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1Department of Genome Medicine and Science, Gachon University College of Medicine, Incheon, Korea
2Gachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Korea
3Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
4Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, Korea
5Department of Surgery, Kyung Hee University College of Medicine, Seoul, Korea
6Department of Surgery, Koo Hospital, Daegu, Korea
7Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Copyright © 2022 The Korean Society of Coloproctology
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
CONFLICT OF INTEREST
No potential conflict of interest relevant to this article was reported.
Gene (somatic mutation frequency in tumor samples)a |
---|
AHNAK2 (60.0%), ADAMTSL1 (40.0%), ANKRD36C (40.0%), ASIC4 (40.0%), C11orf80 (40.0%), DCAF8L2 (40.0%), DEAF1 (40.0%), FTSJ3 (40.0%), FUT9 (40.0%), (40.0%), MIB2 (40.0%), MUC19 (40.0%), MUC4 (40.0%), PAPD5 (40.0%), SPATA31A6 (40.0%), SPATA31D1 (40.0%), STOX2 (40.0%), TTN (40.0%), USP42 (40.0%), WAS (40.0%), ZC3H12A (40.0%), ADGRA2, ADGRB2, ADRA2B, AJUBA, ANKEF1, AP5Z1, APOL4, ARHGAP45, ARHGEF40, GPRASP2, TTLL3, ASPSCR1, BAGE2, BCLAF1, BRINP2, BTG4, C16orf82, CAPN15, CEP162, CIT, CNIH1, DDX19A, ERN2, GATB, GPR179, GUCY2D, HMCN2, HOXC13, IFT20, INTS14, JADE3, KIAA1549, KIAA2012, KIR3DL1, KMT5A, LENG9, LILRA6, LILRB3, LMTK3, LOC728392, LRRK1, LY75, MELTF, MROH2A, MROH9, MS4A4E, MTCL1, MUC3A, MYO15B, NAXE, NBPF10, NECTIN1, NECTIN2, OR4C5, PERM1, PPP1R10, PRRC2C, R3HDM4, RABL6, RASGRP3, RBBP8NL, RFLNB, RNF212B, RPLP1, RPP25L, SELENOO, SPATA31C2, SPPL2C, SPTSSB, TENM3, TICRR, TNPO3, TOPORS, TPM4, TRAPPC12, TSACC, TUBB4A, TWNK, TYW1B, YBX3, ZBED8, ZNF112, ZNF177, ZNF714 |
Gene |
Frequency of somatic mutation (%) |
|
---|---|---|
Dysplasia-initiated tumor | COSMIC | |
TP53 | 80 | 31 |
APC | 0 | 32 |
KRAS | 0 | 25 |
Gene |
Frequency of somatic mutation (%) |
|
---|---|---|
Dysplasia-initiated tumor | COSMIC | |
ADAMTSL1 | 40 | 3 |
MUC3A | 20 | 0 |
MUC4 | 40 | 3 |
MUC19 | 40 | 1 |
Patient No. |
No. of tissues |
No. of common somatic mutations (% from tumor mutations) | |
---|---|---|---|
Tumor | Dysplasia | ||
S1 | 120 | 64 | 18 (15.0) |
S2 | 409 | 491 | 232 (56.7) |
S3 | 103 | 97 | 19 (18.4) |
S4 | 45 | 32 | 6 (13.3) |
S5 | 226 | 195 | 21 (9.3) |
Characteristic | Data | Patient No. |
||||
---|---|---|---|---|---|---|
S1 | S2 | S3 | S4 | S5 | ||
Clinical characteristic | ||||||
Sex | Female | Male | Male | Female | Female | |
Age at diagnosis (yr) | 24.0 | 15 | 32 | 40 | 14 | 19 |
Age at first surgery (yr) | 36.8 | 33 | 49 | 50 | 22 | 30 |
Period between diagnosis and first surgery (yr) | 12.8 | 18 | 17 | 10 | 8 | 11 |
Family history | 0 (0) | – | – | – | – | – |
Extracolic manifestation | 0 (0) | – | – | – | – | – |
Primary sclerosing cholangitis | 0 (0) | – | – | – | – | – |
Preoperative steroid therapy | 4 (80.0) | + | + | + | + | – |
Characteristics on UC-associated CRC | ||||||
Location | ||||||
Right colon | 3 (60.0) | + | + | + | ||
Left colon | 2 (40.0) | + | + | |||
Rectum | 0 (0) | |||||
CEA (ng/mL), at the time of surgery | ||||||
<6 | 5 (100) | + | + | + | + | + |
≥ 6 | 0 (0) | |||||
Tumor size (cm) | 3.96 | 2.8 | 1.2 | 1.8 | 7.5 | 6.5 |
Histology | ||||||
Well-differentiated | 4 (80.0) | + | + | + | + | |
Moderately differentiated | 1 (20.0) | + | ||||
Poorly differentiated | 0 (0) | |||||
Mucinous | 0 (0) | |||||
Stage | ||||||
I | 2 (40.0) | + | + | |||
II | 3 (60.0) | + | + | + | ||
III | 0 (0) | |||||
IV | 0 (0) | |||||
Curability of the surgery | ||||||
R0 | 5 (100) | + | + | + | + | + |
R1 | 0 (0) | |||||
R2 | 0 (0) |
Gene (somatic mutation frequency in tumor samples) |
---|
AHNAK2 (60.0%), ADAMTSL1 (40.0%), ANKRD36C (40.0%), ASIC4 (40.0%), C11orf80 (40.0%), DCAF8L2 (40.0%), DEAF1 (40.0%), FTSJ3 (40.0%), FUT9 (40.0%), (40.0%), MIB2 (40.0%), MUC19 (40.0%), MUC4 (40.0%), PAPD5 (40.0%), SPATA31A6 (40.0%), SPATA31D1 (40.0%), STOX2 (40.0%), TTN (40.0%), USP42 (40.0%), WAS (40.0%), ZC3H12A (40.0%), ADGRA2, ADGRB2, ADRA2B, AJUBA, ANKEF1, AP5Z1, APOL4, ARHGAP45, ARHGEF40, GPRASP2, TTLL3, ASPSCR1, BAGE2, BCLAF1, BRINP2, BTG4, C16orf82, CAPN15, CEP162, CIT, CNIH1, DDX19A, ERN2, GATB, GPR179, GUCY2D, HMCN2, HOXC13, IFT20, INTS14, JADE3, KIAA1549, KIAA2012, KIR3DL1, KMT5A, LENG9, LILRA6, LILRB3, LMTK3, LOC728392, LRRK1, LY75, MELTF, MROH2A, MROH9, MS4A4E, MTCL1, MUC3A, MYO15B, NAXE, NBPF10, NECTIN1, NECTIN2, OR4C5, PERM1, PPP1R10, PRRC2C, R3HDM4, RABL6, RASGRP3, RBBP8NL, RFLNB, RNF212B, RPLP1, RPP25L, SELENOO, SPATA31C2, SPPL2C, SPTSSB, TENM3, TICRR, TNPO3, TOPORS, TPM4, TRAPPC12, TSACC, TUBB4A, TWNK, TYW1B, YBX3, ZBED8, ZNF112, ZNF177, ZNF714 |
Gene | Frequency of somatic mutation (%) |
|
---|---|---|
Dysplasia-initiated tumor | COSMIC | |
TP53 | 80 | 31 |
APC | 0 | 32 |
KRAS | 0 | 25 |
Gene | Frequency of somatic mutation (%) |
|
---|---|---|
Dysplasia-initiated tumor | COSMIC | |
ADAMTSL1 | 40 | 3 |
MUC3A | 20 | 0 |
MUC4 | 40 | 3 |
MUC19 | 40 | 1 |
Patient No. | No. of tissues |
No. of common somatic mutations (% from tumor mutations) | |
---|---|---|---|
Tumor | Dysplasia | ||
S1 | 120 | 64 | 18 (15.0) |
S2 | 409 | 491 | 232 (56.7) |
S3 | 103 | 97 | 19 (18.4) |
S4 | 45 | 32 | 6 (13.3) |
S5 | 226 | 195 | 21 (9.3) |
Patient | Biological function | Hypergeometric P-value |
---|---|---|
S1 | (GO) Positive regulation of execution phase of apoptosis | < 0.001 |
(GO) Cellular response to glucose starvation | < 0.001 | |
(GO) Response to external stimulus | < 0.001 | |
(GO) Inflammatory response | 0.0016 | |
(GO) Replicative senescence | 0.0063 | |
S2 | (GO) Central nervous system development | < 0.001 |
(GO) Response to external stimulus | < 0.001 | |
(GO) Negative regulation of peptidase activity | < 0.001 | |
(GO) Regulation of cilium assembly | < 0.001 | |
(Reactome) ZINC transporters | 0.0046 | |
S3 | (GO) Positive regulation of histone deacetylation | 2.94E-05 |
(GO) Positive regulation of chromatin modification | 0.0011 | |
(GO) Regulation of apoptotic signaling pathway | 0.0012 | |
(Reactome) Signaling by NOTCH | 0.0016 | |
(GO) Inflammatory response | 0.0022 | |
S4 | (GO) Central nervous system development | < 0.001 |
(GO) Cell fate commitment | < 0.001 | |
(Reactome) Signaling by NOTCH3 | 0.0022 | |
(Reactome) NOTCH - HLH transcription pathway | 0.0024 | |
(GO) Positive T-cell selection | 0.0039 | |
S5 | (GO) Replicative senescence | < 0.001 |
(BioCarta) Telomerase pathway | < 0.001 | |
(GO) Cell cycle arrest | < 0.001 | |
(GO) Regulation of DNA-templated transcription in response to stress | < 0.001 | |
(PID) C-Myc activation pathway | 0.0011 |
Values are presented as mean or number (%). UC, ulcerative colitis; CRC, colorectal cancer; CEA, carcinoembryonic antigen.
COSMIC database, Catalogue of Somatic Mutations in Cancer database. Genes without specified mutation frequencies have mutation frequencies of 20.0% (1 out of the 5 patients).
COSMIC database, Catalogue of Somatic Mutations in Cancer database.
COSMIC database, Catalogue of Somatic Mutations in Cancer database.
GO, Gene Ontology; PID, Pathway Interaction Database.