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FISH Testing of Cytology Specimens: Pre-analytic, Analytic, and Post-analytic Considerations

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Molecular Diagnostics in Cytopathology

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Abstract

Fluorescence in situ hybridization (FISH) has been a revolutionary adjunct tool to traditional histopathological approaches for detecting genomic abnormalities in neoplasia that aid in diagnosis, prognosis, or prediction of response to therapy. With the rise of minimally invasive procedures for obtaining lesional material for evaluation, FISH studies performed on cytologic preparations have increased in use and demonstrated value in patient care. In this chapter, the qualitative and quantitative pre-analytic and analytic considerations of FISH as they relate to various cytology specimens are addressed. In addition, aspects of FISH validation as well as the principles and challenges inherent in the interpretation of FISH results are also presented.

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Abbreviations

ABL1 :

ABL proto-oncogene 1

ALK :

Anaplastic lymphoma kinase or ALK receptor tyrosine kinase

BCL2 :

B-cell CLL/lymphoma 2

BCR:

Breakpoint cluster region

bp:

Basepair

BRAF :

v-Raf murine sarcoma viral oncogene homolog B

CCND1 :

Cyclin D1

DAPI:

4′,6-diamidino-2-phenylindole

EDTA:

Ethylenediaminetetraacetic acid

EML4 :

Echinoderm microtubule-associated protein-like 4

ERBB2 :

Erb-b2 receptor tyrosine kinase 2 (HER2)

ERG :

ERG, ETS transcription factor

ETV6 :

ETS variant 6

EWSR1 :

Ewing sarcoma breakpoint region 1

FFPE:

Formalin fixed paraffin embedded

FISH:

Fluorescence in situ hybridization

FNA:

Fine-needle aspirate

HER2 :

Human epidermal growth factor receptor 2 (ERBB2)

IGH :

Immunoglobulin heavy chain

ISH:

In situ hybridization

Kb:

Kilobase

KMT2A :

Lysine methyltransferase 2A

LBC:

Liquid-based cytology

Mb:

Megabase

MLL :

Mixed-lineage leukemia

MYC :

v-myc avian myelocytomatosis viral oncogene homolog

MYCN :

v-myc myelocytomatosis viral oncogene homolog, neuroblastoma-derived

Pap:

Papanicolaou

PML :

Promyelocytic leukemia

RARA :

Retinoic acid receptor alpha

ROS1 :

ROS proto-oncogene 1, receptor tyrosine kinase

RT-PCR:

Reverse transcription-polymerase chain reaction

RUNX1 :

Runt-related transcription factor 1

SS18 :

Synovial sarcoma translocation chromosome 18

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Acknowledgments

The authors thank Billy Davis and Xiao-Qiong Liu for their assistance with the figures.

Author information

Authors and Affiliations

  1. Department of Laboratories, Seattle Children’s Hospital, Seattle, WA, USA

    Karen D. Tsuchiya

  2. Laboratory for Clinical Genomics and Advanced Technologies, Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

    Laura J. Tafe

  3. Departments of Pathology/Microbiology, Pediatrics and Orthopedic Surgery, University of Nebraska Medical Center/Nebraska Medicine, Omaha, NE, USA

    Julia A. Bridge

Authors
  1. Karen D. Tsuchiya
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  2. Laura J. Tafe
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  3. Julia A. Bridge
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Corresponding author

Correspondence to Karen D. Tsuchiya .

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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Tsuchiya, K.D., Tafe, L.J., Bridge, J.A. (2019). FISH Testing of Cytology Specimens: Pre-analytic, Analytic, and Post-analytic Considerations. 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_7

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  • DOI: https://doi.org/10.1007/978-3-319-97397-5_7

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