Gastrointestinal Polyposes: Clinical, Pathological and Molecular Features

doi:10.1016/j.gtc.2007.08.009

Gastroenterology Clinics of North America

Volume 36, Issue 4, December 2007, Pages 927-946

https://doi.org/10.1016/j.gtc.2007.08.009 Get rights and content

This article focuses mainly on noninflammatory epithelial polyposes, particularly the diagnostically important morphological and molecular features of the more recently recognized and/or more poorly understood conditions. One of the most important, but often neglected, of these is hyperplastic polyposis.

Section snippets

Clinical Manifestations

FAP accounts for less than 1% of colorectal cancers. This low figure is in part because of the rarity of FAP (it occurs in approximately 1 in 8000 subjects) and in part because of cancer prevention in known affected cases. An association with extracolorectal features (sebaceous cysts, bone tumors, and fibromatosis) first was noted by Gardner [3]. The list of extracolorectal features subsequently increased to include peri-ampullary adenoma and carcinoma, medulloblastoma, papillary carcinoma of

Attenuated Familial Adenomatous Polyposis, Lynch Syndrome, and Flat Adenomas

A large multiple adenoma family was characterized by the finding of less than 100 adenomas per subject [11]. The adenomas mainly were located proximally and tended to be flat. Colorectal cancers were relatively late in onset. There was a lack of extracolorectal features. This family originally was included with a set of Lynch syndrome/HNPCC kindreds (despite the adenoma multiplicity) and probably led to the concept of flat adenomas being characteristic of Lynch syndrome/HNPCC [12]. Because

MUTYH (MYH)-Associated Polyposis

This type of polyposis was initially documented in a Welsh kindred in which three siblings had multiple colorectal adenomas and carcinomas, but lacked a germline APC mutation [20]. Somatic mutations in the colorectal neoplasms showed a higher than expected rate of G:C to T:A transversions, and this in turn indicated a failure to repair a promutagenic product of oxidative DNA damage: 8-oxo-7,8-dihydro2′deoxyguanosine. The siblings were found to have biallelic germline mutations in one of three

Multiple Adenomas

The finding of multiple colorectal adenomas (5 to 100) may be explained by either AFAP or MAP, but most affected subjects will have neither APC nor MUTYH germline mutations. Multiple colorectal adenomas have been described in patients with acromegaly [27], hereditary mixed polyposis syndrome, and Bloom's syndrome [28]. Three independent studies have identified an adenoma susceptibility locus on chromosome 9q22.32 [29], [30], [31]. At endoscopy, or when examining a surgical specimen with

Peutz-Jeghers Syndrome

This is an autosomal-dominant condition characterized by the development of hamartomatous polyps throughout the GI tract and muco–cutaneous pigmentation. The distinction from other polyposes is not usually problematic, but the clinical diagnosis may be less straightforward in formes frustes. Polyps are largest and most numerous in the small bowel, and the condition typically presents with obstruction or intussusception in the second or third decade of life. The polyps are typically multilobated

Cowden and Bannayan-Riley-Ruvalcaba Syndromes

Cowden syndrome is a rare autosomal-dominant condition named after the family in which it first was described. It is characterized by the presence of GI, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune thyroiditis, microcephaly, and mental impairment. The colorectal polyps have been described as hamartomatous, inflammatory, and occasionally adenomatous [34]. There is little, or no, risk of colorectal malignancy, however. There may be confusion with juvenile polyposis [35]

Juvenile Polyposis

Juvenile polyps are classified as hamartomas, in which there is overgrowth of an edematous lamina propria containing glands showing cystic dilatation (mucous retention cysts) and occasionally a serrated architecture. The polyps are typically spherical with an eroded surface epithelium. Single, or small numbers of juvenile polyps are a relatively common occurrence within the colorectum of young children. A rare form of juvenile polyposis occurs in infancy and is associated with diarrhea,

Hereditary Mixed Polyposis Syndrome

The term mixed relates to the variety of polyps and the presence of polyps with features reminiscent of more than one type of classic polyp. Polyps frequently have an edematous and expanded lamina propria, similar to juvenile polyps. The polyps, however, may be multilobated or villiform, resembling atypical juvenile polyps of juvenile polyposis. Glands may show a strikingly serrated architecture. The serrated epithelium may be nondysplastic, resembling that of a hyperplastic polyp, or

Hyperplastic Polyposis

Although hyperplastic polyps of the colorectum have been regarded for decades as clinically unimportant lesions, there are numerous reports linking hyperplastic polyposis with colorectal cancer. Hyperplastic polyposis is a rare disorder, but probably underdiagnosed. To understand the condition fully, one must accept that it is not a single disease entity, but instead it shows considerable clinical, pathological, and molecular heterogeneity. The following sections review evidence that

Cap Polyposis, Eroded Polypoid Hyperplasia, Inflammatory Myoglandular Polyps, and Polypoid Prolapsing Folds

A form of colorectal polyposis, with various names indicative of a background of inflammation and/or mucosal prolapse, shows a predilection for the sigmoid region [106], [107], [108]. This condition frequently is associated with diverticular disease that may be accompanied by diverticular (segmental) colitis. The polyps comprise elongated, tortuous, dilated, and sometimes serrated crypts. The surface epithelium often is eroded and capped by granulation tissue. When mucosal prolapse features as

Summary

The diagnosis of some forms of polyposis, most notably classical FAP and Peutz-Jeghers syndrome, is relatively straightforward. In contrast, attenuated FAP may be confused with MUTYH polyposis and Lynch syndrome. Cowden syndrome and juvenile polyposis frequently are confused with each other, and HMPS may resemble both juvenile polyposis and hyperplastic polyposis. In view of overlapping phenotypes, the ultimate diagnostic arbiter is demonstration of a causative germline mutation. A germline

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Colorectal cancer (CRC), one of the most common cancers, is a major public health issue globally, especially in Westernized countries. Up to 35% of CRCs are thought to be due to heritable factors, but currently only 5% to 10% of CRCs are attributable to high-risk mutations in known CRC susceptibility genes, predominantly the mismatch repair genes (Lynch syndrome) and adenomatous polyposis coli gene (APC; familial adenomatous polyposis). In this era of precision medicine, high-risk mutation carriers, when identified, can be offered various risk management options that prevent cancers and improve survival, including risk-reducing medication, screening for early detection, and surgery. The practice of clinical genetics is currently transitioning from phenotype-directed single gene testing to multigene panels, now offered by numerous providers. For CRC, the genes included across these panels vary, ranging from well established, clinically actionable susceptibility genes with quantified magnitude of risk, to genes that lack extensive validation or have less evidence of association with CRC and, therefore, have minimal clinical utility. The current lack of consensus regarding inclusion of genes in CRC panels presents challenges in patient counseling and management, particularly when a variant in a less validated gene is identified. Furthermore, there remain considerable challenges regarding variant interpretation even for the well established CRC susceptibility genes. Ironically though, only through more widespread testing and the accumulation of large international data sets will sufficient information be generated to (i) enable well powered studies to determine if a gene is associated with CRC susceptibility, (ii) to develop better models for variant interpretation and (iii) to facilitate clinical translation.
Epidemiology and risk factors of colorectal polyps
2017, Best Practice and Research: Clinical Gastroenterology
Citation Excerpt :
Certain high-risk groups such as strong family history of CRC and rare genetic syndromes exist, but 85% of CRC occur in individuals without known risk factors [2]. There are different biological pathways leading from normal mucosa to CRC, but they all encompass precursor lesions termed polyps [3]. Polyps are caused by proliferation of the colonic mucosa, creating pedunculated or sessile outgrowths.
The lifetime risk of colorectal cancer (CRC) in the Western world is around 5%. CRC commonly develops from precursor lesions termed polyps, classified as adenomatous or serrated polyps according to growth pattern. Despite the well-known connection between polyps and cancer, most polyps will never develop into CRC. For those that do, the time until CRC development is generally thought of as >10 years. This gives opportunity for interventional strategies to prevent transformation into cancer. This article aims to provide an overview of the epidemiology of and risk factors for colorectal polyps in the average risk population, and will encompass the effect of age, gender, ethnicity, smoking, obesity, alcohol, physical activity, NSAIDs and dietary factors on colorectal polyps.
Hereditary Colorectal Cancer: Genetics and Screening
2015, Surgical Clinics of North America
Citation Excerpt :
In 30% of these patients there is a family history of CRC, suggesting a heritable component, but only 5% of CRCs arise in the setting of a well-established mendelian inherited disorder such as Lynch syndrome (LS), familial adenomatous polyposis (FAP), mutY Homolog (MUTYH)-associated polyposis (MAP), juvenile polyposis, hereditary mixed polyposis, and Peutz-Jeghers syndrome.2–4 In addition, serrated polyposis is a clinically defined syndrome characterized by multiple serrated polyps in the colorectum and an increased CRC risk, but the genetics are not yet known5 (Table 1). Most familial CRCs (20%–30%) arise as so-called nonsyndromic familial CRC and likely have a multigenetic cause.2,5
A morphologic reappraisal of endoscopically but not histologically apparent polyps and the emergence of the overlooked goblet cell - Rich hyperplastic polyp
2015, Human Pathology
Citation Excerpt :
Dr. Jeremy Jass proposed two principle types of SPS. Type 1 consists of large proximally located serrated polyps harboring BRAF mutations and DNA hypermethylation, while type 2 consists of numerous small pan-colorectal hyperplastic polyps with more frequent KRAS mutations [20]. The latter shows a molecular profile more in keeping with GCRHPs and the two molecular pathways suggest that the genotypic heterogeneity of SPS may result in a relatively broad landscape of serrated polyps, making it difficult to completely sever a potential link between KRAS-mutated GCRHPs and SPS.
Goblet cell--rich hyperplastic polyps (GCRHP) are morphologically subtle compared to microvesicular hyperplastic polyps (MVHP) and are believed to be the most commonly unrecognized serrated polyp, though this has not been systematically studied. We hypothesize that a gastrointestinal pathologist’s review of endoscopically but not histologically apparent polyps will identify previously missed GCRHPs, a finding that may be clinically significant if the addition of this subtype of serrated polyp contributes to sufficient numeric criteria for a clinical diagnosis of serrated polyposis syndrome (SPS). Two blinded reviews were performed on 160 endoscopically but not histologically apparent polyps by a gastrointestinal pathologist, separated by a 6 month “washout period.” A final review diagnosis of GCRHP was applied to all polyps with complete agreement on both reviews. Patient records were then searched to determine if the addition of a GCRHP resulted in sufficient numeric criteria for a clinical diagnosis of SPS. Fourteen (9%) polyps were reclassified as GCRHPs. The majority (n = 12, 86%) were originally called “colonic mucosa with surface hyperplastic change (CMWSHC).” Two polyps (1%) were re-classified as MVHPs. No other serrated or adenomatous polyps were identified. For each patient, the addition of a hyperplastic polyp did not result in a clinical diagnosis of SPS, though one patient fell short of this diagnosis by only one polyp. GCRHPs are the most commonly underdiagnosed serrated polyp and are often called CMWSHC. The addition of previously missed GCRHPs is unlikely to contribute to a diagnosis of SPS in an individual patient.
Phenotype characteristics of patients with colonic serrated polyposis syndrome: A study of 23 cases
2014, Cirugia Espanola
El síndrome de poliposis serrada (SPS) es una entidad rara caracterizada por la presencia de múltiples pólipos de histología hiperplásica en el colon y un riesgo aumentado de presentar y desarrollar cáncer colorrectal (CCR).
Evaluar las características clínicas y fenotípicas de los sujetos que reúnen alguno de los 3 criterios de la OMS para el diagnóstico de SPS, diagnosticados y seguidos en nuestro hospital.
Se revisan los pacientes con SPS durante 2005-2012, periodo en el que se realizan 24.208 colonoscopias. Se analizan edad, sexo, historia familiar de CCR (APC/MYH), fenotipo proximal/mixto/distal, indicación de colonoscopia, número, tamaño, localización de los pólipos hiperplásicos, presencia de pólipos mixtos/adenomatosos, CCRI, seguimiento y tratamiento endoscópico/quirúrgico.
Se han recogido 23 casos (19 hombres). El promedio de edad fue 51 años. El 34% presentaba antecedentes familiares de CCR o pólipos. El fenotipo distal (48%) fue más frecuente. El 73% presentaba pólipos adenomatosos sincrónicamente, y el 26% un CCR. El 57% eran pacientes asintomáticos. Se realizó cirugía en 9 casos (6 por cáncer y 3 por poliposis, y 14 con polipectomías sucesivas y observación). Un total de 11 pacientes (47%) presentaron lesiones recurrentes/persistentes tras el tratamiento quirúrgico/endoscópico inicial.
El SPS es un síndrome heterogéneo, variable en tipo, tamaño, distribución y número de pólipos, siendo más frecuente en varones fumadores con fenotipo distal. La mayoría de los pacientes presentan además pólipos adenomatosos de manera sincrónica. Estos pacientes requieren una evaluación organizada multidisciplinar.
Serrated polyposis síndrome (SPS) is a rare entity characterized by the presence of multiple hyperplastic polyps in the colon and an increased risk of presentation and development of colorectal cancer (CRC).
To evaluate the clinical and phenotypical characteristics of patients that present one of the 3 WHO criteria for the diagnosis of SPS diagnosed and treated a tour hospital.
Patients with the diagnosis of SPS during 2005-2012 were revised; 24.208 colonoscopies were performed during this period. Age, sex, family history of CRC (APC/MYH), proximal/mixed/distal phenotype, indication for colonoscopy, number, size, location of the hyperplastic polyps, presence of mixed/adenomatous polyps, CRCI, follow-up and endoscopio/surgical treatment.
A total of 23 cases were included (19 male). The median age was 51. A total of 34% had a prior family history of CRC or polpyps. Distal phenotype was more frequent (48%). Another 73% presented synchronous adenomatous polyps, and 26% a CRC. A total of 57% were asymptomatic. Surgery was performed in 9 cases (6 for cancer and 3 for polyposis), and 14 were treated by polypectomy and observation. Eleven patients (47%) presented recurrent/persistent lesions after initial surgical/endoscopic treatment.
SPS is an heterogeneous síndrome that is variable in the type, size, distribution and number of polyps, and is more common in male smokers with a distal phenotype. The majority of patients also present synchronous adenomatous polyps. These patients require an organized multidisciplinary evaluation.
Clinical subtypes and molecular characteristics of serrated polyposis syndrome
2013, Clinical Gastroenterology and Hepatology
We investigated clinical and molecular differences between the different phenotypes of serrated polyposis syndrome (SPS) and the frequency of mutations in BRAF or KRAS in polyps from patients with SPS.
We collected data on clinical and demographic characteristics of 50 patients who fulfilled the criteria for SPS. Polymerase chain reaction and sequence analysis were used to identify BRAF and KRAS mutations in 432 polyps collected from 37 patients; we analyzed CpG island methylator phenotypes in 272 of these polyps.
Fifteen patients (30%) had type 1 SPS and 35 had type 2 SPS. There were no significant differences in age at diagnosis, sex, smoking frequency, body mass index, or colorectal cancer predisposition between groups of patients, or in the pathologic or molecular characteristics of their polyps. A familial history of colorectal cancer or colonic polyps was reported more frequently by patients with type 2 SPS. BRAF mutations were found in 63% of polyps and KRAS mutations were found in 9.9%; 43.4% of polyps had the CpG island methylator phenotype–high phenotype. A per-patient analysis revealed that all patients had a BRAF or KRAS mutation in more than 25% of their polyps; 84.8% of patients had a mutation in BRAF or KRAS in more than 50% of their polyps.
Except for a greater likelihood of familial history of colorectal cancer or colonic polyps in patients with type 2 SPS, we found no significant demographic, pathologic, or molecular differences between types 1 and 2 SPS. All patients had a BRAF or KRAS mutation in at least 25% of their polyps.

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Gastrointestinal Polyposes: Clinical, Pathological and Molecular Features

Section snippets

Clinical Manifestations

Attenuated Familial Adenomatous Polyposis, Lynch Syndrome, and Flat Adenomas

MUTYH (MYH)-Associated Polyposis

Multiple Adenomas

Peutz-Jeghers Syndrome

Cowden and Bannayan-Riley-Ruvalcaba Syndromes

Juvenile Polyposis

Hereditary Mixed Polyposis Syndrome

Hyperplastic Polyposis

Cap Polyposis, Eroded Polypoid Hyperplasia, Inflammatory Myoglandular Polyps, and Polypoid Prolapsing Folds

Summary

Cell

Cell

Gastroenterology

Gastroenterology

Clin Gastroenterol Hepatol

Cell

Lancet

Clin Gastroenterol Hepatol

Gastroenterology

Gastroenterology

Am J Surg

Am J Hum Genet

Am J Hum Genet

Gastroenterology

Am J Hum Genet

Gastroenterology

Pathology

N J Med

Am J Pathol

Pathology

Gastroenterology

J Am Coll Surg

Gastroenterology

Gastroenterology

Clin Gastroenterol Hepatol

The history of familial adenomatous polyposis

Fam Cancer

The international collaborative group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC)

Dis Colon Rectum

Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas, and epidermal cysts

Am J Hum Genet

The genetics of FAP and FAP-like syndromes

Fam Cancer

Familial polyposis coli

Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation

Gut

Brief clinical report: Gardner syndrome in a man with an interstitial deletion of 5q

Am J Med Genet

Localization of the gene for familial adenomatous polyposis on chromosome 5

Nature

Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps

N Engl J Med

Flat-elevated and depressed subtypes of flat early colorectal cancers should be distinguished by their pathological features

Int J Colorectal Dis

Evolution of hereditary nonpolyposis colorectal cancer

Gut

Attenuated adenomatous polyposis coli: the role of ascertainment bias through dye spray at colonoscopy

Dis Colon Rectum

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly, but depend on the site of the germline mutation

Gut

Inherited variants of MYH associated with somatic G:C - T:a mutations in colorectal tumors

Nat Genet

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

N Engl J Med

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas

Int J Cancer

Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway

Cancer Res

Increased prevalence of colonic adenomas in patients with acromegaly

Eur J Endocrinol

A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2

Proc Natl Acad Sci U S A

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma in colorectal cancer on chromosome 9q22.32-31.1

J Med Genet

Evidence of linkage to chromosome 9q22.32 in colorectal cancer kindreds in UK

Cancer Res

Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall