A primary breast cancer with distinct foci of estrogen receptor-alpha positive and negative cells derived from the same clonal origin as revealed by whole exome sequencing.
Breast Cancer Res Treat
; 170(2): 425-430, 2018 Jul.
Article
en En
| MEDLINE
| ID: mdl-29541976
ABSTRACT
BACKGROUND/PURPOSE:
Tumor heterogeneity is a now well-recognized phenomenon that can affect the classification, prognosis and treatment of human cancers. Heterogeneity is often described in primary breast cancers based upon histologic subtypes, hormone- and HER2-receptor status, and immunolabeling for various markers, which can be seen within a single tumor as mixed cellular populations, or as separate discrete foci. EXPERIMENTAL DESIGN/METHODS:
Here, we present a case report of a patient's primary breast cancer that had two separate but adjacent histologic components, one that was estrogen receptor (ER) positive, and the other ER negative. Each component was subjected to whole exome sequencing and compared for gene identity to determine clonal origin.RESULTS:
Using prior bioinformatic tools, we demonstrated that both the ER positive and negative components shared many variants, including passenger and driver alterations. Copy number variations also supported the two components were derived from a single common clone.CONCLUSIONS:
These analyses strongly suggest that the two ER components of this patient's breast cancer were derived from the same clonal origin. Our results have implications for the evolution of breast cancers with mixed histologies, and how they might be best managed for optimal therapy.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias de la Mama
/
Sitios de Carácter Cuantitativo
/
Receptor alfa de Estrógeno
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Evolución Clonal
/
Secuenciación del Exoma
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Breast Cancer Res Treat
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos