Chapter 101: Lumps in the breast

Breast lumps are common and their discovery by a woman provokes considerable anxiety and emotion (which is often masked during presentation) because, to many, a breast lump means cancer. Many of the lumps are actually areas of thickening of normal breast tissue. Many other lumps are due to fibrocystic disease with either fibrosis or cyst formation or a combination of the two producing a dominant (discrete) lump. However, a good working rule is to consider any lump in the breast as cancer until proved otherwise. See TABLE 101.1 for causes of breast lumps in a specific outpatient study.

The genetic predisposition to breast cancer continues to be delineated with the strong predisposition from mutations in the genes BRCA1 and BRCA2. Refer to CHAPTER 18.

This is based on following a careful history and examination.

History

The history should include a family history of breast disease and the patient’s past history, including trauma, previous breast pain, and details about pregnancies (complications of lactation such as mastitis, nipple problems and milk retention).

Key questions¹

• Have you had any previous problems with your breasts?

• Have you noticed any breast pain or discomfort?

• Do you have any problems such as increased swelling or tenderness before your periods?

• Is the lump constant or changing?

• Have you noticed lumpiness in your breasts before?

• Has the lumpy area been red or hot?

• Have you noticed any discharge from your nipple or nipples?

• Has there been any change in your nipples?

• Does/did your mother or sisters or any close relatives have any breast problems?

Breast symptoms⁵

• Lump (76%)

• Tenderness or pain (10%)

• Nipple changes (8%)

• Nipple discharge (2%)

• Breast or nipple asymmetry or skin dimpling (4%)

• Periareolar inflammation

• Skin thickening or ridging

Important ‘tell-tale’ symptoms are illustrated in FIGURE 101.2.

Nipple discharge⁶

The diagnostic strategy is outlined in TABLE 101.2.

The discharge may be intermittent, from one or both nipples. It can be induced by quadrant compression.

A common reason is physiological, which is usually part of a normal hormonal process.

• Bloodstained:

  • – intraduct papilloma (commonest)

  • – intraduct carcinoma

  • – fibrocystic breasts

• Green–grey:

  • – fibrocystic breasts

  • – mammary duct ectasia

• Yellow:

  • – fibrocystic breasts

  • – intraduct carcinoma (serous)

  • – breast abscess (pus)

• Milky white (galactorrhoea):

  • – lactation cysts

  • – lactation

  • – hyperprolactinaemia

  • – drugs (e.g. antipsychotic, cocaine)

Periareolar inflammation

This presents as pain around the areola with reddening of the skin, tenderness and swelling. Causes may be inverted nipple or mammary duct ectasia.

Paget disease of the nipple

This rare but interesting sign and condition usually occurs in middle-aged and elderly women (see FIG. 101.4). It starts as an eczematous-looking, dry scabbing red rash of the nipple and then proceeds to ulceration of the nipple and areola (see TABLE 101.3). It is always due to an underlying malignancy.

Examination of the breasts

Objectives

• Identify a dominant lump (one that differs from the remainder of the breast tissue).

• Identify a lump that may be malignant.

• Screen the breasts for early development of cancer.

Time of examination: ideally, 4 days after the end of the period.

Method¹

1. Inspection: sitting—patient seated upright on side of couch in good light, arms by sides, facing the doctor, undressed to waist.

   1. Note:

      • asymmetry of breasts or a visible lump

      • localised discolouration of the skin

      • nipples:

        • – for retraction or ulceration

        • – for variations in the level (e.g. elevation on one side)

        • – or discharge (e.g. blood-stained, clear, yellow)

      • skin attachment or tethering → dimpling of skin (accentuate this sign by asking patient to raise her arms above her head)

      • appearance of small nodules of growth

      • visible veins (if unilateral they suggest a cancer)⁷

      • peau d’orange due to dermal oedema

   2. Raise arms above the head (renders variations in nipple level and skin tethering more obvious). Hands are pressed on the hips to contract pectoralis major to note if there is a deep attachment of the lump.

2. Examination of lymph glands in sitting position: patient with hands on hips. Examine axillary and supraclavicular glands from behind and front.

   Note: The draining lymphatic nodes are in the axillae, supraclavicular fossae and internal mammary chain.

3. Palpation:

   1. Patient still seated: palpate breast with flat of hand and then palpate the bulk of the breast between both hands.

   2. In supine position:

      • patient lies supine on couch with arms above head

      • turn body (slight rotation) towards midline so breasts ‘sit’ as flat as possible on chest wall

   Method

   • Use the pulps of the fingers rather than the tips with the hand laid flat on the breast.

   • Move the hand in slow circular movements.

   • Examine up and down the breast in vertical strips beginning from the axillary tail (see FIG. 101.5).

     • Systematically cover the six areas of the breast (see FIG. 101.6):

       • – the four quadrants

       • – the axillary tail

       • – the region deep to the nipple and areola

4. If a suspicious lump is present, inspect liver, lungs and spine.

   Note:

   • Most cancers occur in the upper outer quadrant (see FIG. 101.7).⁶

   • A useful diagram to record the findings is shown in FIGURE 101.8.

   • Lumps that are usually benign and require no immediate action are: tiny (<4 mm) nodules in subcutaneous tissue (usually in the areolar margin); elongated ridges, usually bilateral and in the lower aspects of the breasts; and rounded soft nodules (usually <6 mm) around the areolar margin.⁸

   • A hard mass is suspicious of malignancy but cancer can be soft because of fat entrapment.

   • The inframammary ridge, which is usually found in the heavier breast, is often nodular and firm to hard.

   • Lumpiness (if present) is usually most marked in the upper outer quadrant.

Investigations

X-ray mammography

Mammography can be used as a screening procedure and as a diagnostic procedure. It is currently the most effective screening tool for breast cancer.⁹ Positive signs of malignancy include an irregular infiltrating mass with focal spotty microcalcification.

Screening:

• established benefit for women over 50 years

• possible benefit for women in their 40s

• follow-up in those with breast cancer, as 6% develop in the opposite breast

• localisation of the lesion for fine-needle aspiration

Breast ultrasound

This is mainly used to elucidate an area of breast density and is the best method of defining benign breast disease, especially with cystic changes. It is generally most useful in women less than 35 years old (as compared with X-ray mammography).

Useful for:

• pregnant and lactating breast

• differentiating between fluid-filled cysts and solid mass

• palpable masses at periphery of breast tissue (not screened by mammography)

• for more accurate localisation of lump during fine-needle aspiration

Note: CT and MRI have limited use. An age-related schemata for likely diagnosis and appropriate investigations is presented in TABLE 101.4.

Needle aspiration and biopsy techniques

• Cyst aspiration

• Fine-needle aspiration biopsy: this is a very useful diagnostic test in solid lumps, and has an accuracy of 90–95% (better than mammography)⁶

• Large needle (core needle) biopsy

• Incision biopsy

Tumour markers

Oestrogen receptors are uncommon in normal breasts but are found in two-thirds of breast cancers, although the incidence varies with age. They are good prognostic indicators. Progesterone receptors can also be estimated.

Fine-needle aspiration of breast lump

This simple technique is very useful, especially if the lump is a cyst, and will have no adverse effects if the lump is not malignant. If it is, the needle biopsy will help with the preoperative cytological diagnosis.

Follow-up: the plan for aspiration is outlined in FIGURE 101.9.

Summary: investigation of a breast lump

If the patient presenting with a breast lump is younger than 35, perform an ultrasound;¹⁰ if older than 35 perform a mammogram and an ultrasound. If the lump is cystic—aspirate; if solid—perform a fine-needle biopsy and then manage according to outcomes. If it is suspicious, an excisional biopsy is the preferred option.

More than 99% of breast cancers will be detected if any component of an appropriately performed triple test is positive.¹¹

Breast cancer

Breast cancer is uncommon under the age of 30 but it then steadily increases to a maximum at the age of about 60 years.⁶ About one-third of women who develop breast cancer are premenopausal and two-thirds postmenopausal. Ninety per cent of breast cancers are invasive ductal carcinomas, the remainder being lobular carcinoma, papillary carcinomas, medullary carcinomas and colloid or mucoid carcinomas.¹

Risk factors include:

• increasing age (>40 years)

• living in a Western population

• pre-existing benign breast lumps

• alcohol intake >2 SDs/day

• use of menopause hormonal therapy (MHT) (combined oestrogen and progestogen) >5 years

• personal history of breast cancer

• family history in a first-degree relative (raises risk about threefold)

• known genetic mutations BRCA1 or BRCA2

• nulliparity

• late menopause (after 53)

• obesity

• childless until after 30 years of age

• early menarche⁹

• ionising radiation exposure

• Ashkenazi Jewish ancestry

Familial breast cancer

Up to 5% of cases are familial, with most being autosomal dominant. Refer to CHAPTER 18.

Clinical features

• The majority of patients with breast cancer present with a lump (76%).⁶

• The lump is usually painless (10% associated with pain).

• Usually the lump is hard and irregular.

• Nipple changes, discharge, retraction or distortion.

• Rarely cancer can present with Paget disease of breast (nipple eczema) or inflammatory breast cancer (see CHAPTER 100).

• Rarely it can present with bony secondaries (e.g. back pain, dyspnoea, weight loss, headache).

Note: There are basically three presentations of the disease:

• the vast majority present with a local breast lump¹

• ductal carcinoma in situ

• some present with metastatic disease

Of those who present with local disease, approximately 50% will develop metastatic disease.

Management

Immediate referral to an expert surgeon on suspicion or proof of breast cancer is essential.

Guidelines for referral include:¹¹

• any positive component of the triple test

• incomplete cyst aspiration

• spontaneous unilateral bloody or serious discharge from a single duct (especially in women aged 60 years and over)

• persistent eczematoid changes of nipple that do not respond to topical treatment

• unresolving inflammatory mastitis

The treatment has to be individualised according to the nature of the lump, age of the patient and staging. Accurate staging requires knowledge of whether the draining lymph nodes are involved with the tumour, as this is the single most powerful predictor of subsequent metastases and death. Staging for systemic disease also requires full blood examination and liver function tests (including alkaline phosphatase). A bone scan may be used as a valuable baseline. Size and histological grading of tumour plus nodal status and receptor status are the most important prognostic factors.

Optimal management of locally advanced breast cancer is a combined approach that uses chemotherapy, radiotherapy, surgery and/or endocrine therapy if applicable (level IV evidence).

Surgical options are:

• lumpectomy to negative margin

• mastectomy

• mastectomy with reconstruction

Most relapses¹² after surgery occur in the first 3 years.

Ductal carcinoma in situ

DCIS is a non-invasive abnormal proliferation of milk duct epithelial cells within the ductal–lobular system and is a precursor lesion for invasive breast cancer. Since mammography screening it is readily detected and now comprises about 20% of breast cancer. It may present clinically with a palpable mass or nipple discharge or Paget disease of the nipple with or without a mass.

Management

Management decisions are challenging, with options being total mastectomy or breast-conserving therapy with or without radiotherapy. Patients usually have an excellent outcome with low local recurrence rates and a survival of at least 98%.¹³

Adjuvant therapy for breast cancer

The consultant will choose the most appropriate surgical and adjuvant treatments (which are designed to treat and destroy micrometastatic disease) for the individual patient.

The National Breast Cancer Consensus report emphasised that ‘continuing care should be coordinated through the patient’s GP as the impact of treatment may last longer than therapy and support must continue’. The report made the following recommendations:¹⁴

• Tumour excision followed by whole breast irradiation was the most preferred local therapy for most women with stage I or II cancer.

• Total mastectomy and breast-conservation surgery had an equivalent effect on survival.

• Total mastectomy is preferred for a large tumour, multifocal disease, previous irradiation and extensive tumour on mammography.

• Recommendations for radiotherapy after mastectomy are:¹⁵

  • – tumours >4 cm in diameter

  • – axillary node involvement of >3 nodes

  • – the presence of positive or close tumour margins

• Intraoperative radiotherapy following tumour excision is one of several techniques for partial breast irradiation.¹⁶

• Cytotoxic chemotherapy has an important place in management, especially in young, healthy women who are E receptor negative and have visceral spread.¹⁷

• Adjuvant hormonal therapy by the anti-oestrogen agent tamoxifen 20 mg (o) daily if E receptor +ve, which is a specific modulating agent, is widely used and is most suitable in postmenopausal women. The usual course is 5 years.

  Adjunct agents available for treatment include:^18,19

• anti-oestrogens (E receptor blockers or SERMS): tamoxifen, toremifene

• aromatase inhibitors (for hormone receptor +ve cancer in postmenopausal women): anastrozole, letrozole, exemestane

• monoclonal antibodies: trastuzumab (Herceptin) or pertuzumab (Perjeta)

• bisphosphonates: recommended for women with bony metastases since evidence indicates reversal of bone density loss and cancer recurrence^17,18

• progesterones (e.g. medroxyprogesterone acetate)

• the OCP (if taken) should be ceased, and pregnancy is inadvisable

Guidelines for adjuvant treatments can be accessed at <guidelines.nbocc.org.au/guidelines/guideline_2.pdf>.

Fibrocystic breasts

Synonyms: fibroadenosis, chronic mastitis, mammary dysplasia, cystic hyperplasia, fibrocystic disease.

Clinical features

• Most common in women between 30 and 50 years

• Hormone-related (between menarche and menopause)

• Pain and tenderness and swelling

• Premenstrual discomfort or pain and increased swelling

• Fluctuation in the size of the mass

• Usually settles after the period

• Unilateral or bilateral

• Nodularity ± a discrete mass

• Ache may extend down inner aspect of upper arm

• Nipple discharge may occur (various colours, mainly green–grey)

• Most cysts are premenopausal (final 5 years before menopause)

Examination. Look for lumpiness in one or both breasts, usually upper outer quadrant.

Management

• Consider mammography if diffuse lumpiness is present in patient >40 years.

• Perform needle biopsy if a discrete lump is present and aspirate palpable cysts.

• Reassure patient that there is no cancer.

• Give advice to alleviate mastalgia (see treatment for cyclical mastalgia in CHAPTER 100).

• Use analgesics as necessary.

• Surgically remove undiagnosed mass lesions.

Breast cyst

• Common in women aged 40–50 years (perimenopausal)

• Rare under 30 years

• Associated with mammary dysplasia

• Tends to regress after the menopause

• Pain and tenderness variable, most asymptomatic

• Has a 1 in 1000 incidence of cancer

• Usually lined by duct epithelium

Examination. Look for a discrete mass, firm, relatively mobile, that is rarely fluctuant.

Diagnosis

• Mammography

• Ultrasound (investigation of choice)

• Cytology of aspirate

Management

• Drainage with a fine needle

  Surgery is rarely required.

Localised nodularity

Usually:

• in upper outer quadrant of breast

• a physiological change to breast

• managed with clinical surveillance

• investigate with imaging in older women if asymmetric or perceived change

Lactation cysts (galactoceles)

• These milk-containing cysts arise during pregnancy and present postpartum with similar signs to perimenopausal cysts.

• They vary from 1–5 cm in diameter.

• Treat by aspiration: fluid may be clear or milky.

Fibroadenoma

Clinical features

• A discrete, asymptomatic lump

• Usually in 20s (range: second to sixth decade, commonly 15–35 years)

• Firm, smooth and mobile (the ‘breast mouse’)

• Usually rounded

• Usually in upper outer quadrant

• May double in size every 12 months⁷

Management

Ultrasound and fine-needle aspiration or core biopsy with cytology are recommended plus mammography in older women. If needle aspiration or core biopsy is negative, the patient can be reassured and followed up until the fibroadenoma is deemed stable. A repeat ultrasound and examination within 6–12 months is ideal. Excision biopsy if large (>3–4 cm), continues to enlarge, suspicious biopsy or woman >40 years.

Phyllodes tumour²⁰

These are giant fibroadenoma-like tumours that are usually benign but 25% are malignant and metastasise. They are completely excised with a rim of normal breast tissue.

Fat necrosis

Fat necrosis is usually the end result of a large bruise or trauma that may be subtle, such as protracted breastfeeding. The mass that results is often accompanied by skin or nipple retraction and thus closely resembles cancer. If untreated it usually disappears but the diagnosis can only be made on excision biopsy.

The full triple test is required.

Duct papillomas

These are benign hyperplastic lesions within large mammary ducts and are not premalignant (nor usually palpable). They present with nipple bleeding or a bloodstained discharge and must be differentiated from infiltrating carcinoma. Mammography and ductography are usually of limited value. The involved duct and affected breast segment should be excised.²⁰

Mammary duct ectasia

Synonyms: plasma cell mastitis, periductal mastitis.

In this benign condition a whole breast quadrant may be indurated and tender. The larger breast ducts are dilated. The lump is usually located near the margin of the areola and is a firm or hard, tender, poorly defined swelling. There may be a toothpaste-like nipple discharge. It is a troublesome condition with a tendency to repeated episodes of periareolar inflammation with recurrent abscesses and fistula formation. Many cases settle but sometimes surgical intervention is necessary to make the diagnosis. The condition is most common in the decade around the menopause.

Clinical examination is still necessary and fortunately the residual mammary tissue is usually spread over the prosthesis in a thin, easily palpable layer. The areas of clinical difficulty lie at the margin of the prosthesis, especially in the upper outer quadrant where most of the breast tissue is displaced. It should be noted that mammography may be of limited value in the presence of prostheses, especially if a fibrous capsule exists around the prosthesis. Ultrasound examination may be helpful.

Lymphoedema of arm

This is a long-term complication of surgery plus irradiation for breast cancer treatment when there is a failure of the lymphatic system to adequately drain extracellular fluid. The limb feels tight and heavy with decreased mobility. Exclude obstruction of the deep venous system by Doppler ultrasound.

Skin changes can occur from long-term lymphoedema without treatment, and cellulitis from abrasions and wounds is a concern.

Management

• Encourage movement; elevation of the arm on a pillow at night; avoid slings

• Physiotherapy: a reduction phase with non-elasticised bandages then maintenance with graduated pressure support sleeves

• Elastic sleeves worn all day but not at night

• Lymphoedema massage at home

• Skin hygiene: regular use of non-perfumed emollients, prevention of infection and injury. Avoid sunburn and insect bites

• Avoid BP measurement, venesection and IV therapy in that arm

• Consider diuretics to relieve pressure

There are several benign conditions that can cause a breast lump in children, although the commonest presentation is a diffuse breast enlargement.

Neonatal enlargement²¹

Newborn babies of either sex can present with breast hyperplasia and secretion of breast milk (see CHAPTER 91). This is due to transplacental passage of lactogenic hormones. The swelling usually lasts 7–10 days if left alone. Any attempts to manipulate the breasts to facilitate emptying will prolong the problem.

Premature hyperplasia²¹

The usual presentation is the development of one breast in girls commonly 7–9 years of age but sometimes younger. The feature is a firm discoid lump 1–2 cm in diameter, situated deep to the nipple. The same change may follow in the other breast within 3–12 months. Reassurance and explanation is the management and biopsy must be avoided at all costs.

‘Treat the whole woman, not merely her breasts.’⁸ Extreme anxiety is generated by the discovery of a breast lump and it is important that women are encouraged to visit their doctor early, especially as they can learn that there is a 90% chance of their lump being benign. It is possible that denial may be a factor or there is a hidden agenda to the consultation. The decision to perform a lumpectomy or a mastectomy should take the patient’s feelings into consideration—many do fear that a breast remnant may be a focus for cancer. Long-standing doctor–patient relationships are the ideal basis for coping with the difficulties.

For asymptomatic, low-risk women, screening mammography is advised every 2 years between the ages of 50 and 74 (see CHAPTER 9). In Australia, screening mammography is optional for women aged between 40 and 49. Technically, it is a better diagnostic tool in older women because of the less dense and glandular breast tissue. It has a specificity of around 90%.

The Familial Risk Assessment—Breast and Ovarian Cancer (FRA–BOC) online tool can be used to guide screening for women at increased risk. This can be accessed at <https://canceraustralia.gov.au/clinical-best-practice/gynaecological-cancers/familial-risk-assessment-fra-boc>.

A FRA–BOC risk assessment places women in one of three categories:

• Category 1—at (or slightly above) average risk.

  Optional 2-yearly mammograms from 40 years, routinely recommended from age 50.

• Category 2—moderately increased risk. Annual mammograms from age 40 may be recommended if the woman has a first-degree relative <50 years diagnosed with breast cancer. Otherwise, routine 2-yearly mammograms are advised.

• Category 3—potentially high risk. Referral to a family cancer clinic recommended for possible genetic testing. Increased surveillance is determined on an individual basis.

Breast self-examination is a controversial issue and has no proven benefit in reducing morbidity and mortality. The false positive rate is high, especially in those under 40 years. There is also insufficient evidence to support routine clinical breast examination, although there may be a role for it in the case of women who are not participating in regular mammographic screening. Breast awareness, which involves being familiar with the look and feel of one’s breasts and presenting early if a change is detected, should be promoted to all women.

• Patients with a solitary breast mass

• Following cyst aspiration:

  • – blood in aspirate

  • – palpable residual lump

  • – recurrence of the cyst

• Patients given antineoplastic drugs, whether for adjuvant therapy or for advanced disease, require skilled supervision

Lumps that require investigation and referral are presented in TABLE 101.5.

Hand-out sheets from Murtagh’s Patient Education 7th edition:

• Breast cancer

• Breast lumps

• Breast awareness and breast self-examination