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Discordant ERBB2 Status and Genome Wide DNA Copy Number Alterations in Breast Cancer and Synchronous Lymph Node Metastasis: A Case Report and Literature Review.

ABSTRACT: Erb-b2 receptor tyrosine kinase 2 (ERBB2) is a biomarker in the management of breast cancer (BC). Changes of ERBB2 status in primary and synchronous metastasis have been reported in approximately 5% of BC. Here we describe a 55-years-old female with a history of left-side BC and again diagnosed in 2019 with right-side BC tested ER-, PR-, ERBB2+ in breast tissue and triple negative in right axillary lymph node. The right BC and lymph node metastasis samples were tested by chromosomal microarray (CMA); the BC sample harbored more DNA copy number alterations than the lymph node specimen, suggesting that the lymph node metastasis was not directly originating from a dominant tumor clone in the right BC. This case highlights discordant ERBB2 status that can benefit from assessment of ERBB2 in both primary and metastatic specimens. This case also demonstrates the value of using CMA to help understand the clonal evolution of breast cancer metastasis especially when there are discordant biomarker results between primary and metastatic lesions.

SUBMITTER: Singhal R

PROVIDER: S-EPMC7328523 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundLymph node metastasis is an important indicator of oncologic outcome for patients with rectal cancer. Identifying predictive biomarkers of lymph node metastasis could therefore be clinically useful.ObjectiveThe aim of this study was to assess whether chromosomal copy number alterations can assist in predicting persistent lymph node metastasis in patients with locally advanced rectal cancer treated with preoperative chemoradiation therapy.DesignThis is a nonrandomized, prospective phase II study.SettingThis study took place in a multi-institutional setting.PatientsNinety-five patients with stage II (cT3-4, cN0) or stage III (any cT, cN1-2) rectal cancer were included.InterventionPatients were treated with preoperative chemoradiation therapy followed by total mesorectal excision. Pretreatment biopsy tumor DNA and surgical margin control DNA were extracted and analyzed by oligonucleotide array-based comparative genomic hybridization. Chromosomal copy number alterations were correlated with persistent lymph node metastasis. Finally, a model for predicting persistent lymph node metastasis was built.Main outcome measuresThe primary outcomes assessed were whether chromosomal copy number alterations are associated with persistent lymph node metastasis in patients with rectal cancer and the accuracy of oligonucleotide array-based comparative genomic hybridization for predicting lymph node metastasis.ResultsTwenty-five of 95 (26%) patients had lymph node metastasis after chemoradiation. Losses of 28 chromosomal regions, most notably in chromosome 4, were significantly associated with lymph node metastasis. Our predictive model contained 65 probes and predicted persistent lymph node metastasis with 68% sensitivity, 93% specificity, and positive and negative predictive values of 77% and 89%. The use of this model accurately predicted lymph node status (positive or negative) after chemoradiation therapy in 82 of 95 patients (86%).LimitationsThe patient cohort was not completely homogeneous, which may have influenced their clinical outcome. In addition, although we performed rigorous, statistically sound internal validation, external validation will be important to further corroborate our findings.ConclusionsCopy number alterations can help identify patients with rectal cancer who are at risk of lymph node metastasis after chemoradiation.

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Discordant ERBB2 Status and Genome Wide DNA Copy Number Alterations in Breast Cancer and Synchronous Lymph Node Metastasis: A Case Report and Literature Review.

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