Genomic profile of a secretory breast cancer with an ETV6-NTRK3 duplication

Lambros, Maryou B.; Tan, David S.P.; Jones, Robin L.; Vatcheva, Radost; Savage, Kay; Tamber, Narinder; Fenwick, Kerry; Mackay, Alan; Ashworth, Alan; Reis‐Filho, Jorge S.

doi:10.1136/jcp.2008.059675

Cited by 48 publications

(34 citation statements)

References 67 publications

(59 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A recent microarray study of 11 special histological types of breast cancer [145] has demonstrated that tumours belonging to each special histological type are much more homogeneous between themselves than invasive ductal carcinomas or lobular carcinomas. Consistent with this observation, our group and others have demonstrated that at least some special types of breast cancer are either underpinned by specific genetic aberrations (eg ETV6-NTRK3 translocation in secretory carcinomas [146,147]) or by a constellation of copy number changes (eg invasive micropapillary carcinomas [148][149][150]). Furthermore, there is anecdotal evidence to suggest that some special histological types of breast cancer known to have an excellent prognosis (eg adenoid cystic carcinomas [151]) may be assigned to poor prognostic groups by the 70-gene signature [145].…”

Section: B Weigelt Et Alsupporting

confidence: 53%

The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade

Weigelt

Baehner

Reis‐Filho

2009

The Journal of Pathology

385

350

View full text Add to dashboard Cite

In the last decade, the development of microarrays and the ability to perform massively parallel gene expression analysis of human tumours were received with great excitement by the scientific community. The promise of microarrays was of apocalyptic dimensions, with some experts envisaging that it would be a matter of a few years for this technology to replace traditional clinicopathological markers in clinical practice and treatment decision-making. The replacement of histopathology by high-tech and more objective approaches to cancer diagnosis, prognostication and prediction was, at that time, a foregone conclusion. Ten years after the initial publications of translational research studies using microarrays, one cannot deny that this technology has changed the way breast cancer is perceived. It has brought the concept of breast cancer heterogeneity to the forefront of cancer research, and the fact that distinct subtypes of breast cancer are completely different diseases that affect the same anatomical site. Furthermore, it has led to the development of prognostic and predictive 'gene signatures', which are yet to be fully incorporated into clinical practice. Importantly, though, the prognostic and predictive power of microarrays has been shown to be complementary to, rather than a replacement for, traditional clinicopathological parameters. Here we endeavour to provide a fair and balanced assessment of what microarray-based gene expression analysis has taught us in the last decade and its contribution to breast cancer classification, prognostication and prediction.

show abstract

Section: B Weigelt Et Alsupporting

confidence: 53%

The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade

Weigelt

Baehner

Reis‐Filho

2009

The Journal of Pathology

385

350

View full text Add to dashboard Cite

show abstract

“…Recent reports, as well as our experience, suggest that secretory carcinomas express basal-cell markers, including cytokeratins 5/6, 14, and 17; c-Kit (CD117); epidermal growth factor receptor; and vimentin 20,21 (Figure 2, C). Although the initial geneexpression profiling analysis indicated that all tumors with basal-like immunophenotype had poorer prognoses, they are now known to encompass various histologic types, some with better prognoses, such as adenoid cystic carcinoma.…”

Section: Immunohistochemical Featuresmentioning

confidence: 55%

Secretory Breast Carcinoma: Unique, Triple-Negative Carcinoma With a Favorable Prognosis and Characteristic Molecular Expression

Vasudev

Onuma²

2011

Archives of Pathology &Amp; Laboratory Medicine

View full text Add to dashboard Cite

Secretory carcinoma is a rare but distinct subtype of breast carcinoma, with characteristic histomorphology and generally favorable prognosis. Although it was originally described as a juvenile breast carcinoma, occurring in young children, most cases have been reported in adults of both sexes. As the name implies, the characteristic histomorphology is the presence of a large amount of intracellular and extracellular, eosinophilic secretion material that stains positive for periodic acid–Schiff. Most tumors stain positive for S100 and negative for estrogen receptor, progesterone receptor, and ERBB2 (formerly HER2/neu) (ie, triple negative). In addition, some secretory carcinomas demonstrate a basal-like immunoprofile. Recent studies have shown the characteristic molecular feature: a balanced translocation t(12;15), resulting in an ETS variant 6–neurotrophic tyrosine kinase receptor type 3 (ETV6-NTRK3) fusion gene encoding a chimeric tyrosine kinase. Although rare events of axillary lymph node or distant metastases have been documented, the prognosis is generally excellent. The methods of surgical treatment and the role of adjuvant therapy, particularly for young patients, remain controversial.

show abstract

“…It was subsequently recognized in adults (accounting for two thirds of cases [37,45,104]) and renamed secretory carcinoma [44]. It represents 0.15% [16] of all breast cancers and 0.2% of male breast cancers [23].…”

Section: Secretory Breast Cancermentioning

confidence: 99%

“…Secretory breast cancers are low-grade triple-negative (ER Ϫ PR Ϫ HER-2 Ϫ ) cancers that express basal cell markers [104,107]. However, they are genetically unique and are associated with a better prognosis than other basal-like tumors [107].…”

Section: Secretory Breast Cancermentioning

confidence: 99%

Management of Unusual Histological Types of Breast Cancer

et al. 2012

View full text Add to dashboard Cite

There is increased understanding of the heterogeneity of breast tumors, with greater emphasis now being placed on histological and molecular profiles and, in particular, their implications for prognosis and therapy. This review addresses breast cancers of unusual histological subtype with an approximate incidence <1%. Given the rarity of these tumors, the literature contains primarily case reports, small series, and population-based studies. Data are heterogeneous and almost entirely retrospective, frequently gathered over long time periods, in the context of changing pathological techniques and reporting. In addition, our understanding of the disease biology and therapeutic context has also evolved significantly over this time. There is often limited information about the specific therapies used and the rationale for choosing such an approach. Meaningful comparisons of treatment modalities are not feasible and it is not possible to define management guidelines. Instead, this review correlates the available information to give an impression of how each subgroup behaves-of the favored surgical technique, responses to therapy, and prognosis-as well as the emerging molecular data, highlighting new research areas for potential target in clinical trials. Each tumor subtype described represents a small but real cohort of patients with breast cancer, and although inferences may be made from this review, we are mindful of the paucity of data. The management of each patient must be considered in the context of their unique clinical presentation and correlated with the evidence-based principles that apply to more common breast cancer histologies. The Oncologist 2012;17:1135-1145

show abstract

Genomic profile of a secretory breast cancer with an ETV6-NTRK3 duplication

Cited by 48 publications

References 67 publications

The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade

The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade

Secretory Breast Carcinoma: Unique, Triple-Negative Carcinoma With a Favorable Prognosis and Characteristic Molecular Expression

Management of Unusual Histological Types of Breast Cancer

Contact Info

Product

Resources

About