Frequency of TERT promoter mutations in human cancers

SUPPLEMENTARY INFORMATION FOR JVINAGRE - NCOMMS-13-03296-A Supplementary Figure S1 - The panel illustrates the three mutations identified in this study and their location in chromosome 5 in relation to the TERT ATG translation start site. Supplementary Figure S2 - Bar plot indicating the number of cases with TERT mutations in BRAF-mutated and BRAF-wild-type conventional papillary thyroid carcinomas (cPTC) and melanomas. For both tumour types, the presence of TERT mutations is significantly associated with the presence of BRAF mutations (asterisks, Fisher’s exact test two-sided). Supplementary Table S1 - Genetic alterations in thyroid and melanoma cell lines Origin Cell line BRAF RAS RET GNAQ TERT Thyroid XTC-1 WT WT ND - WT HTH74 V600E WT ND - -124G>A K1 V600E WT ND - -124G>A BCPAP V600E WT ND - -124/-125GG>AA C643 WT HRASG13E ND - -124G>A 8505C V600E WT ND - -146G>A TPC-1 WT WT RET/PTC1 - -124G>A T238 WT TT C634W WT MZ-CRC-1 M918T WT Skin melanoma A375 V600E WT WT -146G>A BLM WT WT WT -146G>A G361 V600E WT WT -138/-139GG>AA Mewo WT WT WT -146G>A Uveal melanoma 92.1 WT WT Q209L WT OMM1 WT WT WT WT OMM2.3 WT WT Q209L WT Mel 202 WT WT Q209L WT Mel 270 WT WT Q209P WT Mel 285 WT WT WT WT *All the cell lines are deposited in the cell line bank from the IPATIMUP and were authenticated using DNA profile analysis, obtained with the PowerPlex 16 system (Promega, Madison, USA), according to ATCC and HSRRB available DNA profiles. Supplementary Table S2 - Genetic alterations in cell lines Origin Derivation Cell line TERT Colorectal Colon adenocarcinoma COLO-205 WT Colon adenocarcinoma Caco-2 WT Colon adenocarcinoma SW 480 WT Colon adenocarcinoma HT29 WT Colon adenocarcinoma HCT-15 WT Colon adenocarcinoma HCT-116 WT Colon adenocarcinoma SW48 WT Colon adenocarcinoma Co-115 WT Gastric Gastric adenocarcinoma AGS WT Gastric adenocarcinoma MKN28 WT Well-differentiated gastric carcinoma NCI-N87 WT Poorly-differentiated gastric carcinoma SNU-638 WT Poorly-differentiated gastric carcinoma MKN-45 WT Poorly-differentiated gastric carcinoma Metastasis KATO III WT Diffuse Gastric Carcinoma IPA220A WT Diffuse Gastric Carcinoma GP202 WT Breast Breast adenocarcinoma MDA-MB-231 -124G>A Breast adenocarcinoma MCF-7AZ WT Breast adenocarcinoma SKBR3 WT Breast adenocarcinoma MCF-7/6 WT Breast adenocarcinoma BT-549 -146G>A Breast adenocarcinoma BT-20 WT Breast adenocarcinoma MDA-MB-468 WT Breast adenocarcinoma SUM149 WT Kidney CCRCC Caki-2 -124G>A CCRCC 786-O -124G>A Leukemia Acute promyelocytic leukemia NB-4 WT Acute promyelocytic leukemia HL-60 WT Peripheral B Lymphocytes Lymphoblastoid cell lines GM20770 WT Lymphoblastoid cell lines GM20890 WT Lymphoblastoid cell lines GM11840 WT Lymphoblastoid cell lines GM19782 B WT Lymphoblastoid cell lines GM20515 WT Lymphoblastoid cell lines GM19777 WT Lymphoblastoid cell lines GM20797 WT Lymphoblastoid cell lines GM10847 B WT Lung Lung Adenocarcinoma A549 WT CNS Glioblastoma SF-767 WT *All the cell lines are deposited in the cell line bank from the IPATIMUP and were authenticated using DNA profile analysis, obtained with the PowerPlex 16 system (Promega, Madison, USA), according to ATCC and HSRRB available DNA profiles. Supplementary Table S3 – Summary of clinico-pathological and genetic data in 56 skin melanoma Case Code Melanoma subtype Age Gender Thickness (mm) BRAF NRAS TERT MEL1 Superficial spreading 74 M 1.20 Pos MEL2 Superficial spreading 36 F 0.95 MEL3 Superficial spreading NA F 0.50 V600E MEL4 Superficial spreading NA M 1.40 -146 G>A MEL5 Superficial spreading 46 F 3.10 MEL6 Nodular 52 F 0.90 MEL7 Nodular 59 M 3.20 V600E MEL8 Lentigo maligna 67 F 0.50 V600E MEL9 Nodular 54 F 16.00 MEL10 Nodular 33 M 19.50 V600E MEL11 Superficial spreading 57 F 3.65 -146 G>A MEL12 Lentigo maligna 79 F 0 V600E -146 G>A MEL13 Acral lentiginous 94 F 2.10 MEL14 Acral lentiginous 50 F 1.00 MEL15 Superficial spreading 49 M 10.00 Pos -124 G>A MEL16 Superficial spreading 55 M 2.30 MEL17 Nodular 82 F 3.50 V600E MEL18 Nodular 35 F 2.50 V600E -124 G>A MEL19 Superficial spreading 58 M 7.70 MEL20 Nodular 42 F 1.70 V600E -124 G>A MEL21 Nodular 61 F 4.40 -124 G>A MEL22 Acral lentiginous 69 M 4.00 MEL23 Superficial spreading 41 M 0 V600E MEL24 Acral lentiginous 72 F 0.70 MEL25 Superficial spreading . M 0.50 MEL26 Nodular 76 M 6.00 MEL27 Superficial spreading 66 M 0 -124 G>A MEL28 Superficial spreading 55 F 1.78 MEL29 Acral lentiginous 67 F 4.00 MEL30 Nodular 63 M 5.00 MEL31 Acral lentiginous 60 M 5.40 V600E Pos -124 G>A MEL32 Superficial spreading NA M 0.50 V600E -146 G>A MEL33 Acral lentiginous 71 M 5.20 MEL34 Superficial spreading 75 F 70.00 V600E -124 G>A MEL35 Nodular 69 F 7.00 V600E -146 G>A MEL36 Acral lentiginous 9 F 3.25 MEL37 Superficial spreading 39 F 2.30 MEL38 Acral lentiginous 68 M 4.50 MEL39 Acral lentiginous NA M 2.70 MEL40 Superficial spreading NA F 1.20 V600E -146 G>A MEL41 Superficial spreading 59 F 3.30 V600E MEL42 Acral lentiginous NA F 4.00 MEL43 Lentigo maligna NA M 5.90 Pos Supplementary Table S4 - Summary of clinico-pathological and genetic data in 118 gliomas Case Code Age Gender Diagnosis (Grade) TERT GLI1 4 F Pilocytic Astrocytoma (I) GLI2 27 M Pilocytic Astrocytoma (I) GLI3 22 M Pilocytic Astrocytoma (I) GLI4 31 F Pilocytic Astrocytoma (I) GLI5 27 M Pilocytic Astrocytoma (I) -124 G>A GLI6 18 M Pilocytic Astrocytoma (I) GLI7 30 F Pilocytic Astrocytoma (I) GLI8 12 F Pilocytic Astrocytoma (I) GLI9 NA NA Pilocytic Astrocytoma (I) GLI10 NA NA Pilocytic Astrocytoma (I) GLI11 NA NA Pilocytic Astrocytoma (I) GLI12 NA NA Pilocytic Astrocytoma (I) GLI13 NA NA Pilocytic Astrocytoma (I) GLI14 18 F Diffuse Astrocytoma (II) GLI15 NA NA Diffuse Astrocytoma (II) -124 G>A GLI16 38 M Diffuse Astrocytoma (II) GLI17 22 M Diffuse Astrocytoma (II) GLI18 50 M Diffuse Astrocytoma (II) GLI19 31 F Diffuse Astrocytoma (II) GLI20 30 M Diffuse Astrocytoma (II) GLI21 59 M Diffuse Astrocytoma (II) GLI22 NA NA Diffuse Astrocytoma (II) GLI23 53 F Diffuse Astrocytoma (II) GLI24 20 M Diffuse Astrocytoma (II) GLI25 69 M Diffuse Astrocytoma (II) -146 G>A GLI26 42 F Diffuse Astrocytoma (II) MEL44 Lentigo maligna NA F 0.50 MEL45 Acral lentiginous 68 F 2.20 V600E MEL46 Nodular 71 F 7.80 MEL47 Superficial spreading 59 M 1.20 MEL48 Superficial spreading NA M 0.35 MEL49 Melanoma nodular 42 M 20.00 V600E -124 G>A MEL50 Superficial spreading 61 F 4.30 V600E MEL51 Nodular 79 M 22.00 Pos -146 G>A MEL52 Lentigo maligna 61 F 3.40 MEL53 Acral lentiginous 75 M 6.10 MEL54 Superficial spreading 49 F 2.90 V600E -146 G>A MEL55 Acral lentiginous NA M 4.40 MEL56 Lentigo maligna 75 M 0.30 GLI27 27 F Diffuse Astrocytoma (II) GLI28 60 F Diffuse Astrocytoma (II) -124 G>A GLI29 NA NA Diffuse Astrocytoma (II) GLI30 NA NA Diffuse Astrocytoma (II) GLI31 NA NA Diffuse Astrocytoma (II) GLI32 NA NA Diffuse Astrocytoma (II) GLI33 NA NA Diffuse Astrocytoma (II) GLI34 72 F Oligodendroglioma (II) -124 G>A GLI35 9 M Oligodendroglioma (II) GLI36 33 M Oligodendroglioma (II) GLI37 42 F Oligodendroglioma (II) -124 G>A GLI38 46 F Oligodendroglioma (II) GLI39 45 F Oligodendroglioma (II) -124 G>A GLI40 43 M Oligodendroglioma (II) GLI41 53 M Oligodendroglioma (II) -146 G>A GLI42 53 F Oligodendroglioma (II) -124 G>A GLI43 54 F Oligodendroglioma (II) -124 G>A GLI44 43 F Oligodendroglioma (II) -124 G>A GLI45 34 M Oligodendroglioma (II) -146 G>A GLI46 40 M Oligodendroglioma (II) GLI47 45 F Oligodendroglioma (II) -124 G>A GLI48 NA NA Oligodendroglioma (II) GLI49 NA NA Oligodendroglioma (II) GLI50 NA NA Oligodendroglioma (II) GLI51 NA NA Oligodendroglioma (II) GLI52 NA NA Oligodendroglioma (II) GLI53 NA NA Oligodendroglioma (II) GLI54 NA NA Oligodendroglioma (II) GLI55 NA NA Oligodendroglioma (II) -124 G>A GLI56 65 M Anaplastic Oligodendroglioma (III) -124 G>A GLI57 47 F Anaplastic Oligodendroglioma (III) -124 G>A GLI58 65 F Anaplastic Oligodendroglioma (III) GLI59 50 M Anaplastic Oligodendroglioma (III) -146 G>A GLI60 36 F Anaplastic Oligodendroglioma (III) -124 G>A GLI61 53 M Anaplastic Oligodendroglioma (III) -146 G>A GLI62 65 M Anaplastic Oligodendroglioma (III) -146 G>A GLI63 47 M Anaplastic Oligodendroglioma (III) -124 G>A GLI64 50 M Anaplastic Oligodendroglioma (III) GLI65 70 F Anaplastic Oligodendroglioma (III) GLI66 40 M Anaplastic Oligodendroglioma (III) -124 G>A GLI67 67 F Anaplastic Oligodendroglioma (III) -124 G>A GLI68 64 F Anaplastic Oligodendroglioma (III) -146 G>A GLI69 44 M Anaplastic Oligodendroglioma (III) GLI70 42 F Anaplastic Oligodendroglioma (III) -124 G>A GLI71 68 F Anaplastic Oligodendroglioma (III) -124 G>A GLI72 NA NA Anaplastic Oligodendroglioma (III) GLI73 NA NA Anaplastic Oligodendroglioma (III) GLI74 NA NA Anaplastic Oligodendroglioma (III) GLI75 NA NA Anaplastic Oligodendroglioma (III) -124 G>A GLI76 NA NA Anaplastic Oligodendroglioma (III) GLI77 NA NA Anaplastic Oligodendroglioma (III) GLI78 NA NA Anaplastic Oligodendroglioma (III) GLI79 NA NA Anaplastic Oligodendroglioma (III) GLI80 56 M Glioblastoma (IV) -146 G>A GLI81 27 F Glioblastoma (IV) GLI82 54 F Glioblastoma (IV) -124 G>A GLI83 46 F Glioblastoma (IV) GLI84 77 M Glioblastoma (IV) -124 G>A GLI85 67 F Glioblastoma (IV) -146 G>A GLI86 50 F Glioblastoma (IV) -146 G>A GLI87 73 M Glioblastoma (IV) -146 G>A GLI88 57 M Glioblastoma (IV) -124 G>A GLI89 28 M Glioblastoma (IV) GLI90 51 F Glioblastoma (IV) -124 G>A GLI91 69 M Glioblastoma (IV) -146 G>A GLI92 53 M Glioblastoma (IV) GLI93 56 F Glioblastoma (IV) -124 G>A GLI94 66 M Glioblastoma (IV) -124 G>A GLI95 68 F Glioblastoma (IV) GLI96 58 F Glioblastoma (IV) GLI97 73 M Glioblastoma (IV) -124 G>A GLI98 61 F Glioblastoma (IV) GLI99 66 F Glioblastoma (IV) -124 G>A GLI100 60 F Glioblastoma (IV) -124 G>A GLI101 54 M Glioblastoma (IV) -124 G>A GLI102 66 F Glioblastoma (IV) -124 G>A GLI103 79 M Glioblastoma (IV) -124 G>A GLI104 31 M Glioblastoma (IV) GLI105 NA NA Glioblastoma (IV) -124 G>A GLI106 NA NA Glioblastoma (IV) GLI107 NA NA Glioblastoma (IV) -124 G>A GLI108 NA NA Glioblastoma (IV) -124 G>A GLI109 NA NA Glioblastoma (IV) -124 G>A GLI110 NA NA Glioblastoma (IV) -124 G>A GLI111 NA NA Glioblastoma (IV) GLI112 NA NA Glioblastoma (IV) GLI113 NA NA Glioblastoma (IV) -124 G>A GLI114 NA NA Glioblastoma (IV) GLI115 NA NA Glioblastoma (IV) -146 G>A GLI116 NA NA Glioblastoma (IV) GLI117 NA NA Glioblastoma (IV) GLI118 NA NA Glioblastoma (IV) Supplementary Table S5 – Comparison of the clinico-pathological features of tumours with and without TERT mutations Tumour type Clinical features All patients TERT wild type TERT mutated p value Thyroid* (n=263) Mean age at diagnosis, yr (±SD) Gender Male Female Mean tumour size, cm 48±17 61 (24%) 189 (76%) 3.5±3.4 46±16 50 (22%) 174 (78%) 3.4±3.4 62±13 11(42%) 15 (58%) 4.6±2.7 <0,0001 0,03 0,008 CNS (n=118) Mean age at diagnosis, yr (±SD) Gender Male Female 47±18 42 (49%) 43 (51%) 38±17 21 (51%) 20 (49%) 57±12 20 (47%) 23 (53%) <0,0001 NS Skin melanoma (n=56) Mean age at diagnosis, yr (±SD) Gender Male Female 60±16 26 (46%) 30 (54%) 60±14 19 (48%) 21 (52%) 63±12 7 (44%) 9 (56%) NS NS Bladder (n=82) Mean age at diagnosis, yr (±SD) Gender Male Female 63±10 66 (80%) 16 (20%) 65±12 24 (70%) 10 (30%) 63±12 42 (88%) 6 (12%) NS NS The numbers in parentheses indicate percentages. In some cases information regarding age, gender or tumour size was missing. *Only follicular cell-derived thyroid carcinomas: FTC, PTC, PDTC and ATC. Supplementary Table S6 – Clinico-pathological characteristics and TERT promoter mutation in the 399 thyroid samples analysed Histotypes No. Of cases Gender ratio (♀:♂) Mean age (years±SE) Tumour size (cm±SE) BRAFV600E mutation TERT n (%) Normal Thyroid 27 3,5:1 47,0 ± 14,8 NA 0 0 (0,0) Lymphocytic Thyroiditis 9 9:0 44,6 ± 15,7 NA 0 0 (0,0) Nodular Goiter 12 1,75:1 56,2 ± 13,4 NA 0 0 (0,0) Follicular Thyroid Adenoma Conventional 52 7:1 43,8 ± 12,1 3,5 ± 1,6 0 0 (0,0) Oncocytic Variant 8 7:0 47,0 ± 14,0 2,7 ± 1,2 0 0 (0,0) Follicular Thyroid Carcinoma Conventional 36 2,5:1 53,7 ± 14,7 4,5 ± 2,8 0 9 (25,0) Oncocytic Variant 28 5,5:1 51,4 ± 20,2 4,6 ± 3,6 0 0 (0,0) Papillary thyroid carcinoma Conventional 110 3,1:1 43,1 ± 16,2 2,6 ± 1,6 61 12 (10,9) Follicular Variant 39 3,9:1 45,8 ±14,7 2,6 ± 1,2 2 0 (0,0) Microcarcinoma 5 5:0 46,0 ±14,4 0,4 ± 0,4 1 0 (0,0) Mucoepidermoid Carcinoma 4 2:0 43,5 ± 33,2 NA 0 1 (25,0) Oncocytic Variant of PTC Conventional Pattern 4 4:0 45,3 ±11,1 2,8 ± 1,8 4 0 (0,0) Follicular Pattern 3 2:1 45,3 ±22,5 5,2 ± 3,9 1 0 (0,0) Warthin-like PTC 4 4:0 55,5 ±11,2 2,0 ± 0,8 4 0 (0,0) PDTC 14 1:1 57,0 ± 17,4 6,7 ± 2,8 1 2 (14,2) Anaplastic 16 1,3:1 62,1 ± 12,8 6,9 ± 3,1 5 2 (12,5) MTC 28 2,3:1 46,4 ± 16,7 3,0 ± 0,9 0 0 (0,0) THY263 58 F FTC Pos -124 G>A THY264 52 F FTC THY265 54 F FTC Pos THY266 57 F FHCC THY267 55 F FHCC THY268 56 F FHCC THY269 70 F FHCC THY270 NA NA FHCC THY271 19 F FHCC Pos THY272 24 F FHCC THY273 59 F FHCC THY274 78 F FHCC THY275 43 F FHCC THY276 63 F FHCC THY277 26 F FHCC THY278 26 F FHCC THY279 NA NA FHCC THY280 86 F FHCC THY281 53 F FHCC THY282 41 M FHCC THY283 29 M FHCC THY284 68 F FHCC THY285 77 F FHCC THY286 69 F FHCC THY287 41 M FHCC THY288 35 F FHCC THY289 59 F FHCC THY290 57 F FHCC THY291 23 F FHCC Pos THY292 36 M FHCC Pos THY293 86 F FHCC THY294 63 F PDTC THY295 NA NA PDTC THY296 58 M PDTC V600E THY297 68 F PDTC THY298 NA NA PDTC -124 G>A THY299 71 F PDTC THY300 52 F PDTC THY301 70 M PDTC -124 G>A THY302 64 M PDTC THY303 38 M PDTC THY304 80 M PDTC THY305 11 M PDTC THY306 52 F PDTC THY307 54 F PDTC Pos -146 G>A THY308 60 M Anaplastic V600E -124 G>A THY309 72 M Anaplastic THY310 NA NA Anaplastic V600E THY311 74 F Anaplastic V600E THY312 52 F Anaplastic THY313 55 M Anaplastic THY314 NA NA Anaplastic THY315 NA F Anaplastic THY316 56 F Anaplastic THY317 59 F Anaplastic THY318 75 F Anaplastic V600E THY319 82 F Anaplastic THY320 69 M Anaplastic V600E THY321 39 M Anaplastic THY322 70 M Anaplastic THY323 44 F Anaplastic -146 G>A THY324 63 M MTC THY325 NA NA MTC THY326 NA NA MTC THY327 32 F MTC THY328 NA NA MTC THY329 NA NA MTC THY330 NA NA MTC THY331 NA NA MTC THY332 NA NA MTC THY333 NA NA MTC THY334 68 F MTC THY335 NA NA MTC THY336 37 F MTC THY337 NA NA MTC THY338 71 F MTC THY339 40 M MTC THY340 NA NA MTC THY341 56 F MTC THY342 NA NA MTC THY343 38 F MTC THY344 NA NA MTC THY345 NA NA MTC THY346 23 M MTC THY347 NA NA MTC THY348 36 F MTC THY349 NA NA MTC THY350 NA NA MTC THY351 NA NA MTC Supplementary Table S8 – Comparison of the clinico-pathological features of conventional PTC with and without TERT mutations Tumour type Clinical features All patients TERT wild type TERT mutated p value Conventional Papillary Thyroid Carcinoma (n=110) Mean age at diagnosis, yr (±SD) Gender Male Female Mean tumour size, cm LN metastasis (positive/total) BRAF mutation (positive/total) NRAS mutation (positive/total) 43±16 26 (25%) 80 (75%) 2,6±1,6 67 (73%) 61 (57%) 4(7%) 41±15 18 (19%) 76 (81%) 2,4±1,4 56 (68%) 49 (50%) 4 (10%) 63±14 8 (67%) 4 (33%) 4,3±2,2 11 (100%) 12 (100%) 0 (0%) <0,0001 0,0012 0,0004 0,03 0,001 NS Supplementary Table S9 - Summary of clinico-pathological and genetic data in 82 bladder cancers Case Code Age Gender Stage Grade TERT BC1 66 M Ta Low Grade -146 G>A BC2 NA M T1 Low Grade BC3 80 M Ta Low Grade -146 G>A BC4 70 M Ta Low Grade BC5 67 M Ta Low Grade -124 G>A BC6 80 M Ta Low Grade -124 G>A BC7 65 M Ta Low Grade -124 G>A BC8 40 M Ta Low Grade -124 G>A BC9 36 M T1 Low Grade -124 G>A BC10 64 M Ta Low Grade BC11 65 M Ta Low Grade -124 G>A BC12 47 F Ta Low Grade BC13 54 M Ta Low Grade -124 G>A BC14 41 M T1 Low Grade BC15 50 M T1 Low Grade -124 G>A BC16 67 M Ta Low Grade -124 G>A BC17 97 M Ta Low Grade -146 G>A BC18 40 F Ta Low Grade -124 G>A BC19 60 M Ta Low Grade BC20 70 M T1 Low Grade -146 G>A BC21 46 F Ta Low Grade BC22 61 F Ta High Grade -146 G>A BC23 NA M T1 High Grade -124 G>A BC24 59 M T1 High Grade -124 G>A BC25 77 M T1 High Grade -146 G>A BC26 65 M T1 High Grade -124 G>A BC27 83 F T1 High Grade -124 G>A BC28 64 M T1 High Grade BC29 NA M NA High Grade -124 G>A BC30 NA M NA High Grade -146 G>A BC31 67 M T1 High Grade -124 G>A BC32 NA M Ta High Grade BC33 NA M T1 High Grade BC34 NA M T1 High Grade BC35 NA M T1 High Grade -146 G>A BC36 74 M T1 High Grade -124 G>A BC37 75 M Ta High Grade BC38 76 F T1 High Grade BC39 45 M Ta High Grade BC40 NA M T1 High Grade BC41 76 F T1 High Grade BC42 NA M T1 High Grade -124 G>A BC43 72 F Ta High Grade BC44 NA F T1 High Grade BC45 67 M T1 High Grade -124 G>A BC46 NA M T1 High Grade -146 G>A BC47 NA M T1 High Grade -146 G>A BC48 51 M T1 High Grade -146 G>A BC49 50 M Ta High Grade -124 G>A BC50 74 M T1 High Grade -124 G>A BC51 70 F T1 High Grade -124 G>A BC52 50 M T1 High Grade -146 G>A BC53 68 M T1 High Grade -124 G>A BC54 56 M T1 High Grade BC55 53 M T1 High Grade BC56 60 F T1 High Grade BC57 74 M T1 High Grade BC58 73 M T1 High Grade BC59 60 F T1 High Grade BC60 64 F T1 High Grade BC61 74 M T1 High Grade BC62 51 M T1 High Grade BC63 63 M T1 High Grade -124 G>A BC64 57 M Ta High Grade -146 G>A BC65 67 F Ta High Grade -146 G>A BC66 58 M Ta High Grade -124 G>A BC67 66 M T1 High Grade -124 G>A BC68 64 M T1 High Grade BC69 70 M T1 High Grade -146 G>A BC70 68 M Ta High Grade -146 G>A BC71 64 M T1 High Grade BC72 59 F T1 High Grade -124 G>A BC73 63 M T1 High Grade -124 G>A BC74 66 M Ta High Grade BC75 76 M T1 High Grade -124 G>A BC76 71 M T1 High Grade BC77 61 M T1 High Grade -124 G>A BC78 76 M T1 High Grade -124 G>A BC79 61 M T1 High Grade BC80 68 F T1 High Grade BC81 72 M T1 High Grade BC82 71 M T1 High Grade -146 G>A Supplementary Table S10 - Summary of clinico-pathological and genetic data in 26 kidney cancers CCRC – Clear cell renal carcinoma; CromRCC – chromophobe renal cell cancer; PRCC – Papillary renal cell carcinoma; Case code Diagnosis Age Gender Nuclear grade Staging TERT RCC1 CCRCC 68 M RCC2 CCRCC 44 M RCC3 CCRCC 49 M RCC4 CCRCC 49 M 3 pT1a Nx Mx RCC5 CCRCC 57 M 2 pT1a Nx Mx RCC6 CCRCC 48 F 2 pT1a Nx Mx RCC7 CCRCC 48 F 2 pT1a Nx Mx RCC8 CCRCC 68 M 2 pT3a Nx Mx RCC9 CCRCC 50 M 4 pT3b Nx M0 RCC10 CCRCC 50 M 4 pT3b Nx M1 RCC11 CCRCC 62 M 3 pT2 Nx Mx RCC12 CCRCC 62 M 3 pT2 Nx Mx RCC13 CromRCC 59 M RCC14 CromRCC 77 F 2 pT2 Nx Mx RCC15 CromRCC 77 F 2 pT2 Nx Mx RCC16 CromRCC 72 M 4 pT2 Nx Mx RCC17 PRCC NA M RCC18 PRCC 61 M RCC19 PRCC 26 F 2 pT2 N2 MX RCC20 PRCC 78 M 2 pT1b Nx Mx RCC21 PRCC 34 M 1 pT1a Nx Mx RCC22 PRCC 60 M pT1b Nx Mx RCC23 PRCC 60 M pT1b Nx Mx RCC24 PRCC 71 M RCC25 PRCC 71 M RCC26 PRCC 75 M 3 pT1a Nx Mx Supplementary Table S11 - Summary of clinico-pathological and genetic data in 17 phaeochromocytoma Case code Age Gender Tumor size (cm) MEN/NF/VHL TERT PHEO1 51 M 4,5 NA PHEO2 56 M 7 NA PHEO3 54 F 4 NA PHEO4 46 F 7 NA PHEO5 53 F 2,5 NA PHEO6 42 M 8,5 NA PHEO7 20 F 1,5 MEN2 PHEO8 55 F 3,5 NA PHEO9 19 F 7 NA PHEO10 56 M 4,5 NA PHEO11 62 M 6 NA PHEO12 45 M 7 NA PHEO13 73 F 5 NA PHEO14 57 M 3,5 NA PHEO15 61 M 1,7 NA PHEO16 20 F 6 MEN2 PHEO17 46 F 10 NF1 Supplementary Table S12 - Summary of clinico-pathological and genetic data in 36 gastrointestinal stromal tumour Case code Age Sex Tumor Size (cm) KIT PDGFRA TERT GIST1 80 F exon 11 N567K, L576V, 568del575 GIST2 59 M 1,2 exon 11 V560D GIST3 52 M 9,5 exon 11 69997:T>A GIST4 67 M 17 exon 11 W557F delK558 GIST5 58 F 3,5 exon 11 556del557 GIST6 54 M 19 exon 11 V559D GIST7 79 F 7 exon 11 del557-558 GIST8 46 M 5,5 exon 11 del 550-557, ins550-551 GIST9 54 M 3,1 exon 11 552del557, K550Q, P551R GIST10 76 F 6,7 exon 18 D842V GIST11 55 F 6,5 exon 11 del560V GIST12 43 M 14,5 exon 11 564del578 GIST13 73 F 0,8 exon 11 delV559 GIST14 62 M 2,5 exon 11 del_K558 GIST15 38 M 3,5 exon 11 V560E GIST16 88 F 23 exon 11 L576P GIST17 81 F exon 11 L576P GIST18 78 F exon 12 583del586 GIST19 40 F 4 exon 9 502-503dup GIST20 63 F 9 exon 9 502-503dup GIST21 75 M 8 exon 11 Q575H, P577T, delL576 GIST22 59 F exon 11 552del570 GIST23 78 F 24 exon 11 551del553 GIST24 58 M 13,5 exon 11 557del558 GIST25 76 M 14 exon 9 502-503dup GIST26 20 F 2 GIST27 77 F 6 GIST28 74 M 3 GIST29 58 F 3,5 GIST30 72 F 8 GIST31 62 M 6,5 GIST32 73 M 6 GIST33 66 F 14 GIST34 63 F 6,5 GIST35 55 M 4 GIST36 82 F 7