Table 2 Rare and novel PIK3CA mutations in HPV positive oropharyngeal SCC
From: PIK3CA, HRAS and PTEN in human papillomavirus positive oropharyngeal squamous cell carcinoma
Mutation | Clinicopathologic features and number of cases in this study, n | Prior reports and References |
|---|---|---|
Exon 9, c.1571G > A, p.R524K and c.1573G > A, p.E525K | 53 year old man, NK, pT1 N2, no postoperative therapy, NED at 132 mo, n = 1 | None. While individually both mutations were previously reported, the combination of the two was not. |
Exon 9, c.1610G > A, p.R537Q | 60 year old man, NK, pT1 N2, CRT, DOD in 22 months, n = 1 | None |
Exon 20, c.2975G > A, p.R992Q | 68 year old man, NK, pT2 N1, radiotherapy, DOC at 70 months, n = 1 | Glioblastoma multiforme, n = 1 [25] |
Exon 20, c.3103G > A, p.A1035T | 54 year old man, mixed K& NK pT2 N2, radiotherapy, DOD at 53 months, n = 1 | Endometrial adenocarcinoma, n = 1 [26] |
Urothelial carcinoma of the bladder, n =1 [27] | ||
Exon 20, c.3129G > C, | 48 year old man, mixed K & NK, pT3 N1, radiotherapy, NED at 284 months, n = 1 | Carcinoma of the breast, n = 2 [28] |
p.M1043I | ||
Exon 20, c.3153G > A, p.W1051* | 71 year old man, NK, pT1 N1, treated with radiotherapy, DOC at 182 months, n = 1 | Ovarian clear cell carcinoma, n = 1; conventional colorectal carcinoma, n = 1; [29, 30] |