A Meta-Analysis of Oestrogen Receptor, Progesterone Receptor and Human Epidermal Growth Factor Receptor 2 Discordance Between Primary Breast Cancer and Metastases

Aurilio, Gaetano; Disalvatore, Davide; Pruneri, Giancarlo; Bagnardi, Vincenzo; Viale, G.; Curigliano, Giuseppe; Goldhirsch, A.; Munzone, Elisabetta; Vita, F. De; Nolè, F.

doi:10.1093/annonc/mdu066.8

Cited by 43 publications

(59 citation statements)

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“…Obviously, correct tissue handling and fixation is crucial and the current recommendations for clinical testing should be met , however, analytical errors cannot account for all of the discordances. Aurilio et al performed a meta‐analysis of 48 articles evaluating ER, PR, and HER2 receptor discordance between primary breast cancer and metastases . The meta‐analysis included 4200 patients evaluating ER status and found pooled proportions of tumors shifting from positive to negative and negative to positive ER status of 24% and 14%, respectively.…”

Section: Endocrine Receptorsmentioning

confidence: 99%

Molecular Concordance Between Primary Breast Cancer and Matched Metastases

et al. 2016

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n Abstract: Clinical management of breast cancer is increasingly personalized and based on molecular profiling. Often, primary tumors are used as proxies for systemic disease at the time of recurrence. However, recent studies have revealed substantial discordances between primary tumors and metastases, both with respect to traditional clinical treatment targets and on the genomic and transcriptomic level. With the increasing use of molecularly targeted therapy, discordance of actionable molecular targets between primary tumors and recurrences can result in nonoptimal treatment or unnecessary side effects. The purpose of this review is to illuminate the extent of cancer genome evolution through disease progression and the degree of molecular concordance between primary breast cancers and matched metastases. We present an overview of the most prominent studies investigating the expression of endocrine receptors, transcriptomics, and genome aberrations in primary tumors and metastases. In conclusion, biopsy of metastatic lesions at recurrence of breast cancer is encouraged to provide optimal treatment of the disease. Furthermore, molecular profiling of metastatic tissue provides invaluable mechanistic insight into the biology underlying metastatic progression and has the potential to identify novel, potentially druggable, drivers of progression. n

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Section: Endocrine Receptorsmentioning

confidence: 99%

Molecular Concordance Between Primary Breast Cancer and Matched Metastases

et al. 2016

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“…The meta-analysis by Aurilio et al showed that the rates of discordance of primary tumor and metastasis for ER and PgR were 20 and 33% [13]. They also noted that the conversion to negative receptor status at recurrence was seen more frequently than the positive conversion with rates of 24% vs. 14% for ER status and 46% vs. 15% for PgR status [13], which can be greatly attributed to the treatment given that select subclones with different phenotypes to emerge. For the purpose of this article a molecular analyses of all three samples were done using TST 170 gene panel and no common mutation was found.…”

Section: Discussionmentioning

confidence: 99%

An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube

Boltežar

Gašljević

Novaković

et al. 2020

Hered Cancer Clin Pract

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Background: In a patient with a germline BRCA2 pathogenic variant with breast cancer, an adnexal mass can represent either a metachronous primary tumor or a metastasis of the breast cancer. A clear distinction between those two possibilities is crucial since treatments differ substantially and so does survival of the patient. Case presentation: We present a case of a 47-year-old patient with bilateral breast carcinoma with a germline BRCA2 pathogenic variant. The first manifestation of the disease was a lump in her left breast in 1998, histological report was invasive ductal carcinoma, triple-negative. She was treated with surgery, chemotherapy and radiotherapy. In 2011 a new occult carcinoma was found in her right axilla, however the specimen was estrogen receptor (ER) and progesterone receptor (PgR) positive. She was treated as a new primary occult carcinoma of the right breast with surgery, radiotherapy and adjuvant hormonal treatment. In 2016 a mass in the left adnexa was found with imaging techniques. She underwent surgery as if it was primary ovarian cancer, yet histology revealed it was a metastasis of a triple-negative breast carcinoma in the fimbrial part of the left Fallopian tube. She received adjuvant chemotherapy after surgery and is now in complete remission. Conclusion: We present an interesting and quite rare case of two primary breast carcinomas in a patient with a known BRCA2 pathogenic variant with metastasis in the fimbrial part of the left Fallopian tube. We conclude that there were two primary breast tumours and the one from 2011 spread into the fimbrial part of the left Fallopian tube in 2016. Despite the fact that molecular analyses could not confirm the joint tumour origin, we believe that there was a receptor status conversion over time explaining different receptor status. The possibility of a triple-negative metastasis from the tumour treated in 1998 is less probable. With both of aforementioned possibilities being prognostically unfavourable, the patients' outcome is so far excellent and she was in complete remission at the time of writing this article.

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“…A recent meta-analysis of 33 studies has reported rates of discordance between primary and metastatic sites of 20% for ER, 33% for PR and 8% for HER2. For ER, 24% of tumours converted from ER+ to ER-, while 14% gained ER positivity [114].…”

Section: Biological Challenges: Temporal Heterogeneity and Resistancementioning

confidence: 99%

“…The well-established occurrence of temporal heterogeneity [113,114] suggests that receptor expression status ought to be re-assessed prior to treatment selection in the metastatic setting [79]. A recent meta-analysis of 33 studies has reported rates of discordance between primary and metastatic sites of 20% for ER, 33% for PR and 8% for HER2.…”

Section: Biological Challenges: Temporal Heterogeneity and Resistancementioning

confidence: 99%

The evolving role of receptors as predictive biomarkers for metastatic breast cancer

Martínez-Pérez

Turnbull

Dixon

2018

Expert Review of Anticancer Therapy

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Introduction:In breast cancer, oestrogen receptor (ER) and human epidermal growth factor receptor 2 (HER2) are essential biomarkers to predict response to endocrine and anti-HER2 therapies, respectively. In metastatic breast cancer, the use of these receptors and targeted therapies present additional challenges: temporal heterogeneity, together with limited sampling methodologies, hinders receptor status assessment and the constant evolution of the disease invariably leads to resistance to treatment. Areas covered:We summarise genomic abnormalities in ER and HER2, such as mutations, amplifications, translocations and alternative splicing, emerging as novel biomarkers that provide an insight into underlying mechanisms of resistance and hold potential predictive value to inform treatment selection. We also describe how liquid biopsies for sampling of circulating markers and ultrasensitive detection technologies have emerged which complement ongoing efforts for biomarker discovery and analysis. Expert commentary:While evidence suggests that genomic aberrations in ER and HER2 could contribute to meeting the pressing need for better predictive biomarkers, efforts need to be made to standardise assessment methods and better understand the resistance mechanisms these markers denote. Taking advantage of emerging technologies, research in upcoming years should include prospective trials incorporating these predictors into the study design to validate their potential clinical value.

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A Meta-Analysis of Oestrogen Receptor, Progesterone Receptor and Human Epidermal Growth Factor Receptor 2 Discordance Between Primary Breast Cancer and Metastases

Cited by 43 publications

References 0 publications

Molecular Concordance Between Primary Breast Cancer and Matched Metastases

Molecular Concordance Between Primary Breast Cancer and Matched Metastases

An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube

The evolving role of receptors as predictive biomarkers for metastatic breast cancer

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