Fibroepithelial Breast Lesion: When Sequencing Can Help to Make a Clinical Decision. A Case Report

Montagna, Giacomo; Ng, Charlotte K.Y.; Vlajnic, Tatjana; Paradiso, Viola; Dellas, Sophie; Reina, Hubertina; Kind, André B.; Weber, Walter; Piscuoglio, Salvatore; Kurzeder, Christian

doi:10.1016/j.clbc.2018.10.007

Cited by 3 publications

(3 citation statements)

References 21 publications

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“…A custom targeted sequencing panel focusing on the most frequently altered genes in breast cancer was designed using Ion Ampliseq Designer (https://www.ampliseq.com/browse.action; Thermo Fisher Scientific, MA, USA). The panel covers all exons of 27 protein-coding genes as well as mutation hotspots in three cancer genes are also covered, and the recurrently mutated lncRNA genes MALAT1 and NEAT1 (Supplementary Table 1) (15). The panel was designed using the FFPE option for smaller amplicon size.…”

Section: Methodsmentioning

confidence: 99%

Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients

Soysal

Costa

et al. 2019

Front. Med.

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Background: Fibrocystic changes are associated with an increased risk of breast cancer. Genetic alterations have been found in fibrocystic changes with or without epithelial changes, suggesting that critical oncogenic events are occurring at an early stage. Methods: We investigated a unique collective of 17 breast cancer patients who, prior to the diagnosis of invasive breast cancer, underwent open surgical biopsy showing fibrocystic changes of the breast. The time span between biopsy for fibrocystic changes and invasive carcinoma ranged from 1 to 11 years (average 5.3 years). Ten (58.8%) of the patients had an ipsilateral invasive carcinoma, and 7 (41.2%) of the patients developed an invasive carcinoma of the contralateral breast. Massive parallel sequencing targeting genes frequently mutated in breast cancer was performed on the fibrocystic breast tissue as well as the ensuing cancer tissue. Results: In 9 cases, somatic mutations were found in the tumor tissue, the most prevalent being PIK3CA mutations ( n = 4), followed by TP53 mutations ( n = 2). None of these mutations were present in the previously removed mastopathy tissue. In one of the cases, an ERBB3 E928G mutation was present in the mastopathy as well as in the tumor tissue, with the variant allele frequency in the mastopathy being <0.1%. In two patients, we found two mutations ( MAP3K1 L380fs and PIK3CA I391M, respectively) present in the mastopathy as well as in the subsequent breast cancer. These two mutations, however, could also be due to fixation artifacts. Conclusion: Since no significant somatic mutations in the fibrocystic breast tissue, and only doubtful shared mutations between benign and associated cancer tissue were detected, it remains unclear why women with fibrocystic breast disease have a statistically significant increased risk of breast cancer. Further analyses, maybe on the level of gene expression, could help to clarify the role of these benign alterations in the development of breast cancer and help to identify women at greater risk of developing subsequent invasive cancer.

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Section: Methodsmentioning

confidence: 99%

Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients

Soysal

Costa

et al. 2019

Front. Med.

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“…While FAs generally regress with age and can be safely followed without further investigations, PTs continue to grow requiring wide local excision to prevent local recurrence. [2][3][4] The risk of local recurrence in PTs ranges from 17% in benign PT to 27% in malignant PT, with metastasis occurring in approximately 25% of malignant PTs. 5 Most recurrent PTs are histologically similar to initial tumors; however, in upto 26% of initial benign PTs, there is a risk of recurrence as borderline or malignant PTs.…”

Section: Introductionmentioning

confidence: 99%

Predictive sonographic features for differentiation of breast fibroepithelial tumors: fibroadenoma versus phyllodes tumor

Shin

Park

et al. 2021

Hong Kong Journal of Radiology

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Fibroepithelial tumors (FETs) of the breast are benign tumors, which include fibroadenoma (FA) and phyllodes tumor (PT). Although they show different biological behaviors, differentiation using imaging features or core needle biopsy is challenging. Therefore, we evaluated sonographic features that could be useful for differentiating FA and PT and the diagnostic accuracy of core needle biopsy for differentiating breast FETs. MethodsA total of 121 patients with 125 lesions diagnosed as fibroepithelial tumors on US-guided core needle biopsy from March 2017 to April 2020 were studied. Among them, sonographic features of 68 lesions were analyzed retrospectively. Clinicopathologic results of core needle biopsy and surgical excision were reviewed using electronic medical records. ResultsTumor size, echogenicity, presence of an internal cleft, vascularity, and elasticity showed significant differences between FA and PT. A large tumor size (≥3 cm), presence of an internal cleft, and hard elasticity were common sonographic features in PTs. Core needle biopsy revealed similar pathologic results with surgical excision performed in 61 cases of 68 cases (89%). ConclusionUltrasonographic features can be useful imaging factors for differentiating FA and PT. Moreover, US-guided core needle biopsy can replace surgical excision with a high diagnostic accuracy in some cases.

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“…4 PT is subdivided into three categories based on microscopic features: benign, borderline and malignant. 5 Clinically, benign PT looks like fibroadenomas, 6 but recurrence after excision of the tumor is much more frequent. Malignant PT, a very uncommon tumor, can be very aggressive with local recurrences and distant metastases.…”

Section: Introductionmentioning

confidence: 99%

Phyllodes Tumor of the Breast during Pregnancy and Lactation; A Systematic Review

et al. 2020

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Background: Phyllodes tumor (PT) is a rare tumor of the breast, which may occur during pregnancy or lactation. Several studies have reviewed and discussed PT occurring in pregnancy, gathering up to 14 patients. We performed a thorough systematic review of the literature in an attempt to find all reported cases, and identify their common characteristics. Methods: We searched Google scholar, PubMed, Ovid Medline, Scopus and ClinicalTrials.gov with several relevant combinations of keywords, looking for texts or abstracts without any date or language limitations, but using only English keywords. The existing literature only consisted of case reports and series; therefore any paper including one or several cases of PT presenting during pregnancy or breastfeeding was recognized as eligible. Articles with vague description of the tumor which made the diagnosis uncertain, and those lacking data about the tumor and management data were excluded. We contacted authors for more details in cases with incomplete information. Results: After excluding those with very deficient data, we included 37 studies, counting 43 cases. The mean age of the patients was 31 years (21-43 years). Some features were different from usual PT: bilaterality (16.2%), large size (14.2 ± 8.6 cm), rapid enlargement (79.5%), and rate of malignancy (60.5%). Conclusion: Our findings show high rates of bilaterality, large size, rapid growth, and malignant pathology in the reported gestational PTs.

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Fibroepithelial Breast Lesion: When Sequencing Can Help to Make a Clinical Decision. A Case Report

Cited by 3 publications

References 21 publications

Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients

Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients

Predictive sonographic features for differentiation of breast fibroepithelial tumors: fibroadenoma versus phyllodes tumor

Phyllodes Tumor of the Breast during Pregnancy and Lactation; A Systematic Review

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