bone, adrenal gland, mesentery mass, and body fluids/bronchial brushing. EGFR mutations in the exons 18 to 21 were analyzed with Qiagen EGFR Pyro Kits. Fluorescence in situ hybridization (FISH) studies for ALK rearrangement inv(2)(p21; p23) were performed on the paraffin-embedded cell block sections utilizing dual-color Vysis LSI ALK Break Apart Probe Kit. Results: Among 307 fine needle aspirate cases for EGFR analysis, 302 cases (269 from cell blocks, 33 from direct smears) had sufficient material for EGFR test. Five cases failed due to inadequate cellularity. Twenty six of 302 (8.6%) cases were positive for EGFR mutations. A total of 265 cases submitted for ALK analysis included 240 cases of fine needle aspirate, 25 cases of pleural fluid/pericardial fluid/bronchial washings. Eight cases failed because of low cellularity, whereas 257 of 265 cases had sufficient material for ALK FISH study. Nine of 257 cases (3.5%) revealed ALK rearrangement by FISH. Conclusions: The current study demonstrates that cytological specimens can yield sufficient material for EGFR mutations and ALK rearrangement test. Our study reveals that 8.6% of EGFR mutation rate and 3.5% of ALK rearrangement rate in the cytology specimens from the patients with primary or metastatic lung non-small cell carcinoma.

AB - Objective: The aim of this study was to investigate epidermal growth factor receptor (EGFR) gene mutations and anaplastic lymphoma kinase (ALK) gene rearrangements using cytological specimens from the patients with a diagnosis of primary or metastatic lung non-small cell carcinoma. Materials and Methods: A total 307 cases were submitted for EGFR mutational analysis and 265 cases for ALK analysis. The cytological specimen sources included lung, lymph node, liver, bone, adrenal gland, mesentery mass, and body fluids/bronchial brushing. EGFR mutations in the exons 18 to 21 were analyzed with Qiagen EGFR Pyro Kits. Fluorescence in situ hybridization (FISH) studies for ALK rearrangement inv(2)(p21; p23) were performed on the paraffin-embedded cell block sections utilizing dual-color Vysis LSI ALK Break Apart Probe Kit. Results: Among 307 fine needle aspirate cases for EGFR analysis, 302 cases (269 from cell blocks, 33 from direct smears) had sufficient material for EGFR test. Five cases failed due to inadequate cellularity. Twenty six of 302 (8.6%) cases were positive for EGFR mutations. A total of 265 cases submitted for ALK analysis included 240 cases of fine needle aspirate, 25 cases of pleural fluid/pericardial fluid/bronchial washings. Eight cases failed because of low cellularity, whereas 257 of 265 cases had sufficient material for ALK FISH study. Nine of 257 cases (3.5%) revealed ALK rearrangement by FISH. Conclusions: The current study demonstrates that cytological specimens can yield sufficient material for EGFR mutations and ALK rearrangement test. Our study reveals that 8.6% of EGFR mutation rate and 3.5% of ALK rearrangement rate in the cytology specimens from the patients with primary or metastatic lung non-small cell carcinoma.

KW - anaplastic lymphoma kinase (ALK)

KW - cytology

KW - epidermal growth factor receptor (EGFR)

KW - lung non-small cell carcinoma

KW - molecular testing

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U2 - 10.1097/PAI.0000000000000701

DO - 10.1097/PAI.0000000000000701

M3 - Article

JO - Applied Immunohistochemistry and Molecular Morphology

JF - Applied Immunohistochemistry and Molecular Morphology

SN - 1541-2016

ER -