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Review
Tumor Screening and surveillance for hereditary colorectal cancer -
Hee Man Kim1,2
, Tae Il Kim1,2 -
Intestinal Research 2024;22(2):119-130.
DOI: https://doi.org/10.5217/ir.2023.00112
Published online: February 6, 2024
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2Division of Gastroenterology, Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea JFIF d d Ducky d qhttp://ns.adobe.com/xap/1.0/ |er˭|I|-fGK.rΛp8XV1%K6mvG+tc+qE &ǸC_Nm:l=_/m5^[dߌڇ.c<%:)tQ$Ow~-aY;UJ >=F)2[nk؆?훐 M=l6[4(O.]2#-H^n#->&mp5~Fӛ+|| S,xag% qkEUzUgæBhߕP(7]kFnq?֖Cpru Z6*rEڊtS|*tI*E}7R<,nUU֫^I7Q*mSly%rdȓd8hE<9oHhMfNSRj[i7D[Rj݊+kდq{"$$H?p \̅S?㭻;t~ R߁ )^/>Qj`yt[w ԛ;² ~+ ߔ_ YW~|o] ?x^ᯛ `ʼn;g)T@vWn]>&4l p+$D̢1l|ȨF%-} .9[}w~
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- Correspondence to Tae Il Kim, Department of Internal Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea. Tel: +82-2-2228-1965, Fax: +82-2-393-6884, E-mail: taeilkim@yuhs.ac
• Received: September 1, 2023 • Revised: November 8, 2023 • Accepted: November 27, 2023
© 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.
Abstract
- Hereditary colorectal cancer is a type of cancer that is caused by a genetic mutation. Individuals with a family history of colorectal cancer, or who have a known hereditary syndrome, are at an increased risk of developing the disease. Screening and surveillance are important tools for managing the risk of hereditary colorectal cancer. Screening involves a combination of tests that can detect precancerous or cancerous changes in the colon and rectum. Surveillance involves regular follow-up examinations to monitor disease progression and to identify new developments. The frequency and type of screening and surveillance tests may vary depending on an individual’s risk factors, genetic profile, and medical history. However, early detection and treatment of hereditary colorectal cancer can significantly improve patient outcomes and reduce mortality rates. By implementing comprehensive screening and surveillance strategies, healthcare providers can help individuals at risk of hereditary colorectal cancer to receive timely interventions and make informed decisions about their health. Specific examples of screening and surveillance tests for hereditary colorectal cancer include colonoscopy, genetic testing, and imaging tests. In this review article, we will discuss detailed screening and surveillance of hereditary colorectal cancer.
INTRODUCTION
SCREENING AND SURVEILLANCE STRATEGIES
LYNCH SYNDROME
1) Clinical Criteria
2) Family History
3) Genetic Testing
1) Colorectal Cancer
2) Gastric Cancer
3) Endometrial Cancer
4) Ovarian Cancer
5) Other Cancers
(1) Pancreatic cancer
(2) Prostate cancer
(3) Urinary tract cancer
FAMILIAL ADENOMATOSIS POLYPOSIS
MAP SYNDROMES
JUVENILE POLYPOSIS SYNDROME
PEUTZ-JEGHERS SYNDROME
CONCLUSIONS
-
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.
NOTES
Fig. 4.Desmoid tumor in mesentery. (A) Sagittal section of computed tomography (CT) scan. (B) Cross section of CT scan.
Table 1.
Table 2.
Table 3.Clinical Criteria for Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
| 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.
Table 4.Summary Table of Guidelines for Screening and Surveillance of HNPCC-Related Cancer
| 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.
Table 5.Screening and Surveillance Recommendations in Patients for Familial Adenomatous Polyposis
| 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.
Table 6.
| 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 |
Table 7.
| 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 |
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Citations
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XML DownloadScreening and surveillance for hereditary colorectal cancer
Fig. 1. Familial adenomatous polyposis. Multiple adenomatous polyps in the colon during colonoscopy.
Fig. 2. Fundic gland polyps in the stomach (A) and duodenal polyps (B).
Fig. 3. Adenoma of ampulla of Vater (A) and endoscopic ampullectomy (B).
Fig. 4. Desmoid tumor in mesentery. (A) Sagittal section of computed tomography (CT) scan. (B) Cross section of CT scan.
Fig. 1.
Fig. 2.
Fig. 3.
Fig. 4.
Screening and surveillance for hereditary colorectal cancer
| 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 |
Table 1. Types and Gene Mutations of Hereditary Colorectal Cancer [3,5,6]
Table 2. Types and Examples of Genetic Tests [5,6]
Table 3. Clinical Criteria for Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
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.
Table 4. Summary Table of Guidelines for Screening and Surveillance of HNPCC-Related Cancer
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.
Table 5. Screening and Surveillance Recommendations in Patients for Familial Adenomatous Polyposis
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.
Table 6. Modified Spigelman Score [26,36]
Table 7. Spigelman Stage and Recommended Duodenal Surveillance Frequency [26,36]
