scholarly journals Metastatic Invasive Lobular Breast Cancer Presenting Clinically with Esophageal Dysphagia

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Lilit Karapetyan ◽  
Heather Laird-Fick ◽  
Reuben Cuison
Keyword(s):  
Breast Cancer ◽  
Abdominal Ultrasound ◽  
Pleural Effusions ◽  
Lobular Breast Cancer ◽  
Abdominal Symptoms ◽  
Esophageal Dysphagia ◽  
Mucosal Changes ◽  
Invasive Lobular Breast Cancer ◽  
Lymphocytic Esophagitis ◽  
Progressive Dysphagia

Background. Intra-abdominal metastases of invasive lobular breast cancer (ILBC) may be insidious. We report a case of metastatic ILBC that presented with dysphagia within weeks of a negative mammogram and before the development of intra-abdominal symptoms. Case. A 70-year-old female developed esophageal dysphagia. She underwent EGD which showed a short segment of stricture of the distal esophagus without significant mucosal changes. Biopsy was unremarkable and patient underwent lower esophageal sphincter (LES) dilation. Severe progressive dysphagia led to esophageal impaction and three LES dilatations. CT scan showed bilateral pleural effusions, more prominent on right side, and ascites. The pleural effusions were transudative. Repeat EGD with biopsy showed lymphocytic esophagitis, and she was started on swallowed fluticasone. Abdominal ultrasound with Doppler showed that the main portal vein had atypical turbulent flow that was felt to possibly be due to retroperitoneal process. The patient underwent diagnostic laparoscopy which revealed diffuse punctate lesions on the peritoneum. Pathology was consistent with metastatic ILBC. Conclusion. Dysphagia in the setting of peritoneal carcinomatosis from metastatic ILBC is a rare finding. The case highlights the importance of metastatic ILBC as a differential diagnosis for female patients with progressive dysphagia and associated ascites or pleural effusions.

Genomic Characterization of Primary Invasive Lobular Breast Cancer

2016 ◽  
Vol 34 (16) ◽  
pp. 1872-1881 ◽  
Author(s):  
Christine Desmedt ◽  
Gabriele Zoppoli ◽  
Gunes Gundem ◽  
Giancarlo Pruneri ◽  
Denis Larsimont ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Copy Number ◽  
Clinical Investigation ◽  
Endocrine Treatment ◽  
Cancer Genes ◽  
Lobular Breast Cancer ◽  
Primary Tumors ◽  
Histologic Subtype ◽  
Increased Risk ◽  
Invasive Lobular Breast Cancer

Purpose Invasive lobular breast cancer (ILBC) is the second most common histologic subtype after invasive ductal breast cancer (IDBC). Despite clinical and pathologic differences, ILBC is still treated as IDBC. We aimed to identify genomic alterations in ILBC with potential clinical implications. Methods From an initial 630 ILBC primary tumors, we interrogated oncogenic substitutions and insertions and deletions of 360 cancer genes and genome-wide copy number aberrations in 413 and 170 ILBC samples, respectively, and correlated those findings with clinicopathologic and outcome features. Results Besides the high mutation frequency of CDH1 in 65% of tumors, alterations in one of the three key genes of the phosphatidylinositol 3-kinase pathway, PIK3CA, PTEN, and AKT1, were present in more than one-half of the cases. HER2 and HER3 were mutated in 5.1% and 3.6% of the tumors, with most of these mutations having a proven role in activating the human epidermal growth factor receptor/ERBB pathway. Mutations in FOXA1 and ESR1 copy number gains were detected in 9% and 25% of the samples. All these alterations were more frequent in ILBC than in IDBC. The histologic diversity of ILBC was associated with specific alterations, such as enrichment for HER2 mutations in the mixed, nonclassic, and ESR1 gains in the solid subtype. Survival analyses revealed that chromosome 1q and 11p gains showed independent prognostic value in ILBC and that HER2 and AKT1 mutations were associated with increased risk of early relapse. Conclusion This study demonstrates that we can now begin to individualize the treatment of ILBC, with HER2, HER3, and AKT1 mutations representing high-prevalence therapeutic targets and FOXA1 mutations and ESR1 gains deserving urgent dedicated clinical investigation, especially in the context of endocrine treatment.

Abstract S1-02: Lymphocytic infiltration in invasive lobular breast cancer

2016 ◽  
Author(s):  
C Desmedt ◽  
R Salgado ◽  
L Buisseret ◽  
G Zoppoli ◽  
M Fornili ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Lymphocytic Infiltration ◽  
Lobular Breast Cancer ◽  
Invasive Lobular Breast Cancer
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