Pleomorphic Invasive Lobular Cancer of the Breast Presenting with Orbital Metastasis: A Case Report

Background: Orbital metastasis of breast cancer is an unusual condition, especially in the absence of a previous diagnosis of primary breast cancer. The main MRI findings in patients with orbital metastasis are retroorbital soft tissue with thickening of extraocular muscles. Paradoxical enophtalmos secondary to fibrosis can be seen. Case Report: In this case report we present a 75-year-old female patient with left eye pain and blurred vision and retraction. Although there was no evidence of malignancy in the biopsy of the orbita; since the patient's complaints continued despite idiopathic pseudotumor treatment; mammography was recommended to rule out the possibility of breast cancer metastasis. Her mammography revealed a suspicious lesion in the left breast and proved to be pleomorphic invasive lobular cancer. Conclusion: Breast cancer metastasis should be kept in mind in women with pseudotumor -like involvement of the orbita.

Rectal Metastases of Breast Carcinoma: A Case Report

The scarcely reported hematogenous rectal metastases from breast cancer are rare and the diagnosis is challenging. They may be recognized before, concomitantly with, or after the diagnosis of the primary site of breast cancer. Invasive lobular cancer is the histological type more frequently described, and most of the affected patients have a late diagnosis. Tardive recognition is associated with poor outcomes, despite the management options. Endoscopic and imaging evaluations, mainly magnetic resonance studies, are useful, but the anatomopathological findings are mandatory to confirm the diagnostic hypothesis. We describe a middle-aged woman with advanced rectal metastases of unsuspected breast cancer found during the evaluation of manifestations due to intestinal implants. One must highlight long-term follow-up of breast cancers even if seeming in remission. The aim of this report is to enhance the suspicion index of primary health care workers.

Targetable alterations in invasive pleomorphic lobular carcinoma of the breast

Background Invasive pleomorphic lobular carcinoma (PLC) of the breast is a subtype of invasive lobular cancer which compromises approximately 1% of all epithelial breast malignancies and is characterized by higher nuclear pleomorphism and poorer prognosis than classic invasive lobular cancer (ILC). Since PLC is more aggressive than classical ILC, we examined the underlying molecular alterations in this subtype of breast cancer to understand the possible benefit from targeted therapies. Methods In this study, we investigate the clinical characteristics and molecular alterations in 16 PLC from our institution. Additionally, we examined the clinical and genomic features in 31 PLC from the Cancer Genome Atlas (TCGA). Results Overall, our analysis of PLC found that 28% had activating ERBB2 mutations, 21% had ERBB2 amplification, and 49% activating PIK3CA mutations. Among cases from our institution, we found 19% with activating ERBB2 mutations, 25% had ERBB2 amplification, and 38% with activating PIK3CA mutations. In data from TCGA, 32% had activating ERBB2 mutations, 19% had ERBB2 amplification, and 55% had activating PIK3CA mutations. While classic ILC in TCGA had similar percentages of PIK3CA alterations compared to PLC, activating ERBB2 alterations were exceedingly rare, with no activating ERBB2 mutations and only one case with ERBB2 amplification. Interestingly, in further examining TCGA data which included FGFR1 and PTEN, 94% of PLC had alterations in ERBB2, FGFR1, or the PI3K pathway. Conclusions Our results show a high frequency of ERBB2 and PIK3CA alterations in PLC and suggest all PLC should be tested for potential therapeutic targeting.

Targetable Alterations in Invasive Pleomorphic Lobular Carcinoma of the Breast

Background Invasive pleomorphic lobular carcinoma (PLC) of the breast is a subtype of invasive lobular cancer which compromises approximately 1% of all epithelial breast malignancies and is characterized by higher nuclear pleomorphism and poorer prognosis than classic invasive lobular cancer (ILC). Since PLC is more aggressive than classical ILC, we examined the underlying molecular alterations in this subtype of breast cancer to understand the possible benefit from targeted therapies. Methods In this study, we investigate the clinical characteristics and molecular alterations in 16 PLC from our institution. Additionally, we examined the clinical and genomic features in 31 PLC from the Cancer Genome Atlas (TCGA).Results Overall, our analysis of PLC found that 27% had activating ERBB2 mutations, 20% had ERBB2 amplification, and 47% activating PIK3CA mutations. Among cases from our institution, we found 19% with activating ERBB2 mutations, 25% had ERBB2 amplification, and 38% with activating PIK3CA mutations. In data from TCGA, 32% had activating ERBB2 mutations, 19% had ERBB2 amplification, and 55% had activating PIK3CA mutations. While classic ILC in TCGA had similar percentages of PIK3CA alterations compared to PLC, activating ERBB2 alterations were exceedingly rare, with no activating ERBB2 mutations and only one case with ERBB2 amplification. Interestingly, in further examining TCGA data which included FGFR1 and PTEN, 94% of PLC had alterations in ERBB2, FGFR1, or the PI3K pathway. Conclusions Our results show a high frequency of ERBB2 and PIK3CA alterations in PLC and suggest all PLC should be tested for potential therapeutic targeting.

Results of Short-Term Follow-Up in BI-RADS 3 and 4a Breast Lesions with a Histological Diagnosis of Fibroadenoma at Percutaneous Needle Biopsy

Objective: To evaluate the usefulness of short-term (6 months) follow-up in patients with Breast Imaging Report and Data System (BI-RADS) 3 and 4a lesions, after a diagnosis of fibroadenoma at an image-guided biopsy. Patients and Methods: The data of 318 women with 349 biopsy-proven fibroadenomas, a 6-month follow-up, and a follow-up of ≥ 24 months were retrospectively reviewed. Information on clinical history, lesion characteristics on ultrasound (US), mammography, and magnetic resonance imaging (MRI), BI-RADS classification, and follow-up was collected. The false-negative (FN) rate and the negative predictive value (NPV) for the biopsy were calculated. Results: 43 patients (13.5%) presented with a palpable nodule; 18 (5.7%) had a history of breast cancer. There were 334 lesions visible on US (95.7%), 57 on US and mammography (16.3%), and 15 on mammography only (4.3%); 37 lesions were first detected on MRI. All lesions were stable at 6 months. After an at least 1-year follow-up, 4 lesions changed their features and were excised. Histology showed 1 invasive lobular cancer, 1 ductal carcinoma in situ, 1 phyllodes tumor, and 1 papilloma. The FN rate of the needle biopsy was 1.1% and the NPV was 98.9%. Conclusion: For lesions initially described as BI-RADS 3 and 4a with a histological diagnosis of fibroadenoma after biopsy, short-term follow-up can be avoided.