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Needle aspiration cytology has been in use for many decades and dates back at least to the early part of the nineteenth century. Sir James Paget is credited for aspirating malignant cells from a breast cancer patient in 1853. Much of the early experience of aspiration biopsy was not with “fine” needles but with larger bore cutting needles. The popularity of this simple procedure has largely been because of its cost effectiveness as well as the inherent qualities of the procedure itself: low complication rate, rapidity, and high diagnostic accuracy.

In inflammatory conditions such as mastitis and abscess formation, surgery can be avoided by the use of fine-needle aspiration (FNA). In conjunction with microbiologic studies of the aspirated material, FNA can provide valuable information about the etiology of an inflammatory condition of the breast (lactation, infection, or trauma). Fine-needle aspiration can also serve as a therapeutic modality when evacuating abscess material or cyst contents.

Fibroadenoma is the most common benign tumor occurring in the breast of adolescent and young women, typically noted between the ages of 20 and 35 years. It is rare before puberty and in the postmenopausal period and may show increased growth during pregnancy and lactation.

This chapter focuses on primary malignant tumors of the breast, including ductal, lobular, and special types of carcinomas and sarcomas.

Metastatic and secondary tumors are uncommon in the breast (0.5%–2%) compared with primary neoplasms, but an accurate diagnosis on FNA is imperative for a definitive and rapid diagnosis, preceding the often nonsurgical treatment of these cases. The most common of these include malignant melanoma, non-Hodgkin lymphoma, and carcinomas of the lung, urogenital tract, and gynecologic tract. However, almost every known tumor has been seen metastatic to the breast and can create real diagnostic problems not only for the treating physicians and radiologists but also for pathologists when these lesions are aspirated. Radiologically (mammographically or on ultrasound), these lesions appear as single, round, discrete, and often large nodule or mass usually lacking the irregularities and microcalcifications of primary breast cancer.

To obtain (NAF), a pump and/or a syringe connected to a suction cup is applied to the nipple and the aspirated fluid is collected using a capillary tube. This procedure yields NAF in 59%–99% of women. A volume of 20–30μl of fluid can be obtained (range 1–200). About 77% of the cells of NAF are foam cells of macrophage derivation, and only 13% are ductal epithelial cells (median 120 cells/ duct). Criteria for evaluation of NAF were developed in the mid-1970s and are similar to the criteria used for evaluation of breast FNA material. The cytologic findings in NAF from 2,701 volunteer women with no family history of breast cancer and no breast carcinoma at the time of enrollment were analyzed prospectively. The overall incidence of breast cancer in this cohort was 4.4% after median follow-up of 12.7 years. In this study, both incidence and relative risk of breast cancer increased with increasing severity of cytologic diagnosis of the NAF (Table 6.1). Although the relative risk of breast cancer associated with abnormal NAF was reduced in an updated analysis of the data, these results have generated much interest in the use of mammary cytology for the evaluation of breast cancer risk.