학술논문
MRI phenotypes associated with breast cancer predisposing genetic variants, a multisite review.
Document Type
Academic Journal
Author
Maimone S; Mayo Clinic Florida, Department of Radiology, Jacksonville, FL, USA. Electronic address: maimone.santo@mayo.edu.; Harper LK; Mayo Clinic Arizona, Department of Radiology, Phoenix, AZ, USA. Electronic address: Harper.Laura@mayo.edu.; Mantia SK; Mayo Clinic Florida, Department of Clinical Genomics, Jacksonville, FL, USA. Electronic address: Mantia.Sarah@mayo.edu.; Advani PP; Mayo Clinic Florida, Division of Hematology and Medical Oncology, Jacksonville, FL, USA. Electronic address: Advani.Pooja@mayo.edu.; Hochwald AP; Mayo Clinic Florida, Department of Biostatistics, Jacksonville, FL, USA. Electronic address: Hochwald.Alexander@mayo.edu.; Li Z; Mayo Clinic Florida, Department of Biostatistics, Jacksonville, FL, USA. Electronic address: Li.Zhuo@mayo.edu.; Hines SL; Mayo Clinic Arizona, Department of Internal Medicine, Phoenix, AZ, USA. Electronic address: Hines.Stephanie@mayo.edu.; Patel B; Mayo Clinic Arizona, Department of Radiology, Phoenix, AZ, USA. Electronic address: Patel.Bhavika@mayo.edu.
Source
Publisher: Elsevier Science Ireland Ltd Country of Publication: Ireland NLM ID: 8106411 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7727 (Electronic) Linking ISSN: 0720048X NLM ISO Abbreviation: Eur J Radiol Subsets: MEDLINE
Subject
Language
English
Abstract
Purpose: Examine MRI phenotypes of breast cancers arising in patients with various pathogenic variants, to assess for imaging trends and associations.
Method: Multisite retrospective review evaluated 410 patients from 2001 to 2020 with breast cancer and a predisposing pathogenic variant who underwent breast MRI at time of cancer diagnosis. Dominant malignant lesion features were reported, including lesion type (mass versus non-mass enhancement), size, shape, margin, internal enhancement pattern, plus other features. Kruskal-Wallis test, Fisher's exact test, and pairwise comparisons performed comparing imaging manifestations for the most frequent genetic results.
Results: BRCA1 (29.5 %) and BRCA2 (25.9 %) variants were most common, followed by CHEK2 (16.6 %), ATM (8.0 %), and PALB2 (6.3 %), with significant associated differences in race/ethnicity (p = 0.040), age at cancer diagnosis (p = 0.005), tumor shapes (p = 0.001), margins (p < 0.001), grade (p < 0.001), internal enhancement pattern (rim enhancement) (p < 0.001), kinetics (washout) (p < 0.001), and presence of necrosis (p < 0.001). CHEK2 and ATM tumors were often lower grade with spiculated margins (CHEK2: 47.1 %, ATM: 45.5 %), rarely exhibiting washout or tumor necrosis (p < 0.001), and were mostly comprised of luminal molecular subtypes (CHEK2: 88.2 %, ATM: 90.9 %). BRCA1 tumors had the highest proportions with round shape (31.4 %), circumscribed margins (24.0 %), rim enhancement (24.0 %), washout (58.7 %), and necrosis (19.8 %), with 47.9 % comprised of triple negative subtype. Bilateral mastectomy was performed in higher proportions of patients with BRCA1 (84.3 %) and BRCA2 (75.5 %) variants compared to others.
Conclusions: Genetic and molecular profiles of breast cancers demonstrate reproducible MRI phenotypes.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2023 Elsevier B.V. All rights reserved.)
Method: Multisite retrospective review evaluated 410 patients from 2001 to 2020 with breast cancer and a predisposing pathogenic variant who underwent breast MRI at time of cancer diagnosis. Dominant malignant lesion features were reported, including lesion type (mass versus non-mass enhancement), size, shape, margin, internal enhancement pattern, plus other features. Kruskal-Wallis test, Fisher's exact test, and pairwise comparisons performed comparing imaging manifestations for the most frequent genetic results.
Results: BRCA1 (29.5 %) and BRCA2 (25.9 %) variants were most common, followed by CHEK2 (16.6 %), ATM (8.0 %), and PALB2 (6.3 %), with significant associated differences in race/ethnicity (p = 0.040), age at cancer diagnosis (p = 0.005), tumor shapes (p = 0.001), margins (p < 0.001), grade (p < 0.001), internal enhancement pattern (rim enhancement) (p < 0.001), kinetics (washout) (p < 0.001), and presence of necrosis (p < 0.001). CHEK2 and ATM tumors were often lower grade with spiculated margins (CHEK2: 47.1 %, ATM: 45.5 %), rarely exhibiting washout or tumor necrosis (p < 0.001), and were mostly comprised of luminal molecular subtypes (CHEK2: 88.2 %, ATM: 90.9 %). BRCA1 tumors had the highest proportions with round shape (31.4 %), circumscribed margins (24.0 %), rim enhancement (24.0 %), washout (58.7 %), and necrosis (19.8 %), with 47.9 % comprised of triple negative subtype. Bilateral mastectomy was performed in higher proportions of patients with BRCA1 (84.3 %) and BRCA2 (75.5 %) variants compared to others.
Conclusions: Genetic and molecular profiles of breast cancers demonstrate reproducible MRI phenotypes.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2023 Elsevier B.V. All rights reserved.)