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Liliane ollivier : Breast MR Imaging in Women with High Genetic Risk
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Liliane ollivier : Breast MR Imaging in Women with High Genetic Risk

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  • 1. Breast MR Imaging in Women with High Genetic Risk Liliane Ollivier Institut Curie- Paris France ICIS International Cancer Imaging Society Marie Curie
  • 2. High-genetic risk of breast cancer •  Patients with mutations : – BRCA1/ BRCA2 (BReast CAncer) – Rare : –  TP53 : Li-Fraumeni –  PTEN : Cowden disease –  STK11 : Polypose de Peutz-Jeghers •  Patient without mutations : – Familial history of breast and/or ovarian cancer – Mediastinal irradiation in childhood for Hodgkin disease
  • 3. BRCA1 and BRCA2 gene mutation •  High risk of developing breast and ovarian cancer –  Lifetime risk in BRCA1 •  Breast cancer : 65% •  Ovarian cancer : 10% •  Breast cancer in young women : 40% at age 40 years –  Lifetime risk in BRCA2 : •  Breast cancer : 45% •  Ovarian cancer : 7% •  Breast cancer in men Intra-ductal carcinoma in a man BRCA2 40 years old
  • 4. 0 5 10 15 20 25 30 35 40 Riskofbreastcancer(%) 20-29 30-39 40-49 50-59 60-69 Absolute Risk per decade General population BRCA1 BRCA2
  • 5. BRCA1 and BRCA2 gene mutation •  Prophylactic surgery : at age 40 in BRCA1/ 50 in BRCA2 –  Bilateral prophylactic mastectomy : •  Reduce the risk ok breast cancer by 90% –  Bilateral prophylactic oophorectomy : •  Reduce the risk of ovarian cancer by 96 % •  Reduce the risk of breast cancer by 50% •  Close surveillance : beginning at age 30 or even younger –  Physical examinations every 6-12 months –  Annual screening : MRI, mammography +/- ultrasound MRI should be integrated into surveillance programs
  • 6. BRCA1 and BRCA2 gene mutation •  Particular features of BRCA1/BRCA2 : Histopathology : Invasive carcinoma •  Poorly differenciated, High nuclear grade •  Medullar carcinoma •  Triple negative (Hormonal receptor, Her2 negative) •  Basal like phenotype (CK5, 6+, p53+, EGFR +) Ductal carcinoma in situ : •  Rare •  High grade +++ P53 + CK 5, 6 +
  • 7. BRCA1 and BRCA2 gene mutation Particular features of BRCA1/2 : Mammography and ultrasound •  Benign morphologic features •  Round or oval shape •  Circumscribed or smooth margins •  Mimicking cysts or fibro-adenomas •  Location : •  Posterior part of the breast •  Particularly the immediate pre pectoral region
  • 8. BRCA1 and BRCA2 gene mutation Particular features of BRCA1/2 : Breast-MRI 1.  Mass : •  Benign morphologic features •  Round shape •  Smooth margins • Location : •  Posterior part of the breast •  Particularly the immediate pre pectoral region •  Malignant kinetic features •  Rim enhancement •  Early intense contrast uptake •  Washout phenomenon
  • 9. BRCA1 and BRCA2 gene mutation Particular features of BRCA1/2 : Breast-MRI 2. Focus: •  Particularly in forbidden areas : • Pre-pectoral area • Inner quadrants 3. Non-mass-like enhancements : •  With features suggestive for malignancy : • Asymmetric, heterogeneous, clumped • Ductal or segmental distribution Invasive carcinoma Ductal carcinoma c
  • 10. T1 1st subtracted image 1st subtracted image Second look US Invasive ductal carcinoma MR finds a spiculated mass Second look US with biopsy = invasive ductal carcinoma
  • 11. 3 MIN 6 MIN
  • 12. Lymphocytes Tumoral cells BRCA 2 carrier Medullar carcinoma
  • 13. 2. Others Mutations •  Li-Fraumeni Syndrome (TP53) :•  Autosomal dominant pattern •  Increase the risk of developing several types of cancer •  Particularly in children and young adults •  Breast cancer •  0steosarcomas and cancers of soft tissues •  Leukemias •  Brain tumors •  Adrenocortical carcinoma •  Lung carcinoma Breast Invasive carcinoma associated with lung adenocarcinoma Others Mutations Li-Fraumeni Syndrome (TP53) :
  • 14. Follow-up In France •  Organized system –  Money from the National Health System –  Optimal geographic network •  72 towns, 107 consultation sites –  Quality control => Accreditation of centers •  Annual activity report (laboratories, consultations) –  Free genetic tests for women –  Patients enrolled in trials or specific programs
  • 15. When ? •  At 30 year- old? •  Before 30 year-old –  p53 mutation –  Family history (cancers at very young ages) –  Thoracic Irradiation •  Surveillance starts 8 years after the end of RXT
  • 16. How? •  Every year •  MRI (same sequences), Mx ± US (3 examinations at the same period) •  Additional value of a specific program •  In women without mutation, –  annual MRI is added based on –  a probability value > 40% –  or lifetime risk > 30% •  (ACS recommendation: lifetime risk > 20-25%)
  • 17. •  Gene carrier BCRA 1 ou 2, p53, PTEN, STK11 •  Non tested women with a gene mutation in the family at a first degree •  Non tested or negative women family history of breast or ovary cancer with a risk calculated > 20-25% onco- genetic consultation +++ •  High breast density ?(ACS) •  Previous history of thoracic radiotherapy before 30 Who?
  • 18. Stop ? •  No limitation concerning age…? •  Economical considerations •  UK: 45 years, •  The Netherlands: 55 years •  Annual screening is highly anxiogenic
  • 19. Is Mammography Useful ? •  Additional value of Mx to MRI in most of published prospective trials •  Benefit of Mx in BRCA mutation carriers ? –  YES at age 35 or older –  0 or SMALL at age 30-34 years (4 views/year at 25- 29 years) •  European recommendation : starting Mx at 36 years
  • 20. DCIS Warner Kuhl Netherl MARIBS % 27% 22% 12% 17% MRI 67% 89% 17% 33% Mammo 50% 33% 83% 83% BRCA1 DCIS, High Grade
  • 21. Interpretation of MRI •  Clinical background +++ •  Phase of cycle may modify images •  Physiological parenchymal enhancement •  Enhancing benign structures Intramammary lymph node •  Already known benign enhancement enhancement after conservative treatment Pitfalls and benign anomalies
  • 22. Parenchymal enhancement •  New ITEM in BI-RADS-MRI 4 Categories Minimal < 25% Mild 25-50% Moderate* 50-75% Marked* >75%
  • 23. Symetric –  Diffuse homogeneous –  Diffuse heterogeneous •  punctiform (foci) •  around the gland •  regional •  multiple micronodules Asymetric Causes of false positive or false negative (mask) Parenchymal enhancement
  • 24. Changes after therapy personal history of left breast carcinoma Right Breast : ACR2 benign fat necrosis Left breast : ACR1 Cytosteatonecrosis : • Fat center (high signal in T1 and low signal in T1 fat suppressed) • +/- Rim enhancement • Patient previously treated
  • 25. Normal MRI Mammograms Normal Cluster of Ca + = Complete Workup Comparison /previous Mx, US? Recommendation based on Mx findings * If US performed, only pick up very suspicious findings STOP
  • 26. Abnormal MRI Targeted MX, US Non mass- like Enhancement Search Ca+ on Mx (Magnification views) Mass enhancement Search lesion especially at US Clinical BGround Menstrual Cycle Treated breast Prophyl. oorophorectomy Compare with previous Exam
  • 27. •  Mass •  Prepectoral location •  Round shape •  Smooth margins •  High signal on STIR •  Rim enhancement ACR 4 ? because of the location, and the context T1 STIR 54 years old BRCA1 mutation carrier Annual checking
  • 28. Second look ultrasound : Mass US-guided biopsy : invasive ductal carcinoma
  • 29. BCRA1, Treated right cancer, Prophyl. oorophorectomy 2013 2012 Progressive heterogeneous enhancement on successive examinations Negative Mammograms, US Mixed IDC and ILC, Grade II Triple negative MR- Guided Biopsies
  • 30. Key point •  Patients with mutation : –  Particular features of BRCA1 cancers : •  Benign morphologic features (round or oval shape, circumscribed, or non significative, glandular like enhancement, but very suspect in this case ) •  Location : posterior part of the breast, particularly the immediate prepectoral region •  Second look ultrasound : –  In more than 60% : a lesion is found with second look ultrasound –  If not, MR guided biopsy may be necessary
  • 31. T1 1st injected sequence 1° Subtracted image STIR 42years BRCA1 no personal history, first MRI Mass • Shape Oval • Margin irregular • Homogeneous enhancement • Curve type 1 Second look US, guided biopsy? US normal, MR biopsy ? Before, Have a look back at the mammogram
  • 32. • mammography-magnified shows cluster of microcalcifications Stereotactic biopsy High grade in situ
  • 33. Key point ACR4 enhancement with a negative targeted US Always do a mammography with magnification to search for microcalcifications In patients with mutation, in situ carcinomas are frequently of a high grade
  • 34. Woman 41 years old BRCA1 carrier Personal history of breast cancer at age 38: Invasive ductal carcinoma of right and left breast : Annual checking T1 STIR 1st injected sequence 1st subtracted sequence •  Isolated Focus 1. Second look ultrasound +/- biopsy 2. If no lesion in US, MR surveillance at 4 months
  • 35. May Increasing size of isolated focus ACR4 January MRI in 4 months Second look US with biopsy Invasive ductal carcinoma No lesion at second look US This time a nodule is found
  • 36. Key point •  Isolated focus in MRI : –  Second look ultrasound : •  Lesion visible : US-biopsy •  Lesion non visible : MR follow up 4 months later •  Importance of context : –  Personal history of breast carcinoma in a patient BRCA1 : suspect +++
  • 37. Mass • Ovale shape • Smooth margins • High signal in STIR • Homogeneous enhancement • but Wash out curve History of left breast invasive ductal carcinoma at age 31(mastectomy) Ultrasound : ACR4 a : - Oval shape - Circumscribed margins US guided biopsy : Fibroadenoma
  • 38. Mass • Irregular shape • Spiculated margins • Rim enhancement ACR5 One year later Invasive ductal carcinoma, grade III, triple negative, high mitotic index proliferation US guided biopsy
  • 39. Key point •  Possibility of interval cancer ( specially in BRCA1/BRCA2) •  Importance of annual checking : –  Clinical examination++ –  Imaging : MRI, mammography +/- ultrasound
  • 40. Conclusions •  Use the BIRADS lexicon •  Give a global ACR assessment for all imaging, avoid ACR 0… •  Always give recommendations for further patient management (targeted second look US, US-biopsy, MR-biopsy, surveillance…) •  Always use the conventional modalities first and second look •  Use subtracted images but also pre contrast images T1,T2 and first images after injection •  Beware of the technique: coil position and compression of the breast, try to have comparative examinations, date in the menstrual cycle…
  • 41. Conclusions •  Particular histological types •  Particular features of conventional and MR imaging mimmicking benign lesions •  Location in forbidden areas •  Interval cancers •  Special tight follow-up, women enrolled in a specific program •  Importance of clinical background, onco-genetic consultation

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