Analysis of gene alterations of mitochondrial DNA D-loop regions to determine breast cancer clonality.

Abstract:

BACKGROUND:It has been a challenge to determine breast cancer clonality accurately. The aim of the present study was to assess methods using formalin-fixed paraffin-embedded (FFPE) tissue to differentiate new primary tumours from true recurrences that are associated with poorer prognoses and often require more aggressive treatment. METHODS:We investigated the novel method of analysing gene alterations of mitochondrial DNA D-loop region (GAMDDL) and compared it with the conventional method of analysing the X-chromosome-linked human androgen receptor (HUMARA). The FFPE sections of primary and secondary breast cancers, the non-neoplastic mammary gland, and lymph nodes were examined. RESULTS:Informative rates for HUMARA, GAMDDL, and combined analyses were 42.1%, 76.9%, and 89.5%, respectively. All of the 10 contralateral breast cancers were determined to be non-clonal. In contrast, 3 out of 8 (37.5%) of the ipsilateral secondary tumours shared a clonal origin with the primary tumour and were classified as true recurrences, whereas 4 out of 8 (50%) were classified as new primary tumours. CONCLUSION:GAMDDL analysis represents a novel and useful molecular method for examining the precise cell lineages of primary and secondary tumours, and was more accurate than HUMARA in determining clonality.

journal_name

Br J Cancer

authors

Masuda S,Kadowaki T,Kumaki N,Tang X,Tokuda Y,Yoshimura S,Takekoshi S,Osamura RY

doi

10.1038/bjc.2012.505

subject

Has Abstract

pub_date

2012-12-04 00:00:00

pages

2016-23

issue

12

eissn

0007-0920

issn

1532-1827

pii

bjc2012505

journal_volume

107

pub_type

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