1Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Korea
2Division of Gastroenterology, Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea
© Copyright 2024. Korean Association for the Study of Intestinal Diseases.
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.
Funding Source
The authors received no financial support for the research, authorship, and/or publication of this article.
Conflict of Interest
No potential conflict of interest relevant to this article was reported.
Data Availability Statement
Not applicable.
Additional Contributions
Conceptualization: Kim HM. Data curation: Kim HM. Supervision: Kim TI. Writing - original draft: Kim HM. Writing - review & editing: Kim TI. Approval of final manuscript: all authors.
Author Contributions
We express our gratitude to Jihoon Kim (Yonsei University Wonju College of Medicine) for his careful formatting of the manuscript to meet the journal’s requirements.
Name | Clinical criteria | |
---|---|---|
Amsterdam criteria II [20] | Each of the following criteria must be fulfilled: | |
1. Three or more relatives with an HNPCC-associated cancer.a | ||
2. Two or more successive generations affected. | ||
3. One or more diagnosed before the age of 50 years. | ||
4. One should be a first-degree relative of the other two. | ||
5. Familial adenomatous polyposis should be excluded. | ||
6. Tumors should be verified by pathologic examination. | ||
The revised Bethesda guidelines [19] | Tumors from individuals should be tested for microsatellite instability in the following situations. | |
Requires at least one of the following: | ||
1. Colorectal cancer diagnosed in a patient who is less than 50 years of age. | ||
2. Presence of synchronous, metachronous colorectal, or other HNPCC-associated tumorsb, regardless of age. | ||
3. Colorectal cancer with the high level of microsatellite instability histologyc diagnosed in a patient who is less than 60 years of age. | ||
4. Colorectal cancer diagnosed in one or more first-degree relatives with an HNPCC-related tumor, with one of the cancers being diagnosed under age 50 years. | ||
5. Colorectal cancer diagnosed in 2 or more first- or second-degree relatives with HNPCC-related tumors, regardless of age. |
a Large bowel, endometrium, small bowel, ureter, or renal pelvis.
b Endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (usually glioblastoma as seen in Turcot syndrome) tumors, sebaceous gland adenomas and keratoacanthomas in Muir-Torre syndrome, and carcinoma of the small bowel.
c Presence of tumor infiltrating lymphocytes, Crohn’s-like lymphocytic reaction, mucinous/signet-ring differentiation, or medullary growth pattern.
Cancer | Modality | Recommendation | NCCN [10] | BSG/ACPGBI/UKCGG 2020 [6] | JSCCR 2020 [5] | ACG 2015 [26] |
---|---|---|---|---|---|---|
Colorectal cancer | Colonoscopy | Starting age | 20–25 years | 25 years for MLH1 and MSH2 mutation carriers | 20–25 years | 20–25 years |
2–5 years prior to the earliest colorectal cancer if diagnosed before age 25 years | 35 years for MSH6 and PMS2 mutation carriers | |||||
Interval | 1–2 yearly | 2 yearly until age 75 years | 1–2 yearly | 2 yearly | ||
1 yearly in confirmed mutation carriers | ||||||
Endometrial cancer | Endometrial biopsy | Starting age | 30–35 years | 30–35 years | 30–35 years | |
Interval | 1–2 yearly | 1 yearly | 1 yearly | |||
Total hysterectomy | A risk-reducing option | |||||
Timing of total hysterectomy can be individualized | ||||||
Ovarian cancer | Transvaginal ultrasound | Starting age | Data do not support routine ovarian cancer screening | 30–35 years | 30–35 years | |
Interval | 1 yearly | 1 yearly | ||||
BSO | A risk-reducing option | LS mutation carriers and who have finished child bearing, optimally at age 40–45 years | ||||
Timing of BSO should be individualized | ||||||
Gastric cancer | EGD | Starting age | 30–40 years | No convincing evidence to support the utility of gastric surveillance | 30–35 years | 30–35 years |
Interval | 2–4 yearly | 1–3 yearly | 3–5 yearly | |||
Helicobacter pylori | Screening and eradication | Screening and eradication | Screening and eradication | Treatment when found | ||
Urothelial cancer | Urinalysis (or urine cytology) | Starting age | No clear evidence | 30–35 years | Not recommended unless there is a family history of the specific cancers | |
30–35 years | ||||||
Interval | 1 yearly | 1 yearly | ||||
Pancreatic cancer | MRI/MRCP/EUS | Starting age | 50 years with family history | Not recommended unless there is a family history of the specific cancers | ||
Interval | Annual | |||||
Prostate cancer | PSA | Starting age | 40 years | Not recommended unless there is a family history of the specific cancers | ||
Digital rectal examination | ||||||
Interval | Annual |
HNPCC, hereditary non-polyposis colorectal cancer; NCCN, National Comprehensive Cancer Network; BSG, British Society of Gastroenterology; ACPGBI, Association of Coloproctology of Great Britain and Ireland; UKCGG, United Kingdom Cancer Genetics Group; JSCCR, Japanese Society for the Cancer of the Colon and Rectum; ACG, American College of Gastroenterology; BSO, bilateral salpingo-oophorectomy; LS, Lynch syndrome; EGD, esophagogastroduodenoscopy; MRI, magnetic resonance imaging; MRCP, magnetic resonance cholangiopancreatography; EUS, endoscopic ultrasound; PSA, prostatespecific antigen.
Modality | Recommendation | NCCN [10] | ASGE 2020 [26] | BSG/ACPGBI/UKCGG 2020 [6] | JSCCR 2020 [5] | ACG 2015 [33] |
---|---|---|---|---|---|---|
Colonoscopy | Starting age at screening | 10–15 years | 10–2 years | 12–14 years | 10 years | At puberty |
Surveillance interval | 1 yearly | 1–2 yearly | 1–3 yearly | 1–2 yearly (AFAP: 2–3 yearly) | 1 yearly | |
Sigmoidoscopy after colectomy with IRA or total proctocolectomy with IPAA | Starting age at screening | IRA: 6 months to 1 yearly | Subtotal colectomy: 6 months after surgery | IRA: 6 monthly | ||
IPAA: 6 months to 1 yearly | Total colectomy: 1 year after surgery | IPAA: 1 yearly | ||||
Surveillance interval | IRA: 6 months to 1 yearly | Subtotal colectomy: 6 months to 1 yearly | 1–3 yearly | |||
IPAA: 6 months to 1 yearly | Total colectomy: 1–2 yearly | |||||
Upper gastrointestinal endoscopy (duodenal or periampullary cancer) | Starting age at screening | 20–25 years | 20–25 years or before colectomy | 25 years | 20–25 years | Age 25–30 years |
Surveillance interval | follow-up intervals based on the Spigelman stage | Every 0.5–4 years depending on Spigelman stage | ||||
Upper gastrointestinal endoscopy (stomach cancer) | Starting age at screening | Need for specialized surveillance or surgery should be considered in presence of high-risk histologic features | 1 yearly | |||
Surveillance interval | ||||||
Jejunal ileal adenoma or cancer | Data to support any recommendation are lacking | |||||
Thyroid ultrasound | Starting age at screening | Late teenage years | Late teenage years | |||
Surveillance interval | 2–5 yearly | 1 yearly |
NCCN, National Comprehensive Cancer Network; ASGE, American Society for Gastrointestinal Endoscopy; BSG, British Society of Gastroenterology; ACPGBI, Association of Coloproctology of Great Britain and Ireland; UKCGG, United Kingdom Cancer Genetics Group; JSCCR, Japanese Society for the Cancer of the Colon and Rectum; ACG, American College of Gastroenterology; AFAP, atypical familial adenomatous polyposis; IRA, ileorectal anastomosis; IPAA, ileal pouch-anal anastomosis.
Factor |
Point |
|||
---|---|---|---|---|
0 | 1 | 2 | 3 | |
Polyp number | 0 | <4 | 5–20 | > 20 |
Size (mm) | - | 1–4 | 5–10 | > 10 |
Histology | No adenoma | Tubular adenoma | Tubulovillous adenoma | Villous adenoma |
Dysplasia | No dysplasia | Low grade | - | High grade |
Spigelman stage | Spigelman score | Recommended frequency of surveillance |
---|---|---|
0 | 0 | Every 3–5 yr |
I | 1–4 | Every 2–3 yr |
II | 5–6 | Every 1–3 yr |
III | 7–8 | Every 6–12 mo |
IV | 9–12 | Expert surveillance every 3–6 mo |
Surgery |
Hereditary colorectal cancer | Inheritance pattern | Gene mutation |
---|---|---|
Lynch syndrome (LS) | Autosomal dominant | MLH1, MSH2, MSH6, PMS2, EPCAM |
Familial adenomatosis polyposis (FAP) | Autosomal dominant | APC |
MUTYH-associated polyposis syndromes (MAP) | Autosomal recessive | MUTYH |
Juvenile polyposis syndrome (JPS) | Autosomal dominant | BMPR1A, SMAD4 |
Peutz-Jeghers syndrome (PJS) | Autosomal dominant | STK11/LKB1 |
Cowden syndrome (CS) | Autosomal dominant | PTEN |
Polymerase proofreading-associated polyposis (PPAP) | Autosomal dominant | POLE, POLD1 |
Types of genetic test | Example |
---|---|
Testing for only one presumed causative gene | APC of familial adenomatosis polyposis |
Testing for more than one presumed causative gene | MLH1/MSH2/MSH6/PMS2/EPCAM for Lynch syndrome |
Multigene panel testing | Multiple genes involved in hereditary cancer syndromes |
Whole exome sequencing |
Name | Clinical criteria | |
---|---|---|
Amsterdam criteria II [20] | Each of the following criteria must be fulfilled: | |
1. Three or more relatives with an HNPCC-associated cancer. |
||
2. Two or more successive generations affected. | ||
3. One or more diagnosed before the age of 50 years. | ||
4. One should be a first-degree relative of the other two. | ||
5. Familial adenomatous polyposis should be excluded. | ||
6. Tumors should be verified by pathologic examination. | ||
The revised Bethesda guidelines [19] | Tumors from individuals should be tested for microsatellite instability in the following situations. | |
Requires at least one of the following: | ||
1. Colorectal cancer diagnosed in a patient who is less than 50 years of age. | ||
2. Presence of synchronous, metachronous colorectal, or other HNPCC-associated tumors |
||
3. Colorectal cancer with the high level of microsatellite instability histology |
||
4. Colorectal cancer diagnosed in one or more first-degree relatives with an HNPCC-related tumor, with one of the cancers being diagnosed under age 50 years. | ||
5. Colorectal cancer diagnosed in 2 or more first- or second-degree relatives with HNPCC-related tumors, regardless of age. |
Cancer | Modality | Recommendation | NCCN [10] | BSG/ACPGBI/UKCGG 2020 [6] | JSCCR 2020 [5] | ACG 2015 [26] |
---|---|---|---|---|---|---|
Colorectal cancer | Colonoscopy | Starting age | 20–25 years | 25 years for MLH1 and MSH2 mutation carriers | 20–25 years | 20–25 years |
2–5 years prior to the earliest colorectal cancer if diagnosed before age 25 years | 35 years for MSH6 and PMS2 mutation carriers | |||||
Interval | 1–2 yearly | 2 yearly until age 75 years | 1–2 yearly | 2 yearly | ||
1 yearly in confirmed mutation carriers | ||||||
Endometrial cancer | Endometrial biopsy | Starting age | 30–35 years | 30–35 years | 30–35 years | |
Interval | 1–2 yearly | 1 yearly | 1 yearly | |||
Total hysterectomy | A risk-reducing option | |||||
Timing of total hysterectomy can be individualized | ||||||
Ovarian cancer | Transvaginal ultrasound | Starting age | Data do not support routine ovarian cancer screening | 30–35 years | 30–35 years | |
Interval | 1 yearly | 1 yearly | ||||
BSO | A risk-reducing option | LS mutation carriers and who have finished child bearing, optimally at age 40–45 years | ||||
Timing of BSO should be individualized | ||||||
Gastric cancer | EGD | Starting age | 30–40 years | No convincing evidence to support the utility of gastric surveillance | 30–35 years | 30–35 years |
Interval | 2–4 yearly | 1–3 yearly | 3–5 yearly | |||
Helicobacter pylori | Screening and eradication | Screening and eradication | Screening and eradication | Treatment when found | ||
Urothelial cancer | Urinalysis (or urine cytology) | Starting age | No clear evidence | 30–35 years | Not recommended unless there is a family history of the specific cancers | |
30–35 years | ||||||
Interval | 1 yearly | 1 yearly | ||||
Pancreatic cancer | MRI/MRCP/EUS | Starting age | 50 years with family history | Not recommended unless there is a family history of the specific cancers | ||
Interval | Annual | |||||
Prostate cancer | PSA | Starting age | 40 years | Not recommended unless there is a family history of the specific cancers | ||
Digital rectal examination | ||||||
Interval | Annual |
Modality | Recommendation | NCCN [10] | ASGE 2020 [26] | BSG/ACPGBI/UKCGG 2020 [6] | JSCCR 2020 [5] | ACG 2015 [33] |
---|---|---|---|---|---|---|
Colonoscopy | Starting age at screening | 10–15 years | 10–2 years | 12–14 years | 10 years | At puberty |
Surveillance interval | 1 yearly | 1–2 yearly | 1–3 yearly | 1–2 yearly (AFAP: 2–3 yearly) | 1 yearly | |
Sigmoidoscopy after colectomy with IRA or total proctocolectomy with IPAA | Starting age at screening | IRA: 6 months to 1 yearly | Subtotal colectomy: 6 months after surgery | IRA: 6 monthly | ||
IPAA: 6 months to 1 yearly | Total colectomy: 1 year after surgery | IPAA: 1 yearly | ||||
Surveillance interval | IRA: 6 months to 1 yearly | Subtotal colectomy: 6 months to 1 yearly | 1–3 yearly | |||
IPAA: 6 months to 1 yearly | Total colectomy: 1–2 yearly | |||||
Upper gastrointestinal endoscopy (duodenal or periampullary cancer) | Starting age at screening | 20–25 years | 20–25 years or before colectomy | 25 years | 20–25 years | Age 25–30 years |
Surveillance interval | follow-up intervals based on the Spigelman stage | Every 0.5–4 years depending on Spigelman stage | ||||
Upper gastrointestinal endoscopy (stomach cancer) | Starting age at screening | Need for specialized surveillance or surgery should be considered in presence of high-risk histologic features | 1 yearly | |||
Surveillance interval | ||||||
Jejunal ileal adenoma or cancer | Data to support any recommendation are lacking | |||||
Thyroid ultrasound | Starting age at screening | Late teenage years | Late teenage years | |||
Surveillance interval | 2–5 yearly | 1 yearly |
Factor | Point |
|||
---|---|---|---|---|
0 | 1 | 2 | 3 | |
Polyp number | 0 | <4 | 5–20 | > 20 |
Size (mm) | - | 1–4 | 5–10 | > 10 |
Histology | No adenoma | Tubular adenoma | Tubulovillous adenoma | Villous adenoma |
Dysplasia | No dysplasia | Low grade | - | High grade |
Spigelman stage | Spigelman score | Recommended frequency of surveillance |
---|---|---|
0 | 0 | Every 3–5 yr |
I | 1–4 | Every 2–3 yr |
II | 5–6 | Every 1–3 yr |
III | 7–8 | Every 6–12 mo |
IV | 9–12 | Expert surveillance every 3–6 mo |
Surgery |
Large bowel, endometrium, small bowel, ureter, or renal pelvis. Endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (usually glioblastoma as seen in Turcot syndrome) tumors, sebaceous gland adenomas and keratoacanthomas in Muir-Torre syndrome, and carcinoma of the small bowel. Presence of tumor infiltrating lymphocytes, Crohn’s-like lymphocytic reaction, mucinous/signet-ring differentiation, or medullary growth pattern.
HNPCC, hereditary non-polyposis colorectal cancer; NCCN, National Comprehensive Cancer Network; BSG, British Society of Gastroenterology; ACPGBI, Association of Coloproctology of Great Britain and Ireland; UKCGG, United Kingdom Cancer Genetics Group; JSCCR, Japanese Society for the Cancer of the Colon and Rectum; ACG, American College of Gastroenterology; BSO, bilateral salpingo-oophorectomy; LS, Lynch syndrome; EGD, esophagogastroduodenoscopy; MRI, magnetic resonance imaging; MRCP, magnetic resonance cholangiopancreatography; EUS, endoscopic ultrasound; PSA, prostatespecific antigen.
NCCN, National Comprehensive Cancer Network; ASGE, American Society for Gastrointestinal Endoscopy; BSG, British Society of Gastroenterology; ACPGBI, Association of Coloproctology of Great Britain and Ireland; UKCGG, United Kingdom Cancer Genetics Group; JSCCR, Japanese Society for the Cancer of the Colon and Rectum; ACG, American College of Gastroenterology; AFAP, atypical familial adenomatous polyposis; IRA, ileorectal anastomosis; IPAA, ileal pouch-anal anastomosis.