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Juvenile Polyposis

, MD and , MD.

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Juvenile polyposis (JP) is an autosomal dominantly inherited syndrome that belongs to the hamartomatous polyposis group of disorders. The incidence of JP is estimated to be 1 in 100,000 persons per year. Males and females have the same incidence of disease, with Northern Europeans having a higher prevalence for JP compared to other groups (1). JP patients have a propensity to develop hamartomatous polyps throughout the colon and a subset of them also in the upper gastrointestinal (GI) tract, most commonly in the stomach (Figures 1, 2, 3). Patients with JP have a high risk for developing GI cancers, and therefore close screening and aggressive management should be performed.

Figure 1


Figure 1. A juvenile polyp, with a long stalk, removed at colonoscopy.

Figure 2


Figure 2. Transverse colon from a patient with juvenile polyposis showing hundreds of juvenile polyps. See Figures 3 and 11 for gastric juvenile polyps.

Figure 3


Figure 3. Surgical specimen of the stomach, which is carpeted with juvenile polyps, from a patient with juvenile polyposis. See Figure 11 for endoscopic pictures of gastric juvenile polyps. See Figure 2 for colonic juvenile polyps.

The term juvenile polyposis refers to pathological findings in the colon polyp itself and not the age of onset in the patient; patients with juvenile polyposis can present with signs and symptoms as children or adults.


In 1914, Hertz described four children with rectal polyps, which in retrospect probably had familial JP (2). However, without retrospective confirmation of juvenile polyposis histology, Hertz’s report must be classified as provisionally the first instance of JP in the medical literature. Hertz’s report can be read by linking to the Appendix (The first reported case of juvenile polyposis: Four cases of rectal polyposis occurring in one family).

The first confirmed JP patient was described by Diamond in 1939: a 30-month-old child with a hamartomatous polyp that prolapsed on defecation. The child presented with constipation and hematochezia, and was found to have a pedunculated and a sessile polyp in the rectum (3). In 1948, Ravitch described the first case of juvenile polyps in the stomach, colon, and rectum. This was a 10-month-old child with bloody diarrhea, malnutrition despite adequate nutritional support, severe anemia requiring transfusions, and recurrent rectal prolapse leading to intussusception. On autopsy, he was found to have multiple polyps of the upper and lower gastrointestinal tract (4).

In 1946, Helwig described the histological characteristics of what we now call a hamartomatous polyp in more detail. He described them as having glandular structures filled with mucus, embedded in a stroma of cellular connective tissue, with infiltration of inflammatory cells. The polyps had no evidence of adenomatous epithelium or dysplastic changes (5). However, it was Horrilleno et al. in 1957 who coined the term “hamartomatous polyps” (6). In 1962 Morson was the first to histologically define the difference between juvenile, Peutz-Jeghers, adenomatous, and solitary/inflammatory polyps (7).

Smilow et al. described a three-generation kindred with JP in 1966, and proposed a dominant inheritance pattern. One of the three affected individuals had adenocarcinoma of the colon, but they believed that more evidence was needed to propose an increased risk of malignancy (8). It was in 1975 that Stemper et al. described a kindred from Iowa with several individuals having single or multiple juvenile polyps in the stomach, small bowel, colon, and/or rectum. Furthermore, 11 members had a history of a GI cancer (5 colon, 2 stomach, 2 duodenal, 1 pancreatic, and 1 unknown), but they were hesitant to propose an increased risk of malignancy in JP (9).

The relationship between cancer and JP was established by Liu et al. in 1978 when they published a case report of a 16-year-old boy with JP, who was found to have histologically a typical juvenile polyp with a single focus of signet ring cell carcinoma (10). Goodman et al. also published a case report of a 23-year-old diagnosed with de novo JP and rectal cancer. Histologically, they found a spectrum from hyperplastic/juvenile polyps, to juvenile polyps with focal adenomatous changes, adenomas, and even adenocarcinoma (33). Multiple other groups have provided further evidence suggesting that juvenile polyps do have malignant potential (34-36).


Sachatello et al. proposed the JP classification that is still used today (11). They divided patients into three subtypes (1): Juvenile Polyposis Coli, where the polyps are localized to the colon (2); JP of infancy, which has a poor prognosis, and is mostly seen in infants and children; they present with hypoproteinemia, malnutrition and bloody diarrhea, and usually have larger, recurrent polyps that prolapse and lead to recurrent intussusception (3); Generalized JP, where the juvenile polyps are distributed more evenly throughout the GI tract, with the upper GI tract (stomach) and lower GI tract being affected.


Morson described the juvenile polyp as a hamartoma and a malformation of the layers above the muscularis mucosa (7). The stroma of the polyp is lined by tubules with columnar epithelium and goblet cells. Atrophy of the epithelium can be seen, leading to cystic dilation and retention of mucus produced by the goblet cells. There are no signs of hyperchromatism or increased mitotic activity within the polyps. However, the epithelial cells lining the polyp, which is a continuous single layer of columnar and goblet cells, can become ulcerated, leading to bleeding. This characteristic may lead to the chronic infiltration of inflammatory cells which can be seen throughout the lamina propria (Figure 4). The polyps can be sessile or pedunculated, and measure from a few mm to up to 3 cm in size. The muscularis mucosa is normal and not involved, and the polyps have more connective tissue compared to adenomas or other types of polyps. Jass et al. found that 80% of polyps are typical; however, 20% of polyps are multilobated or papillary. Most commonly, the lamina propria is markedly expanded, but it can also be thinned by chronic inflammation (1).

Figure 4


Figure 4. Micrograph showing the typical histological features of a juvenile polyp with cystic dilation and mucus retention.

Change from juvenile polyp to adenocarcinoma

Grigioni et al. postulated that juvenile polyps undergo a clear pathogenic sequence of events: mucosa becoming hyperplastic, then inflamed, which causes the lamina propria to expand and enlarge. Next, the crypts and glands become dilated and full of mucus produced by the goblet cells, leading to the classic hamartomatous juvenile polyp. The polyp then develops adenomatous features, leading to the transformation to a tubular and/or villous adenoma, which ultimately leads to the epithelium lining the polyps to change and later develop into an adenocarcinoma (12).

Subramony et al. showed that in random biopsies of normal colonic mucosa from patients with JP, there is a chronic infiltration of the upper half of the mucosa with a dense population of mixed inflammatory cells. This leads to nodular gastric, colonic, and rectal mucosa with cystic architectural changes. In addition, they found that polyps less than 1 cm showed the typical histology of juvenile polyps; however, in polyps between 1-2.9 cm, there was a higher incidence of pedunculated polyps with mildly dilated glands and epithelium with mild to moderate dysplasia; and if greater than 3 cm, the majority of polyps were pedunculated and lined mostly by dysplastic epithelium, which closely resembled adenomas (13). Sassatelli proposed that there is a specific sequence of progression of JP polyps from hyperplasia to cancer. They proposed a sequence of events from focal mucosal hyperplasia to a hyperplastic polyp, then the polyps enlarge and develop changes within the epithelium that give rise to adenomatous features, with conversion to an adenoma, and ultimately adenocarcinoma (14).


In 1974, Sachatello et al. proposed the first criteria for the diagnosis of JP. One of the following criteria needs to be identified to make the diagnosis:

(1) ten or more juvenile polyps in the colorectum or;

(2) one juvenile polyp in the upper and one in the lower GI tract or;

(3) any number of juvenile polyps and a family history of juvenile polyposis (15).

Jass et al. proposed a modification to the above criteria, which was to decrease the number of polyps needed to be found in the colorectum from 10 to 5 in order to make the diagnosis (16), and Giardiello later proposed a further decrease in the number of polyps from 5 to 3 (17). Most experts today go by the criteria of 5 or more polyps over time to make the diagnosis.

Clinical Genetics

About 75% of JP patients have a family history of JP. The remainder are thought to have de novo mutations.

In 1998, Howe et al. studied members of the Iowa kindred, first described by Stemper et al., and found significant evidence of linkage to markers on chromosome 18q21 (18). Subsequently his group found a 4 base pair (bp) deletion in exon 9 of SMAD4 in all affected members of the kindred (19) (Figures 5, 6, 7). Other mutations in SMAD4 were subsequently found and confirmed in other JP patients (20-22).

Figure 5


Figure 5. The SMAD4 gene on chromosome 18q21.2 spans 55 kb and produces an 8.8-kb transcript encoding a protein of 552 amino acids. Arrow indicates the original 4-basepair deletion mutation found in the large Iowa kindred (see text). See Figure 7 for (more...)

Figure 6


Figure 6. Multispecies sequence alignment of amino acid sequence of the SMAD4 protein. Sequence identity 67%, similarity 77%.

Figure 7


Figure 7. The Iowa kindred, which is the largest juvenile polyposis kindred described in the literature. * = DNA sample obtained; black = affected; grey = at risk; affection status unknown. See Figure 5 for the location of the families’ SMAD4 (more...)

In 2001, Howe et al. found linkage in 4 unrelated JP families (with no mutations in SMAD4 or PTEN, the gene for Cowden syndrome) to markers on 10q22-23 near the PTEN gene. Subsequently, germline mutations were found in all affected members in the bone morphogenetic protein receptor type IA gene (BMPR1A) (Figures 8 and 9) (23). Other groups later confirmed BMPR1A mutations in additional JP families (24, 25). BMPR1A is a type 1 cell surface receptor of the TGF-superfamily. When BMPs bind and activate the type II receptor, it in turn binds and activates the type I receptor. The type I receptors then phosphorylate and activate intracellular co-SMADs1, 5 and 8, which form oligomers. This complex then binds to SMAD4, and migrates to the nucleus, where together with specific DNA binding proteins regulate the transcription of specific genes (Figure 10).

Figure 8


Figure 8. BMPR1A, on chromosome 10q23.2, covers 169 kb of genomic sequence and makes a transcript of 3.6 kb encoding a 532 amino acid protein.

Figure 9


Figure 9. Multispecies sequence alignment of amino acid sequence of BMPR1A. Poor conservation score in parts of the alignment is due to incomplete or incorrectly annotated stickleback or xenopus sequence. Otherwise, sequence identity is 71%, and similarity (more...)

Figure 10


Figure 10. Representation of the TGF-β pathway, showing the key roles of BMPR1A and SMAD4.

Multiplex ligation probe-dependent amplification (MLPA) is another method that identifies large deletions and duplications. This is done by analyzing individual probes within the exons of BMPR1A and SMAD4 and comparing the amplification profile to normal controls. MLPA studies have shown that 4.3% (3.3-12%) of JP patients will have large deletions in SMAD4 and 3.8% (3.3-16.7%) in BMPR1A. This means that approximately 43% of JP patients have an identifiable mutation in BMPR1A or SMAD4 by either sequencing or MLPA (26-28).

Genetic Testing

Genetic testing can identify a mutation in 41% of JP patients by sequencing, and another 4-5% by MLPA. The website lists laboratories offering testing. It is important to test for known familial mutations in at-risk relatives of patients identified as having a familial SMAD4 or BMPR1A mutation. This is because a positive test result will lead to a recommendation of increased screening while a negative test result will eliminate unnecessary testing (29).

A comment should be made about the approximately half (57%) of JP patients that will not have an identifiable mutation via full gene sequencing or MLPA. This suggests that there is most likely another gene, that when mutated, predisposes one to JP. There are a few cases that suggest that another gene, referred to as ENG, may be responsible for some JP cases in the absence of an identifiable SMAD4 or BMPR1A gene mutation. Due to little knowledge about ENG, at this time it cannot yet be concluded that it has a direct link to JP. Another hypothesis is that mutations in regulatory regions that influence the translation or transcription of BMPR1A or SMAD4 may lead to decreased amounts of these proteins and cause JP. The best explanation is that another, not yet described germline mutation is most likely the reason for these patients’ JP. Therefore it is important that individuals without identifiable mutations continue to participate in research so that the molecular basis of this disease can be further understood. These patients should be followed closely; screening recommendations should be the same for these patients as JP patients who have been identified as having a SMAD4 or BMPR1 mutation.

Natural History


It is important to note that the incidence of having sporadic juvenile polyps (generally less than 5) is as high as 1% of all children, with the majority of these children not having JP and not developing additional polyps in their lifetime.

Veale et al. found an average age of onset to be 6 years of age, with familial JP slightly older at 9.5 years and de novo cases of JP at 4.5 years. The most common symptom at presentation is generally rectal bleeding, followed by prolapse of the polyps per rectum, mucus per rectum, diarrhea, and abdominal cramping (30). Other symptoms of JP include hematochezia caused by autoinfarction of the polyps. When patients develop many polyps, there is a larger amount of mucus secretion, leading to greater protein loss, with resulting hypoalbuminemia, hypoproteinemia, anergy, and failure to thrive. In addition, some patients can develop a secretory diarrhea with hypokalemia (31).

In 1995, Desai et al. reviewed the literature on JP, and found that JP patients have a great variation in the number of polyps (from 5-200) in their lifetime. Ninety-eight percent of patients have polyps evenly distributed through the ascending, transverse, and descending colon (Figure 2). They found that 14% of JP patients have gastric polyps (Figure 3), 2.3% had polyps in the duodenum, and 6.5% in the jejunum and ileum (32).

Colon Cancer

When JP was originally characterized, the conclusion was that the hamartomatous polyps did not have atypical features, and therefore did not have malignant potential (30). Even Stemper et al. missed the relationship of JP and the development of cancer when they reported the Iowa kindred in 1975, which consisted of 56 members, where 15 were diagnosed with JP, and 11 had GI malignancies (9).

Jass et al. analyzed 1,032 juvenile polyps from 80 JP patients and found that 840 were typical juvenile polyps, 169 were multilobulated or villous, 21 were adenomas, and 2 were classified as hyperplastic polyps. They concluded that typical juvenile polyps had a 9% chance of having dysplastic changes, while 47% of villous polyps had dysplasia. They also found that patients with JP developed colorectal cancer at a mean age of 34 years. The conclusion made was that patients with JP, unlike patients found to have sporadic juvenile polyps, have a high risk of developing colorectal cancer; this risk was estimated to be over 50% (16).

In 1991, another important study on juvenile polyps was published by Giardiello et al. (17). They divided the patients into familial JP, de novo (sporadic, new mutation) JP, and cases of sporadic juvenile polyps. If the patients had an adenoma, adenocarcinoma, or adenomatous epithelium within their juvenile polyp/s they were considered as having colorectal neoplasia. They found that the risk of colonic neoplasia was about the same for both familial JP cases and sporadic cases of juvenile polyposis, with the mean age of diagnosis of colonic neoplasia being 37 years of age.

Coburn et al. reviewed the literature and concluded that GI adenocarcinoma was found in 17% of JP patients, with a mean age of diagnosis of 35.5 years (37). They found that malignancies were more common with juvenile polyposis coli (individuals with JP whose polyp burden is confined to the colon) compared to the other two subtypes (juvenile polyposis of infancy and generalized polyposis involving the colon and stomach), especially if there was reported family history of JP.

In 1998, Howe et al. reviewed the largest JP kindred described in the literature (the Iowa kindred; Figure 7), which had 117 members; 29 of them which had been diagnosed with JP, including 11 patients with colon cancer, 4 with gastric cancer, 1 with duodenum/ampullary cancer, and 1 with pancreatic adenocarcinoma. In this family with generalized JP (polyposis throughout the entire GI tract) the overall risk for colorectal cancer was 38%, gastric cancer was 21%, and the overall risk for GI malignancies was 55% (38).

Gastric Cancer

Yoshida et al. in 1988 described a 31-year-old male, first diagnosed with generalized JP at the age of 17, who was found to have a well-differentiated gastric adenocarcinoma (39). There was a strong family history of gastrointestinal polyposis and malignancy, including 3 individuals with gastric cancer, 2 with rectal cancer, and 2 with hepatocellular carcinoma. They concluded that gastric polyps in patients with JP carry a high risk for malignant transformation and that the disease within the gastric mucosa is often a diffuse process. As previously stated, Howe et al. calculated the risk of developing gastric cancer to be approximately 21%; however, if the patient carries a SMAD4 mutation there is a higher risk of developing gastric polyposis as well as a higher risk of developing gastric adenocarcinoma (28-41%).

Pancreatic Cancer

Other than Howe, Walpole and Cullity were the only others to report another JP patient with pancreatic cancer. They described a 19-year-old male with de novo JP and adenocarcinoma of the pancreas. It was determined that a genetic factor, common to both the colonic and gastric mucosa, might be the culprit (40).

Associated Anomalies

Extracolonic anomalies in JP patients have been described by many groups, most of which were reported when JP was first described. Therefore, it is important to understand that some of these patients with these anomalies might not have had JP, but rather had Peutz-Jeghers syndrome, Gorlin syndrome, Bannayana-Riley-Ruvalcaba or Cowden syndrome. Desai et al. found that approximately 11-20% of JP patients have extracolonic anomalies, which included the following: macrocephaly, hypertelorism, amyotonia congenita, extra toes on the foot, Meckel’s diverticulum with umbilical fistula, mild communicating hydrocephalus, malrotation of the gut, undescended testes, mesenteric lymphangioma, malrotation of the cecum, and acute porphyria (12, 14, 43). Bussey et al. also found that 20% of JP patients had congenital cardiac anomalies (44), and Raskin et al. published a case report of a patient with JP associated with Von Recklinghausen’s disease (45).

Coburn et al. described congenital cardiac anomalies such as atrial septal defects, arteriovenous malformations (AVMs) of the lung, pulmonic stenosis, tetralogy of Fallot, coarctation of the aorta, patent ductus arteriosus and subvalvular aortic stenosis (37). In 1990, Jass concluded, after an exhaustive review, that the anomalies reportedly seen in JP patients were more common in de novo cases rather than in familial JP (1). Desai et al. found that 78% of males had anomalies compared to 22% of females (41).

A more consistent clearly described phenotype has been the association of JP with hereditary hemorrhagic telangiectasia (HHT) (Figure 11). In 1980, Cox et al. described a 28-year-old female and her 10-year-old daughter with generalized JP, clubbing of the fingers, and AVMs diagnosed by pulmonary angiography (42). Other groups also described other cases of patients with JP, cutaneous telangiectasias, and pulmonary AVMs. It was not until 1999 that Inoue et al. made the association between HHT and JP; they described a 14-year-old girl that presented with rectal bleeding, anemia, and epistaxis (43). She was diagnosed with generalized JP and HHT due to telangiectasias of the skin, an AVM of the right pulmonary artery, and intrahepatic AVMs. This association was further characterized in terms of its genetics by Gallione et al., who reported 14 patients, 6 families (with a total of 13 affected individuals) and 1 de novo case with JP and HHT in 2004 (44). All patients had mucocutaneous telangiectasias, 7 had pulmonary AVMs, 4 had intrahepatic AVMs, and 1 had a cerebellar cavernous hemangioma. The most common presentation was epistaxis (9 out of the 14 patients). Although only one patient had a diagnosed cerebellar cavernous hemangioma, 2 patients presented with intracranial bleeding. At the genetic level, they found that none of the patients had mutations in the ENG or ALK1 genes, which have been associated with HHT, but instead, all had germline SMAD4 mutations. Therefore, they screened the SMAD4 gene in 30 unrelated patients with HHT, without any identifiable mutations in the ENG or ALK1 genes, and found 3 patients with germline SMAD4 mutations. Only 3 out of the 30 patients were found on colonoscopy to have JP; these were also the ones who were found to have germline SMAD4 mutations. They proposed that individuals with HHT and SMAD4 mutation should be screened for colonic and gastric polyps to rule out JP (45). The combined JPS/HHT syndrome SMAD4 mutations are primarily within the MH2 domain (exons 8-11).

Figure 11


Figure 11. Images from a patient with juvenile polyposis (JP)-hereditary hemorrhagic teleangiectasia syndrome. The patient is a member of the Iowa kindred and presumably carries the known familial SMAD4 mutation. The unusual appearance of some of the (more...)


Colonoscopy and Esophagogastroduodenoscopy (EGD)

Colonoscopy and EGD have been the standard procedures for initial screening, treatment, and follow-up for patients with or at risk for JP. The use of capsule endoscopy has been advocated due to the ability to evaluate the entire upper and lower GI tracts with one procedure; however, this may not find all polyps and does not allow for removal of polyps. Before capsule endoscopy can be recommended further research is needed.

In patients at risk for JP a thorough history and physical exam should be done to look for signs or symptoms of JP, which include rectal bleeding, prolapse, anemia, constipation, obstruction, diarrhea, and abdominal discomfort. In familial JP, if a SMAD4 or BMPR1A mutation has been identified, at-risk individuals should undergo genetic testing within the first five years of life. If the at-risk individual is tested and determined not to be a carrier, no further screening is necessary unless signs and symptoms develop. However, these patients should still undergo regular colonoscopies every 10 years starting after age 50 as in the normal population.

If the familial mutation is found in that at-risk individual, then he/she is considered to be at high risk and should follow the same screening as any other patient with JP; this screening includes colonoscopy and upper endoscopy screening every 3 years until the age of 45 if no polyps found. If colonic juvenile polyps are found, they are usually amenable to endoscopic polypectomy, and they should be removed if possible. This procedure should be repeated every year until the patient is free of polyps, at which time they can resume regular 3-year screening (Figure 12). Gastric polyps are very difficult to remove endoscopically, as there is commonly carpeting of the stomach. Stomach surgery is often required, usually a total gastrectomy.

Figure 12


Figure 12. Recommendations for screening and management of patients at risk for juvenile polyposis. CBC = complete blood count.

If the mutation in the family is unknown, then screening should start at age 15, with EGD and colonoscopy, or earlier if signs of anemia or symptoms develop. If the first screening is negative, follow-up screening should be done every 3 years (38).

Surgical and Endoscopic Therapy

In 1974, Sachatello et al. proposed that individuals with JP should undergo polypectomy or fulguration of the polyps and resection of the affected areas of bowel if not in the rectum (15). In 1986, Grosfeld et al. proposed that subtotal colectomy with ileorectal anastomosis was the procedure of choice in selected patients with JP (31). The proposed indications for surgery were children with anemia from chronic bleeding, hypoproteinemia leading to failure to thrive, and non-reducible intussusceptions causing obstruction. In 1993, Jarvinen et al. were more aggressive and proposed prophylactic colectomy with ileorectal anastomosis for patients with JP due to the high risk of colorectal cancer. They advocated for surgery as early as the age of 20-25 years due to the increasing risk of cancer (46).

Howe et al. supported the idea of subtotal colectomy if the patient had diffuse polyposis, if there was evidence of recurrent anemia requiring transfusions, if there was protein-losing enteropathy, or if the patient suffered from non-reducible intussusception. They felt that by having a subtotal colectomy the majority of the colon at risk would now be removed and would also make follow-up screening much easier. They felt that the rectal remnant could be screened by rigid or flexible sigmoidoscopy every 1-3 years with polypectomies as needed. However, the minority of patients needed subtotal colectomy, and by taking a conservative approach with endoscopic polypectomy the potential for frequent, uncontrolled bowel movements that have negative social and psychosocial consequences in children might be avoided (38). Total proctocolectomy with ileoanal anastomosis and J-pouch is an option in patients with evidence of polyps in the rectal remnant after subtotal colectomy (47).

For patients with generalized JP, it is recommended that they undergo periodic surveillance of the upper GI tract with EGD starting at the age of 15 if asymptomatic, or earlier when symptoms develop. If the initial EGD is negative, a repeat EGD should be done every 2-3 years (38, 46-48). Polypectomy is more difficult in the gastric mucosa since the disease in this particular tissue has a more diffuse nature (38). Furthermore, patients with mutations in SMAD4 are at higher risk for developing juvenile polyps in the stomach and also carry a higher risk of developing gastric cancer. Therefore, patients with gastric polyps and mutations in SMAD4 will require more close attention and screening (25, 49). If complications such as bleeding and gastric outlet obstruction develop, or histological findings of dysplasia or adenocarcinoma are found within the polyp or gastric mucosa, then a subtotal or total gastrectomy is indicated.

Movie Clip Captions

Movie Clip 1.

Endoscopic views of the stomach of a patient with juvenile polyposis and hereditary hemorrhagic telangiectasia overlap syndrome. This patient is a member of the Iowa kindred identified by Howe et al. who presumably carries the Iowa familial SMAD4 mutation. The polyps could not be removed endoscopically and a gastrectomy was performed. See also Figure 3 and Figure 11. Courtesy of Douglas Riegert-Johnson, Mayo Clinic Florida.


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Copyright © 2009-, Douglas L Riegert-Johnson.
Bookshelf ID: NBK51310PMID: 21249761


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