A TEN YEARS RETROSPECTIVE EXPERIENCE AT SHAUKAT KHANUM MEDICAL HOSPITAL.
DR MEHRIA KHAN,
DR MAMOONA MURAD,
DR FATIMA SULTAN AHMAD,
DR ZAINAB RAHIM,
INTRODUCTION:
The American Cancer Society (ACS) recommends that women with a BRCA1 or BRCA2[i] gene mutation undergo annual breast MRI and clinical breast exams, and that women with a high risk of carrying a BRCA mutation be offered genetic testing. There is an essential role for screening MRI in women with an increased risk for breast cancer. Women with a BRCA mutation, annual Magnetic Resonance Imaging MRI screening should begin by age 25, and be combined with mammograms starting at age 30. [ii], [iii]
Epidemiological patterns of breast cancer[iv] in our local settings are shifting with a trend of presentation in younger female patients who are having more dense breasts. The sensitivity of MRI with annual surveillance still ranges from 71% to 94%. This relatively wide sensitivity range may be due to the false-negative diagnoses of hereditary breast cancers that appear atypical and benign in nature, in contrast to sporadic cancers, at mammography, breast sonography, and MRI.[v]
We would like to study the varying radiology features on ultrasound, mammography and MRI in histopathologically proven breast carcinoma patients having associated BRCA genetic mutation, in our institution to possibly formulate working guidelines apt to our low and middle income country.
OBJECTIVES:
The purpose of this study is to retrospectively evaluate the varying radiology features on ultrasound, mammography and MRI in histopathologically diagnosed breast carcinoma patients with the BRCA genetic mutation.
STUDY DESIGN: retrospective observational, cross-sectional study.
DEPARTMENT: Department of Diagnostic Radiology in collaboration with Pathology Department of Shaukat Khanum Memorial Hospital.
SAMPLING: Purposeful sampling
DURATION OF STUDY: After ethical approval, two months duration for Retrospective data collection to be retrieved from Hospital Management Information System dated from July 2025 to January 2015.
ETHICAL CONSIDERATION: After ethical approval by Institutional Ethical Review Board/ Research Committee. Individual consent forms would be waived in accordance to Decleration of Helsinki.
INCLUSION CRITERIA: Biopsy proven breast cancer patients radiologically imaged at Shaukat Khanum Memorial Hospital with BRCA genetic mutation testing.
Patients of both genders.
EXCLUSION CRITERIA: Patients testing positive with BRCA genetic mutation, but presented for screening purposes.
METHODS:
All patients testing positive for BRCA genetic mutation, any subtype or collectively both subtypes, using next generation sequencing technology panel.
Biopsy proven breast cancer patients who had underwent mammography performed by a Mammomat 3000 Nova Siemens mammography machine, and ultrasound examinations using Aplio Toshiba technology, categorized by Breast Imaging-Reporting and Data System (BI-RADS) assessment categories. Magnetic Resonance Imaging using 1.5 or 3 Tesla unit machine with multiplanar multisequential imaging techniques.
Details of imaging would include size, site, number and morphological characteristics of histopathology subtype, grade of tumour and include various imunohistochemistry markers. of lesions, and axillary nodal involvement details.
The details of tumour specimen would include histopathology subtype, grade of tumour and various imunohistochemistry markers.
DATA ANALYSIS: For data analysis SPSS version 23 would be used. Descriptive statistics to summarise frequencies and percentages of various categorical variables like BRCA genetic mutation subtype, site and morphological characteristics of lesions, axillary nodal status, histopathology subtype, grade of tumour and various imunohistochemistry markers.
The mean, median mode would be calculated for numeric values of age of patients and tumour size calculated in millimeter. Inferential statistics would be applied accordingly.
CONFLICTS OF INTEREST: None
FUNDING SOURCE: Not Applicable
[i] Krammer J, Pinker-Domenig K, Robson ME, Gönen M, Bernard-Davila B, Morris EA, Mangino DA, Jochelson MS. Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2017 Jun;163(3):565-571. doi: 10.1007/s10549-017-4198-4. Epub 2017 Mar 25. PMID: 28343309; PMCID: PMC5490380.
[ii] Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, et al. Clinical practice guidelines for BRCA1 and BRCA2 genetic testing. Eur J Cancer. 2021 Mar;146:30-47. doi: 10.1016/j.ejca.2020.12.023. Epub 2021 Feb 10. PMID: 33578357.
[iii] Granader EJ, Dwamena B, Carlos RC. MRI and mammography surveillance of women at increased risk for breast cancer: recommendations using an evidence-based approach. Acad Radiol. 2008 Dec;15(12):1590-5. doi: 10.1016/j.acra.2008.06.006. PMID: 19000876.
[iv] Badar F, Mahmood S, Faraz R, Quader AU, Asif H, Yousaf A. Epidemiology of Breast Cancer at the Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Pakistan. J Coll Physicians Surg Pak. 2015 Oct;25(10):738-42. doi: 10.2015/JCPSP.738742. PMID: 26454390.
[v] Kuhl CK, Schmutzler RK, Leutner CC, Kempe A, Wardelmann E, Hocke A, Maringa M, Pfeifer U, Krebs D, Schild HH. Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology. 2000 Apr;215(1):267-79. doi: 10.1148/radiology.215.1.r00ap01267. PMID: 10751498.
REFERENCES:
[1] Krammer J, Pinker-Domenig K, Robson ME, Gönen M, Bernard-Davila B, Morris EA, Mangino DA, Jochelson MS. Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2017 Jun;163(3):565-571. doi: 10.1007/s10549-017-4198-4. Epub 2017 Mar 25. PMID: 28343309; PMCID: PMC5490380.
[1] Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, et al. Clinical practice guidelines for BRCA1 and BRCA2 genetic testing. Eur J Cancer. 2021 Mar;146:30-47. doi: 10.1016/j.ejca.2020.12.023. Epub 2021 Feb 10. PMID: 33578357.
[1] Granader EJ, Dwamena B, Carlos RC. MRI and mammography surveillance of women at increased risk for breast cancer: recommendations using an evidence-based approach. Acad Radiol. 2008 Dec;15(12):1590-5. doi: 10.1016/j.acra.2008.06.006. PMID: 19000876.
[1] Badar F, Mahmood S, Faraz R, Quader AU, Asif H, Yousaf A. Epidemiology of Breast Cancer at the Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Pakistan. J Coll Physicians Surg Pak. 2015 Oct;25(10):738-42. doi: 10.2015/JCPSP.738742. PMID: 26454390. [1] Kuhl CK, Schmutzler RK, Leutner CC, Kempe A, Wardelmann E, Hocke A, Maringa M, Pfeifer U, Krebs D, Schild HH. Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology. 2000 Apr;215(1):267-79. doi: 10.1148/radiology.215.1.r00ap01267. PMID: 10751498.