Reports of MED12 somatic mutations in fibroadenomas (FA) and phyllodes tumours (PT)
| First author, journal, date published | MED12 mutation frequency | Distribution of MED12 mutations | Additional findings |
|---|---|---|---|
| Lim1 Nat Genet 20 July 2014 | 58/98 (59%) of FA | 42 (72%) G44 missense mutations 4 (7%) other missense mutations 7 (12%) in-frame deletions 1 (2%) frameshift deletion 4 (7%) splice site mutations | Microdissection performed. MED12 mutations were present in stroma but not in the epithelium. |
| Cani12 Mol Cancer Res 15 Jan 2015 | 10/15 (67%) of PT 4/5 (80%) of benign 4/5 (80%) of borderline 2/5 (40%) of malignant | 5 (50%) G44 missense mutations 3 (30%) in-frame deletions 2 (20%) splice site mutations | Mutations of TP53, RB1 and NF1 found exclusively in malignant tumours. |
| Yoshida27 Br J Cancer 2 Apr 2015 | 37/46 (80%) of PT 15/18 (83%) of benign 12/15 (80%) of borderline 10/24 (77%) malignant 36/58 (62%) of FA 24/32 (75%) intracanalicular 8/20 (40%) pericanalicular | 38 (52%) G44 missense mutations 5 (7%) other missense mutations 21 (29%) in-frame deletions 6 (8%) splice site mutations 3 (4%) duplications | Microdissection revealed MED12 mutations confined to stromal component only. MED12 mutations not correlated with abnormal protein expression of p53, p16 and Rb. |
| Piscuoglio11 Histopathology 8 Apr 2015 | 30/47 (64%) PT 22/25 (88%) of benign 7/9 (78%) of borderline 1/13 (8%) of malignant 17/20 (65%) FA 8/8 (100%) intracanalicular 6/15 (40%) pericanalicular | 28 (60%) G44 missense mutations 16 (34%) in-frame deletions 3 (6%) frameshift indels | – |
| Nagasawa28 Cancer Med 13 Apr 2015 | 5/11 (45%) PT—all borderline grades 6/9 (67%) FA | 5 (45%) G44 missense mutations 1 (9%) other missense mutation 4 (36%) in-frame deletions 1 (9%) splice site mutation | Next-generation sequencing on cancer and sarcoma-related regions found no other recurrent mutations |
| Pfarr10 Genes Chromosomes Cancer 30 Apr 2015 | 9/16 (56%) PT 8/11 (73%) benign 1/5 (20%) malignant 13/21 (62%) FA 9/11 (82%) intracanalicular 4/10 (40%) pericanalicular | 13 (59%) G44 missense mutations 2 (9%) other missense mutations 6 (27%) in-frame deletions 1 (5%) splice site mutation | – |
| Ng2 J Clin Pathol 27 May 2015 | 70/112 (62.5%) PT 43/66 (65%) benign 21/32 (66%) borderline 6/14 (43%) malignant | 52 (74%) G44 missense mutations 1 (1%) other missense mutation 13 (19%) in-frame deletions 4 (6%) splice site mutations | Patients with MED12 mutant tumours experienced an improved disease-free survival |
| Mishima29 Breast Cancer Res Treat 21 June 2015 | 20/27 (74%) PT 16/20 (80%) benign 4/6 (67%) borderline 0/1 (0%) malignant 27/58 (47%) FA 20/29 (69%) intracanalicular 2/13 (15%) pericanalicular 3/13 (23%) organoid 2/3 (67%) mastopathic | 38 (78%) G44 missense mutations 2 (4%) other missense mutations 6 (12%) in-frame deletions 3 (6%) splice site mutations | Microdissection performed. MED12 mutations were present in stroma but not in the epithelium of fibroadenomas and phyllodes tumours. |
| Lien30 Histopathology 25 June 2015 | 35/49 (71%) PT 16/22 (73%) benign 12/17 (71%) borderline 7/10 (70%) malignant 36/72 (50%) FA 9/18 (50%) usual FA 8/17 (47%) complex FA 10/19 (53%) juvenile FA 9/18 (50%) tubular adenoma | 52 (73%) G44 missense mutations 3 (4%) other missense mutations 14 (20%) insertion deletion mutations 2 (3%) splice site mutations | – |
| Yoon17 Genes Chromosomes Cancer 9 Feb 2016 | 81/176 (46%) PT 35/49 (71%) benign 25/49 (52%) borderline 21/78 (27%) malignant | 43 (53%) G44 missense mutations 1 (1%) other missense mutation 33 (41%) deletion mutations 4 (5%) splice site mutations | Frequency of MED12 mutation decreased with histologic grade |