Diagnosing Breast Cancer

{Although this article has been written with health professionals in mind, it has been simplified for the General Public.}

Global stats show that breast cancer is the most frequently diagnosed cancer and accounts for 23 percent of the cancer cases and 14 percent of cancer related deaths.

Even though breast cancer incidence rates are increasing, annual mortality rates have decreased over the last decade.
Screening mammography permits diagnosis at an early stage of the disease and is therefore attributable to the decline in mortality.

This article will teach you on how to Diagnose a Case of Breast Cancer systematically.

We will cover in Depth- History Taking, General Examnation and how to palpate Lymph Nodes, the Breast, Systemic Examination and Laboratory Investigations, along with the rationale behind each of these.

At the end of this article, the reader should get a fair Idea on how to approach a potential case of CA Breast.

Let’s begin.

History

When a patient presents to you with a breast mass the following details have to looked into-

General information-

  • Age– Age is a very important non-modifiable risk factor for breast cancer.It is also important in deciding investigations- for younger women ultrasound is preferred, in older women mammography is preferred.
  • Occupation– occupational details should be looked into.
    For example, women with a history of radiation exposure are at a higher risk for breast cancer- for Example Radiology Technicians, or those being exposed to risk factors at work.
  • Socioeconomic status– Breast cancer incidence is common in higher socio-economic status.

Chief complaints

These are the complaints your patient will present with. Here’s how you’ll evaluate them:

  • Lump in the breast and duration of the lump
    Whether the lump is insidious in onset, the rate of growth of the lump, whether the lump is associated with any pain, and history of swelling in the opposite breast and axilla.

Breast cancers are usually insidious(gradual) in onset, rapidly growing, mostly painless, and maybe associated with single or multiple swellings in the axilla(armpit).

  • Pain in the breast and duration

Breast cancer is usually painless, but may cause pain as it progresses as it invades nerves and normal tissue such as skin and chest wall.

  • Nipple discharge

Breast cancer nipple discharge is usually unilateral and a bloody discharge associated with a non tender mass.

Image result for bloody nipple discharge
Blood Nipple Discharge
Color of Nipple DischargeMost frequently Seen in
Bloody RedCarcinoma, ductal papilloma, duct ectasia
GreenishEctasia, Fibrocystic breast disease
SerousEctasia, Fibrocystic breast disease
PurulentInfection, rarely malignancy
MilkLactation, Galactorrhoea
SerosanguinousCarcinoma, Infection
  • Nipple retraction
    Breast cancer may be  associated with nipple retraction, due to the tumor invading the lactiferous ducts causing them to shorten thus pulling the nipple inwards.
Nipple retraction
  • History of loss of weight/appetite
    Loss of weight, appetite is usually seen in advanced breast cancer cases.

Significant weight loss is the loss of 5% of body weight over 6-12 months.

  • History of metastasis in breast cancer

50-60% of breast cancer metastasis occurs in bone- mostly long bones such as the femur or lumbar vertebrae.

History of back pain may be present.

Image result for breast cancer bone metastasis
Vertebral mets in breast cancer
  • History of jaundice
    When the liver is damaged to a significant extent the patient may present with jaundice.
Image result for breast cancer liver metastasis
Liver studded with mets from breast primary

Lung mets are present in 20% of metastatic cases- patient presents with symptoms of breathlessness and cough with hemoptysis.

Image result for breast cancer lung metastasis
Lung mets in breast cancer

Brain metastasis presents as headache, vomiting, seizure, blurring and weakness of limbs.

Image result for breast cancer brain metastasis
Brain metastasis in breast cancer
  • Past history 
    Whether the patient is having any known chronic condition such as diabetes mellitus, hypertension, coronary heart disease and whether the patient is on medications for the same.

    Past history is important when planning for further management.

    Details of any previous radiation to the chest/neck region.
  • Treatment history
    Patient must be asked details about any previous surgery, radiotherapy, chemotherapy. 
  • Personal history
    History of smoking/alcohol should be asked as smoking and alcohol is associated with higher risk for breast cancer. 

History of hormonal replacement therapy should be asked for as it is also associated with breast cancer.

Image result for smoking
Smoking and Alcohol are associated with a higher risk of breast cancer. 
  • Menstrual history and marital history
    One of the main causes of breast carcinoma is unopposed estrogen exposure. 

    Early menarche, late child birth, nulliparity, late age of menopause are all associated with a higher risk for breast cancer. These risk factors have been discussed in a separate section.
  • Family history
    History of breast and ovarian carcinomas especially in first degree relatives is associated with BRCA gene mutation or other gene mutations responsible for breast cancer.

Clinical Examination

Before looking into the local examination of the breast it is important that we include the General Examination-

  • Under general examination we look for whether the patient is comfortable or not.
  • Whether the patient is conscious, oriented in time, place and person and co-operative. 

    Impairment of higher functions gives us an idea of the general condition of the patient and tells us the possibility of brain metastasis.
  • Nourishment of the patient whether it is average or poor.
    Breast cancer in advanced stage may result in a loss of appetite as mentioned earlier, leading to poor nourishment.

    This is decided by BMI [Weight(Kg)/height(mt^2)] 

Axillary lymph node examination

Lateral to the pectoralis minor is level I lymph nodes, behind the pectoralis minor is level II lymph nodes and medial to the pectoralis minor is level III.

These three levels of lymph nodes are divided into five groups- 

Level I group– Includes lateral group, posterior group and anterior group.

Level II group– central lymph nodes

Level III– apical lymph nodes

Ultimately all these lymph nodes drain into the subclavian veins.

Method for palpating anterior group of lymph nodes-

If you’re examining the right axillary lymph nodes, use your left hand with the patient’s hand resting on your examining hand.
The anterior group of lymph nodes must be examined against the anterior axillary fold with the pulp of the examining fingers.

Palpation of central group of lymph nodes-

For right axilla use your left hand for palpation, in the centre of the axilla.
The central group of lymph nodes are palpated against the 2nd, 3rd and 4th ribs.

Palpation of apical group-

Use same technique as in central group except that you have to push finger further upwards.

Palpation of lateral group-

For right axilla examination, use your right hand fingers for palpation.

The clinician steadies the right shoulder with the left hand and right hand palpates the lateral group of axillary lymph nodes against the shaft of the humerus, in between the two axillary folds.

Palpation of the posterior subgroup-

For palpation of the right posterior group of lymph nodes the clinician stands behind the patient and lifts the right hand of the patient with his left hand and places his right hand along the posterior axillary fold.

The patient’s hand is then brought down and palpated along the posterior axillary fold.

Supraclavicular lymph nodes-

Stand on the back of the patient and palpate at the supraclavicular fossa. The neck may be flexed on the side for easy palpation.

Axillary Lymph nodes in breast carcinoma are usually painless, hard and may be mobile or fixed.

Systemic Examination

  • Respiratory system
    Look for abnormal breath sounds which could be due to lung metastasis.
  • Abdominal examination
    L
    ook for any mass per abdomen
    Free fluid in the abdomen (could be due to malignant ascites)
    Any organomegaly in the abdomen (maybe due to liver metastasis)  or pelvis (due to ovarian mets also known as krukenberg tumour).

 How to Examine the Breast:

During the examination of the breast the patient has her arms placed on the side of the body, with patient in sitting position.

The breast examination begins with inspection.

What to look for during inspection-

Breast characteristics such as Size, Shape, symmetry, position or any lump seen. Patient must be asked to bend forward to see whether breast falls or not. Carcinoma if fixed to the chest wall will not fall on bending forward.

Inspection

A complete breast examination requires mandatory examination of both breasts

Inspection of both breasts- Both breasts are examined for size, shape, position and symmetry.

Size– Asymmetry in size can be seen in breast lumps.

Position of the breast– depending on the underlying pathology the breast maybe displaced upwards/lateral or downwards.
The breast may be drawn towards the growth.  

Movement of the breast Patients may be asked to lean forward or raise the arms above the head to look for breast movements.

In carcinoma of the breast, when lump gets fixed to the chest wall the breasts will not fall forward.

If the swelling is benign there is no restriction in breast movements.

Inspection of the nipple
Nipple is inspected for size, shape, asymmetry, displacement, ulceration and discolouration.

Size and shape of the nipple– Nipple may be retracted due to infiltration of the lactiferous ducts by the carcinoma and subsequent fibrosis. Retracted nipple can also occur in duct ectasia or periductal mastitis.

Destruction of nipple maybe seen in Pagets disease of the breast and fungating/ulcerating carcinoma.

Level– vertical distance from the clavicle and horizontal distance of the nipple from the midline must be noted. Nipple maybe drawn towards the lump in the affected breast.

Discharge– In breast carcinoma, the type of discharge is bloody. Bloody discharge can also be seen in duct papilloma. Malignant discharge can also be purulent.

Inspection of the areola
Colour– Areola is pink in colour in young girls, dark in adults, brownish during lactation and pregnancy. Areola is reddish in Paget’s disease.

Size– Size of the areola is increased significantly in large fibroadenoma. The areola may shrink in carcinoma.

Surface– Ulceration/eczema like changes on the nipple must be looked for.

Pagets disease presents with ulceration/eczema of the nipple. Pagets disease should not be confused with eczema. Eczema is associated with vesicles, itching and is seen in bilateral breasts without association with any nodules underneath the nipple.

Pagets disease is noted in unilateral breasts without any vesicles and itching, with a hard lump and destruction of the nipple. 

Inspection of skin over the breast

Involvement of the ligaments of cooper by carcinoma causes dimpling(small depression) and puckering(small fold and wrinkle). The ligaments of cooper become shorter during carcinomatous infiltration.

Blockage of skin lymphatics by cancer cells causes edema of the skin gives peau d’ orange appearance due to burial of hair follicles.

Carcinoma of the skin can cause ulceration.

Nodules may be seen on the skin due to carcinoma or maybe metastatic due to underlying breast carcinoma.

Inspection of swelling/breast lump-Location should be noted with respect to the quadrants. The most common location for breast cancer is upper outer quadrant.

Quadrants of Breast

Malignant swellings have rough and irregular margins as compared to benign swellings which have smooth, regular margins. Skin over the swelling should be inspected for ulceration, dimpling and puckering of the overlying skin.

Inspection of the axilla– Axilla and supraclavicular fossa should be noted for any swelling, ulceration, fungation.

Inspection of the arm and thorax– The arm may have edema due to obstruction of lymph nodes caused by cancer cells. The thorax may show skin thickening with multiple nodules giving a shield like appearance. This appearance is called ‘cancer en cuirasse’  as it looks like an armour coat.

Palpation:

The Normal breast should be palpated first.


Palpation is done using the palmar aspects of the fingers with the hand flat. All quadrants of the breast may be palpated including the nipple areola complex and axillary tail of Spence.

Tenderness– breast carcinomas are usually painless, but may later become painful due to chest wall and akin infiltration.

Local rise of temperature– Breast carcinomas or sarcomas can cause the breast to be warm due to increased vascularity.

Location of lump– Breast carcinomas are more common in upper outer quadrant. Fibroadenoma is more common in lower quadrant.

60% breast carcinomas are seen in upper outer quadrant.

Number– carcinomas of the breast are usually single.

Size– Size of the breast is used in T staging and should be measured using a measuring tape.

Margin– In carcinomatous lesions the margins are irregular and well defined. In benign lesions such as Fibroadenoma the margins are well defined and regular.

Consistency– Benign conditions such as fibroadenomas are firm, whereas carcinomas are stony hard.

Checking for fixity of the lump-

Fixity of the lump to the breast tissue– On holding the lump and moving it sideways, if the breast tissue moves along with the lump, the lump is said to have been fixed to breast tissue. The lump wont move from side to side if it is fixed to the chest wall. Fibroadenoma shows free mobility in all directions in the breast.

Infiltration of lump into skin and chest wall

Skin tethering– Inward puckering of skin caused by carcinomatous involvement of cooper’s ligaments.. When skin tethering occurs the lump can be moved without moving the skin unless the skin is involved, then the skin also moves along with the lump.

Fixity to skin– In order to check for fixity to skin, the skin overlying the tumour is pinched.

Pinching the skin is not possible if the skin is involved. On pinching a wider portion of the skin between thumb and fingers peau d’ orange maybe better appreciated.

Fixity to Pectoralis major muscle– Patient is asked to keep her hands firmly on the waist. The tautness of the pectoralis muscle is checked by palpating the anterior axillary fold. If movement of the lump mainly along the direction of the fibres and perpendicular to the muscle is restricted then the pectoralis muscle is said to have been infiltrated by the tumour.

Fixity to Latissimus dorsi muscle– Latissimus dorsi is made taut by extending the arm against resistance and flexing the elbow at 90 degrees. If mobility of the lump is restricted, it confirms that the lump is fixed to the latissimus dorsi.

Fixity to serratus anterior The patient is made to push a wall with outstretched hands. The lump is then checked for mobility. If the moment is restricted then the lump is said to have infiltrated the serratus anterior muscle.

Involvement of serratus anterior signifies chest wall invasion. Chest wall invasion corresponds to T4 disease as per the TNM staging.

Chest wall fixity– As described earlier the patient is made to lean forward and the extent to which the breasts fall forward is examined. In chest wall fixation the forward fall of the breast is restricted. Chest wall fixity means fixation to the underlying ribs, intercostals and serratus anterior.  

Palpation of nipple– The nipple is checked for tenderness, consistency, rise of temperature and mobility.
Retraction of the nipple is better appreciated by palpating the nipple.
Nipple discharge may be better appreciated by palpating the breast lump.

Once the discharge is collected it should be sent for cytology.

In retracted nipple, eversion of nipple is tried by pressing it at its base.
In case of congenital retraction of the nipple the nipple will be everted.
In case of carcinoma the nipple cannot be everted.

Nipple deviation is inspected by checking the distance of bilateral nipples from the midline and the midclavicular point.

Retrated nipple

Ulceration– ulcer over the breast should be assessed for floor, margins, tenderness, discharge and mobility.

That concludes the clinical history and examination of the breast.

Laboratory Investigations

When a patient presents with breast lump, basic investigation such as complete blood count(CBC), kidney function tests(RFT) and liver function tests(LFT) are ordered.

Complete blood count Complete blood counts gives us a general idea about the health of the individual. It detects anemia if present.

If the haemoglobin levels are low, the patient cannot be considered for chemotherapy, surgery or radiation. Patient can be considered once the haemoglobin is corrected.

Chemotherapy and radiation require free radicals to perform their actions within the tumour. These free radicals require oxygenation. Therefore adequate blood supply and haemoglobin levels are required for adequate oxygen delivery. 

Raised white blood cell counts suggests an underlying infection and warrants further investigation. Raised or decreased blood counts precludes the use of chemotherapy, surgery or radiation.

Significant decrease in platelet counts lead to bleeding disorders and increase in platelet counts increases the risk for thrombus formation. Hence chemotherapy and surgery are avoided under these conditions.

Kidney Function test– This test is done to see how well the kidneys are doing their job. In order to start chemotherapy the kidney function needs to be intact. 

Liver function tests– This test is done to see how well the liver is doing its job. The common drugs used in breast cancer chemotherapy docetaxel, epirubicin and cyclophosphamide are all mostly metabolized in the liver and have an increased risk of causing hepatotoxicity. 

Breast cancer can give rise to liver metastasis. Once the liver is significantly damaged due to mets, patient presents with jaundice and deranged liver function tests.

When the patient enters the clinic with a breast lump how is she evaluated?

When patient presents with a breast lump, the lump is further evaluated.
To evaluate a breast lump a mammogram and an ultrasound are recommended.

A suspicious breast lump should never be ignored even if a mammogram is negative, as mammograms fail to detect 5-25%. 

Findings on mammogram

Abnormal findings on mammogram are discussed in a separate article here.

Ultrasound– it is done to look whether a lesion is solid or cystic, retro tumour acoustic shadowing, dimensions, irregular margins, irregular internal echoes, posterior shadowing, ratio between anteroposterior to width- If ratio is greater than 1 it is suggestive of carcinoma. 

Benign lesions are smooth, rounded, with well defined margin. Lesions less than 1 cm may not be well identified on ultrasound, in these cases FNAC can be done under ultrasound guidance. 

Fine Needle Aspiration Cytology(FNAC)FNAC is done under UltraSound guidance but the results are sometimes difficult to interpret due to sampling errors and require further evaluation.
A 23 gauge needle is used to perform an FNAC. 

The lump is first held in between the fingers and under sterile conditions the syringe with needle is passed into the lump with negative pressure and continuous aspiration is done until adequate material comes into the syringe. 

The material is then collected on a slide and smeared with 100% alcohol. The scoring system of FNAC is as follows –

C0-no epithelial cells

C1-scanty epithelil cells

C2-benign cells

C3-atypical cells

C4-suspicious cells

C5-malignant cells

FNAC

In case the swelling is cystic it will disappear completely.

It must be noted that malignant deposits will not occur along the needle track. 

Trucut biopsy

Trucut biopsy is more reliable and more useful in achieving tissue diagnosis of CA Breast.  The tissue sample obtained is used for determining the receptor status. Track deposition of tumour cells is considered less significant. 

Trucut biopsy needle

Trucut biopsies require needle with a wider bore than that used in FNAC. The needle is inserted in the breast 3-6 times to obtain adequate samples for a confirmed diagnosis and receptor status. 

Indications for a trucut biopsy –

  • If the lesion is benign, equivocal or malignant on FNAC, a TruCut biopsy is performed. Cores obtained from trucut biopsy are used to confirm immunohistochemical status of the tumour.
  • If the lesion is small, impalpable or calcified. 

MRI

MRI of breast may be done as a diagnostic modality under the following conditions-

  • Breast cancer screening in young women especially those with dense breasts or with an increasing risk of developing breast cancer (eg. gene mutations, hereditary syndromes)
  • Evaluation of women who have been diagnosed with cancer in the axillary lymph nodes but with no evidence of breast cancer on mammogram/ultrasound. 
  • Mammograms may be difficult to interpret in case of extremely dense breasts. 

Metastatic workup in breast cancer

The common sites for the spread of breast cancer are lung, bone(especially long bones and vertebrae), and liver. The following tests are performed when patient is symptomatic for metastasis or in order to rule out metastasis. 

Determining whether a patient is metastatic or not is important in determining prognosis, and the line of management. 

Chest X-Ray– To look for lung metastasis,  pleural effusion and secondaries in the rib; CT scan is more reliable than chest X-ray in determining these findings. 

Ultrasound abdomen-to look for liver Mets, ascites and krukenberg tumour.

Radioisotope bone scan- It is done to look for secondaries in bone. Healed fractures, osteoarthritis may show hot spots on bone scan- bone biopsy in these suspected areas helps in confirming the diagnosis.

Xray/MRI spine and pelvis-performed to look for secondaries in the vertebrae and pelvic bones. 

Vertebral collapse due to mets, seen on MRI spine

CT brain- to look for secondaries in the brain. 

A brief overview of hormone receptor status

Immunohistochemistry is used to study the receptor status of the tissue. 

Estrogen receptors are cytosolic glycoproteins present in breast and tumour tissue. It is an important prognostic indicator. It is assessed by quantitative analysis. Postmenopausal women have higher rates of estrogen positive status than premenopausal women. 

If patient is ER positive it indicates a better prognosis than those with negative status. 

Endocrine therapy such as tamoxifen are much more useful in ER positive cases than those with negative ER status.

Estrogen receptor positive slide
HER2 positive slide

HER2 status is determined by FISH technique or IHC. HER2 positivity is associated with poor prognosis and is treated using monoclonal antibodies such as Trastuzumab.

Triple negative breast cancers have all three receptors (estrogen/progesterone/HER2 receptors) as negative.
These tumours have poor prognosis and lack targeted therapy. 

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