Clinical Evaluation of a 35-Year-Old

Pregnant Woman with Breast Lump And

Significant Family History of Breast Cancer

Dr Valentina Daniel
December 2024
OUTLINE
 Overview
 Clinical Evaluation
 Differential Diagnoses
 Hormonal Influences During Pregnancy
 Risk Stratification
 Key Challenges In Evaluation
 Management And Treatment Options
 Guidelines
 Conclusion
 References

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OVERVIEW

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Pregnancy triggers unique changes in breast tissue to prepare
for lactation.
Higher circulating hormone levels drive these changes.

•Key Physiological Changes:

•Ductal and Lobular Growth: Significant development in

these structures.
Increased Vascularity: Enhanced blood flow to the breast
tissue.
Reduction in Stroma: Decrease in connective tissue
components.
•Clinical Implications

•Increased breast density due to these changes.

Challenges in clinical and radiological diagnosis of breast
masses associated with pregnancy and lactation.

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 A pregnancy-related breast disorder is defined as a
diagnosis made during pregnancy, within one year
post-partum or during lactation.
 - Most disorders are similar to those seen in non-
pregnant women.
 - Some conditions are unique to pregnancy and
lactation.
 - Almost always present as a palpable mass.
 - Often cause significant anxiety for the woman
and her family
 Breast cancer in pregnancy is rare but
requires prompt evaluation.
 Family history increases risk, especially with
BRCA mutations.
 Multidisciplinary approach is critical.1-Dec- 5
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CLINICAL EVALUATION

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HISTORY PHYSICAL
INVESTIGATIO
EXAMINATI N
TAKING ON

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History Taking
A thorough history is critical to guide clinical
suspicion and tailor the diagnostic process.
Personal and Obstetric History:
 Duration of pregnancy and gravidity/parity.
 Breast symptoms: onset, duration, and
progression of the lump, associated pain, nipple
discharge, or changes in skin appearance.
 Prior breast issues or interventions (e.g., cysts,
biopsies, surgeries).

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History Taking
 Pregnancy-Related Changes:
- Assess physiological breast changes.
 Family History:
-Detailed history of breast or ovarian cancer in first-
or second-degree relatives, including age of onset
and type of genetic mutations.
-Genetic testing results, if available (e.g., BRCA
mutation status).
 • Risk Factors: - Early menarche, late childbirth,
nulliparity, hormonal exposure, or previous
radiation exposure

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Physical examination
A systematic and gentle approach is essential, given
the sensitivity of breast tissue during pregnancy
• Inspection:
 o Symmetry of breasts, skin changes
(dimpling, erythema, peau d’orange), and nipple
alterations (retraction, discharge).
• Palpation:
 o Assess the lump’s location, size,
consistency, mobility, and tenderness.
 Examine axillary, supraclavicular, and
infraclavicular lymph nodes for enlargement or
fixation.

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Investigations
• Imaging:
 - Ultrasound: First-line for lump characterization.
 - Mammography: If suspicious, with shielding.
• Biopsy:
 - Core needle biopsy preferred for histology.
 - Fine-needle aspiration if necessary.
 Genetic Testing:
 Patients with a strong family history may benefit
from genetic counseling and testing (e.g., BRCA
mutations).
 Genetic results can influence treatment planning
and inform risk-reduction strategies postpartum.

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Biopsy Techniques
 Definitive diagnosis requires tissue sampling:
a) Fine Needle Aspiration (FNA): Useful for
distinguishing cystic versus solid masses
b) Core needle biopsy: preferred for histological
diagnosis; can be performed under ultrasound
guidance.
Provides information on tumor grade, receptor
status (ER, PR, HER2).

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DIFFERENTIAL
DIAGNOSES

Pregnancy-related physiological changes can

complicate the differentiation between benign
and malignant conditions

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Benign Conditions:
 o Fibroadenomas (often hormone-sensitive).
 o Cysts or galactoceles (milk-filled cysts).
 o Mastitis or abscess (associated with infection
and inflammation).
Malignant Lesions:
 o Pregnancy-associated breast cancer (PABC)
defined as cancer diagnosed during pregnancy or
within the first postpartum year

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HORMONAL
INFLUENCES DURING
PREGNANCY

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 a) Key Hormonal Changes
 b) Physiological Effects on the
Breast
 c) Impact on Breast Lumps
 d) Diagnostic Challenges
 e) Management Considerations

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KEY HORMONAL CHANGES

 - Estrogen: Promotes ductal growth,

vascularization, and stromal proliferation.
 - Progesterone: Stimulates lobuloalveolar
development and fluid retention.
 - hCG: Supports glandular tissue growth.
 - Prolactin: Enhances alveolar development for
lactation.
 - Relaxin: Softens connective tissue as part of
pregnancy adaptations

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Physiological Effects on the
Breast
 - Increased size and density due to
glandular and stromal proliferation.
 Breast tenderness and sensitivity caused by
hormonal effects and fluid retention.
 - Changes in the nipple and areola (e.g.,
pigmentation, enlargement, prominent
Montgomery glands).
 - Increased vascularity leading to visible
veins under the skin.

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Impact on Breast Lumps

 - Benign Conditions: Hormonal stimulation

can lead to fibroadenomas, cysts, and
galactoceles.
 - Malignant Tumors: May become noticeable
due to increased surveillance but are less
influenced by pregnancy hormones.

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Diagnostic Challenges:

 - Hormonal changes increase breast density,

complicating imaging interpretation.
 - Physiological nodularity or engorgement can
mimic pathological lumps.

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Management
Considerations
 - Hormone receptor status (e.g., ER/PR) is critical
in managing pregnancy-associated breast cancer
(PABC).
 - Timing of interventions depends on pregnancy
stage and associated hormonal influences.

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RISK STRATIFICATION
Using the Gail Model

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 The Gail Model is a statistical tool developed to
estimate a woman's 5-year and lifetime risk of
developing breast cancer.
 It is used for risk stratification, enabling clinicians to
identify individuals at high risk and tailor screening or
preventive interventions accordingly

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 KEY FEATURES OF THE GAIL MODEL

Risk Factors Included in the Model:

 Age: The older a woman, the higher her baseline risk.
 Age at Menarche: Early onset of menstruation (<12 years) is
associated with increased risk.
 Age at First Live Birth: Delayed childbirth (>30 years) elevates
risk.
 Family History: Presence of breast cancer in first-degree
relatives (mother, sister, daughter).
 History of Breast Biopsies:
 Number of biopsies performed.
 Presence of atypical hyperplasia in biopsy results
 Race/Ethnicity: Adjustments for risk based on demographic
factors.
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Use of the Gail Model in Clinical Practice
1. Risk Stratification:
2. Personalized Screening
3. Preventive strategies
4. Genetic counselling referral

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Use of the Gail Model in Clinical Practice
1. Risk Stratification:
 o Women with a 5-year risk ≥ 1.66% (high-risk
threshold) are considered candidates for enhanced
screening or preventive strategies.
2. Personalized Screening:
 o High-risk individuals may benefit from earlier
and more frequent mammography or breast MRI.

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3. Preventive Strategies:
 o Chemoprevention: Medications such as
tamoxifen or raloxifene for women at high risk.
 o Lifestyle Modifications: Recommendations
for weight management, physical activity, and
alcohol reduction.
4. Genetic Counseling Referral:
 Women with significant family history or elevated lifetime
risk may require additional evaluation for genetic mutations
(e.g., BRCA1/2).

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KEY CHALLENGES IN
EVALUATION
1. Diagnostic Challenges During Pregnancy
2. Balancing Fetal and Maternal Health
Considerations

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KEY CHALLENGES IN
EVALUATION
Diagnostic Challenges During Pregnancy
Pregnancy introduces unique complexities to the
evaluation of breast conditions:
 • Physiological Changes Masking Pathology
 • Limitations of Imaging
 • Biopsy Considerations
 • Overlapping Symptoms

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 • Physiological Changes Masking
Pathology:
 o Hormonal changes during pregnancy
cause breast engorgement, increased density, and
nodularity, which can mimic or obscure
pathological findings.
 o Benign conditions such as galactoceles,
fibroadenomas, or mastitis may present similarly
to malignant lumps.

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 Limitations of Imaging:
 o Mammography: Increased breast density in
pregnancy reduces sensitivity for detecting
abnormalities.
  Use is limited due to concerns about fetal
radiation exposure, though it can be performed with
abdominal shielding when necessary.
 o Ultrasound: Preferred first-line modality
but may have difficulty differentiating certain benign
and malignant lesions.

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 Biopsy Considerations:
 o Pregnancy-related hypervascularity
increases the risk of bleeding during procedures.
 o Delays in obtaining histopathology results
can occur due to prioritization of non-invasive
diagnostic approaches initially

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Overlapping Symptoms:
 o Symptoms such as tenderness, swelling,
or nipple discharge, which are common in
pregnancy, can delay recognition of malignancy.

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KEY CHALLENGES IN
EVALUATION
 2. Balancing Fetal and Maternal Health
Considerations
i. Diagnostic Safety
ii. Timing of Treatment
iii. Emotional and Psychological Considerations
iv. Maternal-Fetal Monitoring

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 Diagnostic Safety

o Ensuring that imaging and biopsy techniques

are safe for the fetus while minimizing delays in
maternal diagnosis.
o Avoiding teratogenic procedures during the
first trimester

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Timing of Treatment:
 o Surgery and chemotherapy can often be
performed during pregnancy, but their timing must
align with fetal development stages:
  Surgery is safest during the second trimester
to minimize risks to the fetus.
  Chemotherapy is typically avoided during the
first trimester but may be administered in the second
or third trimesters.
 o Radiation therapy is contraindicated during
pregnancy due to fetal harm

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Emotional and Psychological Considerations:
 o Maternal anxiety regarding the potential
impact of diagnostic or therapeutic interventions on
fetal health.
 o Challenges in counseling the patient and
family about complex, risk-laden decisions.

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Maternal-Fetal Monitoring:
 o Ensuring regular fetal monitoring to
detect any complications from diagnostic or
treatment interventions.
 o Coordinating care among obstetricians,
oncologists, and surgeons to prioritize outcomes
for both mother and child.

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MANAGEMENT AND
TREATMENT OPTIONS

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 Multidisciplinary Team Approach
 Management of Benign Conditions
 Management of Malignant Conditions
 Timing of Delivery and Postpartum Care
 Psychological and Emotional Support
 Follow-Up and Long-Term Care

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1. Multidisciplinary Team Approach

A collaborative team ensures comprehensive care:

 • Obstetricians: Oversee maternal and fetal
health.
 • Oncologists: Guide cancer treatment
strategies if malignancy is confirmed.
 • Surgeons: Perform biopsies and surgical
interventions.
 • Genetic Counselors: Assess hereditary risk
and discuss genetic testing.
 • Psychologists: Provide emotional support
and counseling.

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2. Management of Benign Conditions

 • Fibroadenomas:
 o Monitor if asymptomatic; surgical excision
may be considered if the lump grows rapidly or
causes discomfort.
 • Cysts/Galactoceles:
 o Aspirate for symptomatic relief; no further
treatment required if findings are benign.
 • Mastitis/Abscess:
 o Treat with antibiotics and drainage if
necessary; continue breastfeeding unless
contraindicated.

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3. Management of Malignant
Conditions
 Pregnancy-associated breast cancer (PABC) is
treated similarly to non-pregnant patients, with
modifications to protect the fetus.
i. Surgery
ii. Chemotherapy
iii. Radiotherapy
iv. Hormonal therapy

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(I) Surgery
 • Preferred primary treatment for localized
breast cancer.
 • Timing: Safely performed during the
second trimester to minimize risks to fetal
development.
 • Options:
 o Lumpectomy with sentinel lymph node
biopsy (SLNB) is feasible with limited radioactive
tracer use.
 o Mastectomy may be necessary for larger
tumors or if radiation is contraindicated

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(II) Chemotherapy
 • Indications: For systemic disease or after
surgery in cases requiring adjuvant treatment.
 • Timing:
 o Contraindicated in the first trimester due
to teratogenic risks.
 o Safe for use in the second and third
trimesters with agents like anthracyclines (e.g.,
doxorubicin).
 • Agents to Avoid: Methotrexate and
targeted therapies (e.g., trastuzumab) during
pregnancy.

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(III) Radiation Therapy
 • Contraindicated during pregnancy due to
fetal harm from ionizing radiation.
 • Considered postpartum if indicated.
(IV) Endocrine Therapy
 • Hormonal therapies (e.g., tamoxifen) are
contraindicated during pregnancy but may be
initiated postpartum.

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4. Timing of Delivery and
Postpartum Care

 • Delivery timing is individualized based on

cancer progression and gestational age:
 o Aim to reach fetal maturity (≥37 weeks)
unless maternal health necessitates earlier delivery.
 • Postpartum treatments:
 o Complete any deferred therapies, such as
radiation or endocrine therapy.
 o Breastfeeding may not be advisable during
chemotherapy or targeted therapies.

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5. Psychological and Emotional
Support
 • Address maternal anxiety about potential
harm to the fetus.
 • Provide clear, empathetic communication
about the diagnosis and treatment plan.
 • Offer support groups and counseling for
emotional resilience.

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6. Follow-Up and Long-Term Care

 • Regular postpartum surveillance for disease

recurrence.
 • Genetic counseling for risk assessment and
potential testing for mutations (e.g., BRCA1/2).
 • Encourage lifestyle modifications, including
maintaining a healthy weight and avoiding smoking or
alcohol, to reduce recurrence risk.

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GUIDELINES

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 International organizations provide evidence-based
recommendations to guide the diagnosis and
management of breast conditions during pregnancy.
 Key guidelines include:
 1. NCCN Guidelines (National Comprehensive Cancer
Network). [Link]

 2. ASCO Guidelines (American Society of Clinical

Oncology) [Link]

 3. ESMO Guidelines (European Society for Medical

Oncology) [Link]

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 • NCCN Guidelines: - Breast ultrasound as
first-line, biopsy for suspicious findings.
 • ASCO Guidelines: - Genetic testing for
high-risk individuals.
 • ESMO Guidelines: - Emphasize
multidisciplinary management in pregnancy.

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CONCLUSION

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• Early diagnosis through ultrasound is key for
distinguishing benign from malignant breast lumps in
pregnancy.
• A multidisciplinary team approach ensures safe,
effective management.
• Surgery is preferred for localized tumors;
chemotherapy is safe in the second and third trimesters.
• Genetic testing is important for high-risk individuals.
• Guidelines from NCCN, ASCO, and ESMO support
evidence-based care.
• Treatment balances maternal health and fetal safety.
• Emotional support and clear communication are vital
for the patient's well-being

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REFERENCES
 1. Gail MH, et al. Projecting individualized probabilities of developing breast
cancer for white females who are being examined annually. J Natl Cancer Inst.
1989;81(24):1879-86.
 2. Peccatori FA, et al. Cancer, pregnancy and fertility: ESMO Clinical Practice
Guidelines for diagnosis, treatment, and follow-up. Ann Oncol. 2013;24(Suppl 6):vi160-
70.
 3. National Comprehensive Cancer Network. Breast Cancer Guidelines. National
Comprehensive Cancer Network. Available from: [Link]
 4. Robson ME, et al. American Society of Clinical Oncology Policy Statement
Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol.
2020;38(15):1625-45.
 5. American College of Obstetricians and Gynecologists, Committee Opinion No.
809. Breast Cancer in Pregnancy. Obstet Gynecol. 2020.
 6. Lopez MR, et al. Breast Cancer in Pregnancy: A Comprehensive Review of
Management and Outcomes. Breast J. 2013;19(5):558-66.
 7. Baskar R, et al. Cancer and Pregnancy: An Overview of Management
Challenges and Guidelines. J Obstet Gynaecol Res. 2012;38(5):788-98.
 8. Royal College of Obstetricians and Gynaecologists, Scientific Impact Paper No.
53. Management of Cancer in Pregnancy. 2016. Available from: [Link]

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THANK YOU FOR LISTENING

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