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

  1. 1. Breast MR Imaging in Women with High Genetic Risk Liliane Ollivier Institut Curie- Paris France ICIS International Cancer Imaging Society Marie Curie
  2. 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. 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. 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. 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. 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. 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. 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. 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. 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. 11. 3 MIN 6 MIN
  12. 12. Lymphocytes Tumoral cells BRCA 2 carrier Medullar carcinoma
  13. 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. 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. 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. 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. 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. 18. Stop ? •  No limitation concerning age…? •  Economical considerations •  UK: 45 years, •  The Netherlands: 55 years •  Annual screening is highly anxiogenic
  19. 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. 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. 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. 22. Parenchymal enhancement •  New ITEM in BI-RADS-MRI 4 Categories Minimal < 25% Mild 25-50% Moderate* 50-75% Marked* >75%
  23. 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. 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. 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. 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. 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. 28. Second look ultrasound : Mass US-guided biopsy : invasive ductal carcinoma
  29. 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. 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. 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. 32. • mammography-magnified shows cluster of microcalcifications Stereotactic biopsy High grade in situ
  33. 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. 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. 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. 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. 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. 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. 39. Key point •  Possibility of interval cancer ( specially in BRCA1/BRCA2) •  Importance of annual checking : –  Clinical examination++ –  Imaging : MRI, mammography +/- ultrasound
  40. 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. 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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