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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]
  1. NK non-keratinizing, K keratinizing, DOC deceased of other causes, DOD deceased of disease, CRT chemoradiotherapy, NED no evidence of disease.