Table 2

Clinico-histopathological features of all patients with urothelial carcinomas of the urinary bladder

Family numberSexMutated MMR geneMutationAge bladder cancerOther malignancies (age at diagnosis)ImmunohistochemistryMSIAnalysed samples of the urinary bladderT stageGradingMorphology
MLH1MSH2MSH6PMS2
77MMLH1c.588+_588+6del64RP(63)-++-NDBTaHG1
73MMLH1c.1852_1854del (p.Lys618del)66ES(73)-++-NDBT1HG1
12MMSH2c.1387-?_1510-?del (Del exon 9)41C(49)+--+MSITURT1HG1
FMSH2(sister)42UR(50), RP(51), E(45), Cx2(52)+--+MSITURT1HG1
13MMSH2c.1-?_1076+?del (Del exon 1-6)43RP(51), C(41)+--+MSITURTaLG1
MMHS2 50%(father)68Cx3(52, 59, 66)NDNDNDNDNDNALG1
7MMSH2c.1-?_211+?del (Del exon 1)44+--+NDB≥T1HG1
4MMSH2c.1-?_211+?del (Del exon 1)49C(58), PR(49)+--+MSICPT2aHG1
17MMSH2c.1386+1G→T52Cx2(42, 47)+-tws+MSIBT1HG1
10MMSH2c.1-?_1076+?del (Del exon 1-6)57C(42)+--+MSITURTaLG1
6MMSH2c.1203dup (p.Gln402fs)51C(56)NDNDNDNDNDNA
3MMSH2c.1216C→T (p.Arg406X)58UR(58), Cx(33,34)NDNDNDNDNDNA
11MMSH2EPCAM 3'end deletion66++++MSSBTaHG1
16MMSH2c.642_645del (p.Gin215X)66C(46)NDNDNDNDNDNA
5FMSH2c.793-?_1076+?del (Del exon 5-6)63UR(67), C(50), BR(72)+-tws+NDTURT1HG1
1MMSH6 50% carrier riskc.212-1G→A70++++NDBT2aHG2
9MMSH2c.942+2T→G74C(65)+-tws+NDBTaHG1
49MMSH6c.1-?_457+?del (Del exon 1-2)56UR(56), RP(57), ME(58), PR(57)+-++ND, RPCPT1HG1
67MMSH6c.3514dup (p.Arg1172fs)71UR(70), C(70)++++NDBTaLG1
60MMSH6c.651dup (p.Lys218X)73UR(73), PR(67), C(61)+-++NDTURTaLG1
48MMSH6c.3261del (p.Phe1088fs)84URx2(84), C(63)+-++NDBTaLG1
  • M, male; F, female; C, colon; UR, ureter; RP, renal pelvis; E, endometrial; PR, prostate; BR, breast; ES, esophageal; ME, melanoma; tws, tumor weaker than stroma; +, MMR protein immunohistochemical staining present; -, MMR protein immunohistochemical staining absent; MSS, microsatellite stable; MSI, microsatellite stable; MSI, microsatellite instability; TUR, transurethral resection; CP, cystoprostatectomy; B, biopsy; NA, not accessible; HG, high grade; LG, low grade; 1, papillary; 2, solid growth pattern.