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Tumour Heterogeneity
Pathobiology 2018;85:23–34
DOI: 10.1159/000477851
Tumour Heterogeneity of Breast
Cancer: From Morphology to
Personalised Medicine
Mohammed A. Aleskandarany
a
Michel E. Vandenberghe
b
Caterina Marchiò
c
Ian O. Ellis
a
Anna Sapino
c, d
Emad A. Rakha
a
a
Department of Histopathology, University of Nottingham and Nottingham University Hospitals NHS Trust, City
Hospital, Nottingham, and
b
Precision Medicine Laboratories, Precision Medicine and Genomics, IMED Biotech Unit,
AstraZeneca, Cambridge, UK;
c
Department of Medical Sciences, University of Turin, Turin, and
d
Candiolo Cancer
Institute-FPO, IRCCS, Candiolo, Italy
studies and in the clinical setting. Here, we provide a brief
overview of BC heterogeneity, with an emphasis on the clin-
ical consequences of intratumoral heterogeneity.
© 2018 S. Karger AG, Basel
Introduction
Breast cancer (BC) is characterised by a remarkable
degree of morphological and molecular heterogeneity,
not only between tumours (intertumoral heterogeneity)
but also among the same tumours (intratumoral hetero-
geneity). At the level of an individual patient’s tumours,
heterogeneity can also be classified into “spatial” and
“temporal.” Temporal heterogeneity is particularly im-
portant when comparing the features of the primary tu-
mour and metastatic or recurrent lesions, and pre-inva-
sive and invasive disease in the same tumours. There is
sufficient evidence to indicate considerable differences
between the primary tumour and local or distant recur-
rences that may have an impact on the treatment deci-
sions for patients with recurrent disease [1–3]. Heteroge-
neity in BC is the result of a co-ordinated interplay be-
Keywords
Breast cancer · Heterogeneity · Morphology ·
Molecular heterogeneity · Microenvironment · Sampling ·
Personalised therapy · Resistance
Abstract
Breast cancer (BC) displays striking clinical, morphological,
and behavioural diversity within a single tumour and be-
tween tumours. Currently, mounting evidence indicates that
the morphological heterogeneity of BC reflects an underly-
ing spectrum of genetic and epigenetic portraits that control
BC behaviour. Further understanding of BC heterogeneity
will have an impact, not only on the routine diagnostic prac-
tices but also on patients’ management decisions. Phenom-
ena like diagnostic inconsistencies and therapeutic resis-
tance, both primary and acquired, could be attributed, at
least in part, to tumour heterogeneity within the same can-
cer and between the primary disease and subsequent recur-
rences. From a practical standpoint, and to minimise the im-
pact of BC intratumoral heterogeneity, pragmatic approach-
es for adequate tumour sampling have been suggested in
translational biomarker discovery and validation research
Received: December 19, 2016
Accepted after revision: May 30, 2017
Published online: February 10, 2018
Prof. Emad A. Rakha
Department of Histopathology, University of Nottingham
Nottingham City Hospitals NHS Trust
Hucknall Road, Nottingham, NG5 1PB (UK)
E-Mail Emad.Rakha @ nottingham.ac.uk
© 2018 S. Karger AG, Basel
www.karger.com/pat