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Molecular Diagnostics in Lung Cytology

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Molecular Diagnostics in Cytopathology

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Abstract

Cytology specimens obtained by minimally invasive procedures have become an increasingly important player for both the diagnosis and ancillary molecular testing in the work-up of patients with lung cancer. The identification of targetable genomic alterations is necessary to guide optimal therapy selection, and tumor PD-L1 testing has also emerged as a promising biomarker for selection of patients most likely to benefit from immune checkpoint inhibitor therapy. Given the ever-evolving landscape of ancillary molecular and biomarker testing in lung cancer, multiple guideline statements on the topic have been published over the past 5 years. Recognition of what specimens to test, how the testing should be performed, and which targets to test for will help both the cytopathologist and molecular pathologist to best utilize the limited cellular materials present in lung cancer cytology specimens.

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Abbreviations

AKT-1 :

AKT serine/threonine kinase 1

ALK :

anaplastic lymphoma kinase or ALK receptor tyrosine kinase

ASCO:

American Society of Clinical Oncology

ATS:

American Thoracic Society

BRAF :

v-raf murine sarcoma viral oncogene homolog B

CAP/IASLC/AMP:

College of American Pathologists/International Association for the Study of Lung Cancer/Association for Molecular Pathology

DDR2 :

discoidin domain receptor tyrosine kinase 2

EBUS-TBNA:

endobronchial ultrasound-guided transbronchial needle aspiration

EGFR :

epidermal growth factor receptor

ENB:

electromagnetic navigational bronchoscopy

ERBB2 :

erb-b2 receptor tyrosine kinase 2 (HER2)

FFPE:

formalin-fixed paraffin-embedded

FGFR1–4 :

Fibroblast growth factor receptor 1–4

FISH:

fluorescence in situ hybridization

FNA:

fine-needle aspiration

IASLC/ATS/ERS:

International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society

IHC:

immunohistochemistry

KIT :

KIT proto-oncogene receptor tyrosine kinase

KRAS :

Kirsten rat sarcoma viral oncogene homolog

MEK1 :

mitogen-activated protein kinase kinase 1

MET :

MET proto-oncogene, receptor tyrosine kinase

MTOR :

mechanistic target of rapamycin

NCCN:

National Comprehensive Cancer Network

NF1 :

Neurofibromin 1

NGS:

next-generation sequencing

NRAS :

neuroblastoma RAS viral oncogene

NRG1 :

Neuregulin 1

NSCLC:

non-small cell lung cancer

NTRK1–3 :

neurotrophic tyrosine kinase receptor, type 1–3

PCR:

polymerase chain reaction

PD-1:

programmed cell death protein 1 (CD279)

PD-L1:

programmed death-ligand 1 (CD274)

PDGFRA :

platelet-derived growth factor receptor alpha

PIK3CA :

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

RET :

proto-oncogene tyrosine-protein kinase receptor Ret

RIT1 :

Ras-like without CAAX 1

ROS1 :

ROS proto-oncogene 1, receptor tyrosine kinase

TKI :

tyrosine kinase inhibitor

TPS:

tumor proportion score

TSC1/2 :

tuberous sclerosis 1/2 (TSC1)

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Author information

Authors and Affiliations

  1. Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

    Paul A. VanderLaan

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  1. Paul A. VanderLaan
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Correspondence to Paul A. VanderLaan .

Editor information

Editors and Affiliations

  1. MD Anderson Cancer Center, The University of Texas, Houston, TX, USA

    Sinchita Roy-Chowdhuri

  2. Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

    Paul A. VanderLaan

  3. MD Anderson Cancer Center, The University of Texas, Houston, TX, USA

    John M. Stewart

  4. Department of Laboratory Medicine, University of Toronto, Toronto, ON, Canada

    Gilda da Cunha Santos

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VanderLaan, P.A. (2019). Molecular Diagnostics in Lung Cytology. In: Roy-Chowdhuri, S., VanderLaan, P., Stewart, J., Santos, G. (eds) Molecular Diagnostics in Cytopathology. Springer, Cham. https://doi.org/10.1007/978-3-319-97397-5_11

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  • DOI: https://doi.org/10.1007/978-3-319-97397-5_11

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