Case one:

Amanda, aged 27 years, is a photographer who presents for a Pap test and renewal of her contraceptive pill prescription. She is single but in a long term relationship and has recently returned to Australia after 5 years working overseas.

Her past medical history is unremarkable. While taking her history, you discover that Amanda's mother, Sue, actually made the appointment on Amanda's behalf as she is worried that Amanda has not been having regular health checks, particularly breast checks, while overseas. Sue had a mastectomy for breast cancer at age 52 years and is concerned about the implications for her daughter.

Amanda complains of some cyclical mastalgia and engorgement for which she occasionally takes evening primrose oil.

Breast examination reveals generally lumpy breasts.

Further history

You do not see Amanda until 4 years later when she presents concerned about a slightly tender, more prominent lumpy area in her left breast. She is now 31 years of age and lives with her long term partner. She is currently using condoms for contraception. Her problems with cyclical mastalgia and breast engorgement have improved a little since she stopped taking the contraceptive pill 2 years ago.

Breast examination reveals nodular lumpy breasts and a more prominent area of thickening in the upper outer quadrant of the left breast, measuring 3 x 2 cm but poorly defined.

Further history

The ultrasound, mammogram and magnified images of the area of concern are reported as indeterminate (Category 3) by your local radiologist and biopsy is recommended. You refer Amanda to the local breast surgeon and core biopsy reveals invasive lobular carcinoma.

You receive a phone call from a very distressed Sue. Among the many concerns she voices, her two main fears are that Amanda will die because young women with breast cancer 'do badly' and that even if she survives, she will not be able to have children.

Further history

Amanda and her partner come to see you on the eve of her surgery. They have discussed her treatment options with her breast surgeon but want to discuss her choice of treatment with you.

Sue encourages Amanda to have a mastectomy (as she had). Amanda is aware that breast reconstruction is available, but has read that breast conserving surgery plus radiotherapy is as effective as mastectomy. Sue maintains that radiotherapy will put her at risk of lymphoedema.

Answer 1

You need to take a full family history to confirm that Sue is the only relative affected. If so, then Amanda's risk is at or slightly above the average risk: 1 in 12 to 1 in 8 lifetime risk (see Appendix 1).

As is the case with all women, Amanda should be 'breast aware' and return for review promptly should she detect any breast changes.

Lifestyle factors are relevant and you counsel Amanda about a healthy diet, exercise, smoking and alcohol. Current or recent use of the combined oral contraceptive pill is associated with a slightly increased risk of breast cancer but must be weighted against the risk of an unwanted pregnancy.

Feedback

For younger women, a strong family history of breast cancer is one of the most important risk factors. That means a history of breast cancer affecting one or more first degree relatives, particularly if the affected relative was less than 50 years of age at diagnosis. However, most young women who develop breast cancer do not have a family history.

There is no evidence of excess breast cancer risk 10 or more years after the cessation of oral contraceptive use, despite the slightly increased risk in current or recent users.

Answer 2

Ultrasound is recommended as the first imaging modality in women aged less than 35 years. The glandular density may obscure lesions on mammography. The combination of mammography and ultrasound improves imaging accuracy in young women.

Mammography should be used in addition to ultrasound if the:

• clinical findings are suspicious or malignant
• ultrasound findings are indeterminate, suspicious or malignant
• ultrasound findings are not consistent with the clinical findings

A proportion of breast cancers in young women do not exhibit features of malignancy on either mammogram or ultrasound. The triple test increases the accuracy of diagnosis to 99-100% and biopsy, either FNAC or core, is essential in young women presenting with a palpable mass, even if the imaging is suggestive of a benign condition such as a fibroadenoma (see Appendix 2).

Feedback

Most young women with breast cancer present with symptoms. While some younger women may delay presenting with breast symptoms, evidence suggests that it is more often delayed referral for assessment of the breast symptom by the patient's treating doctor that is the key factor in delayed diagnosis. This may be attributable in some cases to the belief that the patient is too young to have breast cancer. More often it may result from falsely reassuring clinical or imaging findings.

Mammography has much lower accuracy in women aged less than 40 years, partly because the greater tissue density may obscure lesions and partly because some breast cancers in young women don't exhibit typical malignant features on mammography.

A proportion of cancers in young women will also exhibit benign features, eg. features typical of fibroadenoma on ultrasound. This has been reported as high as 10% in one Australian study.

All three components of the triple test (clinical examination, imaging and biopsy) are necessary to accurately diagnose palpable breast lumps in young women.

Answer 3

Women less than 40 years of age diagnosed with breast cancer have a much lower survival rate than middle aged patients. Age is an independent prognostic factor along with tumour size and lymph node status. Statistics from the Australian Institute of Health and Welfare show a 5 year survival rate for women aged less than 40 years as 75% compared to 86% for women aged 40-69 years at diagnosis. Early detection and appropriate treatment is therefore crucial.

Breast cancer treatment in young women includes a combination of surgery, radiotherapy and chemotherapy. Women with hormone receptor positive tumours will also be offered HT such as tamoxifen. Women in whom the HER2 receptor is over expressed may be offered adjuvant trastuzumab (Herceptin) therapy.

Amanda should not become pregnant while undergoing radiotherapy, chemotherapy, tamoxifen or Herceptin therapy. Chemotherapy is usually recommended for women aged less than 40 years because the absolute benefit they gain from chemotherapy is greater than for older women.

The risk of menopause increases with increasing age and the intensity of chemotherapy. At age 31 years, the risk is less than 20%.

Feedback

Concerns about fertility following treatment are common, but options for preserving fertility currently are limited. While embryo harvest and storage is technically possible via in vitro fertilisation, only a very small number of successful pregnancies have been reported. The risk of the administration of large doses of hormones and the potential delay to commencing radiotherapy or chemotherapy must be considered. At present, the storage of ovarian tissue or unfertilised eggs for later use is not successful.

Answer 4

There are several factors that need to be considered when considering breast conserving surgery versus mastectomy. These include:

• the size of the cancer in comparison to the size of the breast
• the position of the tumour
• young age is an independent risk factor for recurrence

Axillary surgery is also quite complex. Sentinel node biopsy (SNB) is increasingly becoming the treatment of choice in early breast cancer with the aim of reducing postsurgical morbidity, especially lymphoedema. It has been shown to provide accurate assessment of the status of the axilla and the short term morbidity is better than for an axillary clearance, however, the long term outcomes are not yet known.

Breast conserving surgery and axillary assessment followed by radiotherapy to the breast carries no more risk of lymphoedema than mastectomy and axillary assessment.

A mastectomy would not necessarily avoid radiotherapy. In women at high risk of locoregional recurrence, eg. those with four or more involved lymph nodes or with large cancers, postmastectomy radiotherapy is recommended as it can produce a moderate reduction in long term breast cancer mortality.

Younger women may report more arm symptoms following axillary dissection and/or radiotherapy. These may include pain, oedema, loss of strength, stiffness and numbness. Lymphoedema can occur at any stage, even years after treatment. The predisposing factors are not understood. There is no evidence, however, to confirm age as a risk factor for the development of lymphoedema.

Feedback

The immediate and long term care of young women with breast cancer is complex. They have a higher risk of significant psychological distress, concerns about body image, feeling socially isolated and stigmatised. Depression is common up to 3 years post-treatment.

Young women are more likely to opt for breast reconstruction following mastectomy.

Chemotherapy is more commonly recommended to young women because of their higher risk of recurrence.

Premenopausal women are more vulnerable to weight gain during and following treatment. Those who develop amenorrhoea are at risk of rapid bone loss.

A multidisciplinary approach is optimal for these women and access to a multidisciplinary team will vary depending on the location. Consideration of surgical, including possible reconstruction, radiotherapy and oncology treatment options, and supportive and psychological care need to be considered before treatment is initiated. General practitioners can play a vital coordinating and supporting role.