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Molecular Diagnostics in Breast Cytology

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Molecular Diagnostics in Cytopathology

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Abstract

Breast cancer is the most frequent carcinoma in females. It comprises a heterogeneous group of lesions that differ by morphology, clinical presentation, tumor biology, and response to therapy. Traditional classification of breast cancer has been based on evaluation of histologic features, but molecular studies and diagnostic assays have expanded the understanding of tumor biology and are impacting diagnosis, evaluation, and treatment. Here we review the molecular classification of breast cancer, assays commonly used in clinical care, and some tests that show promise in both the early and metastatic setting.

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Abbreviations

AJCC:

American Joint Committee on Cancer

ASCO:

American Society of Clinical Oncology

ATM :

Ataxia telangiectasia mutated

BRCA1 :

Breast cancer 1, early onset

BRCA2 :

Breast cancer 2, early onset

CAP:

College of American Pathologists

CB:

Cellblock

CDH1 :

E-cadherin

CEP17:

Centromere enumeration probe 17

cfDNA:

Cell-free circulating DNA

CHEK2 :

Checkpoint kinase 2

CNB:

Core needle biopsy

CTC:

Circulating tumor cell

ctDNA:

Circulating tumor DNA

CTLA-4 :

Cytotoxic T-lymphocyte-associated protein 4

DCIS:

Ductal carcinoma in situ

DNA:

Deoxyribonucleic acid

EGFR :

Epidermal growth factor receptor

ER:

Estrogen receptor

ERBB2 :

erb-b2 receptor tyrosine kinase 2 (HER2)

ETV6 :

ETS variant 6

FFPE:

Formalin-fixed paraffin-embedded

FISH:

Fluorescence in situ hybridization

FNA:

Fine needle aspiration

GI:

Gastrointestinal

HER2:

Human epidermal growth factor receptor 2 (ERBB2)

ICC:

Immunocytochemistry

IHC:

Immunohistochemistry

ISH:

In situ hybridization

MAML2 :

Mastermind-like protein 2

MECT1 :

Mucoepidermoid carcinoma translocated 1

MYB :

MYB proto-oncogene

NCCN:

National Comprehensive Cancer Network

NFIB :

Nuclear factor 1 B-type

NGS:

Next generation sequencing

NST:

No special type (breast carcinoma of no special type; also referred to as invasive ductal carcinoma)

NTRK :

Neurotrophic tyrosine kinase, receptor

PALB2 :

Partner and localizer of BRCA2

PARP:

Poly (ADP-ribose) polymerase

PD-1:

Programmed cell death protein 1 (CD279)

PD-L1:

Programmed death-ligand 1 (CD274)

PIK3CA :

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

PR:

Progesterone receptor

PTEN :

Phosphatase and tensin homolog

ROR:

Risk of recurrence

RS:

Recurrence score

RT-PCR:

Reverse transcription-polymerase chain reaction

STK11 :

Serine/threonine kinase 11

TP53 :

Tumor protein 53

WHO:

World Health Organization

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Authors and Affiliations

  1. Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA

    Liza M. Quintana

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  1. Liza M. Quintana
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Correspondence to Liza M. Quintana .

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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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Quintana, L.M. (2019). Molecular Diagnostics in Breast 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_13

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  • DOI: https://doi.org/10.1007/978-3-319-97397-5_13

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