Table 2.
Study, year | Summary of findings |
---|---|
Noguchi et al.,36 1993 | Epithelial and stromal cells were polyclonal in all of 10 fibroadenomas, whereas stromal cells were monoclonal in all of five phyllodes tumours |
Noguchi et al.,37 1995 | The same allele of the androgen receptor gene was inactivated in fibroadenomas and phyllodes tumours in each of three patients with both tumours |
Kasami et al.,38 1998 | 5% (1/20) of ‘complex’ fibroadenomas and 1% (1/25) of ‘simple’ fibroadenomas showed stromal monoclonality. The one ‘simple’ fibroadenoma coexisted with a phyllodes tumour component, which showed similar stromal monoclonality |
Kuijper et al.,39 2002 | Areas of ‘stromal expansion’ in three of 25 fibroadenomas were monoclonal. In addition, nine of 12 phyllodes tumours showed stromal monoclonality |
Wang et al.,40 2006 | Phyllodes tumours harboured a subset of LOH loci, which were absent in fibroadenomas. Primary and recurrent phyllodes tumours shared common regions of LOH |
Hodges et al.,41 2009 | A single, laser-microdissected fibroadenoma and phyllodes tumour (synchronous) showed similar allelic loss (D7S522) in both components, wheras the phyllodes component showed additional losses at TP53 and D22S264 |
Abe et al.,42 2011 | Eleven of 36 cases of malignant phyllodes tumours were associated with prior diagnoses of fibroadenomas |
Foucar et al.,43 2012 | A recent report of benign phyllodes tumours that developed in a mother and daughter pair raised the possibility of a genetic predisposition for phyllodes tumour development |
Lim et al.,44 2014 | Recurrent somatic mutations in exon 2 of MED12 were discovered in 59% of 98 fibroadenomas on exome sequencing, with 71% of mutations occurring in codon 44 |
Cani et al.,45 2015 | MED12 mutations were found in phyllodes tumours of all histological grades on next-generation sequencing. Additional mutations in p53, RB1 and NF1, as well as high-level copy number alterations, such as amplifications in EGFR and IGF1R, were features of malignant tumours |
Yoshida et al.,46 2015 | All grades of phyllodes tumours showed MED12 mutations. Microdissection analysis confirmed MED12 mutations to be stroma-confined in fibroadenomas and phyllodes tumours |
Piscuoglio et al.,47 2015 | Malignant phyllodes tumours were significantly less likely to harbour MED12 mutations than fibroadenomas, and benign and borderline phyllodes tumours |
Nagasawa et al.,48 2015 | MED12 mutations were found in 67% of fibroadenomas (6/9) and in 45% of phyllodes tumours (5/11) |
Pfarr et al.,49 2015 | 60% of all fibroepithelial breast lesions (fibroadenomas and phyllodes tumours) showed MED12 mutations. Intracanalicular fibroadenomas showed the highest frequency of mutations (82%), whereas malignant phyllodes tumours were least likely to contain the mutations (20%) |
Ng et al.,50 2015 | 62.5% (70/112) of phyllodes tumours showed MED12 mutations. Tumours with MED12 mutations were associated with longer disease-free survival, whereas absence of MED12 mutations was correlated with a higher likelihood of recurrence |
LOH, loss of heterozygosity.