Because of the way familial polyposis develops, it is possible to have the genetic condition, and therefore be at risk, but have no polyps or issues so far. Therefore, an individual may be diagnosed "at risk of" FAP, and require routine monitoring, but not (yet) actually have FAP (i.e., carries a defective gene but as yet appears not to have any actual medical issue as a result of this). Clinical management can cover several areas:

- Identifying those individuals who could be at risk of FAP: usually from family medical history or genetic testing

- Diagnosis (confirming whether they have FAP)—this can be done either by genetic testing, which is definitive, or by visually checking the intestinal tract itself.

- Screening / monitoring programs involve visually examining the intestinal tract to check its healthy condition. It is undertaken as a routine matter every few years where there is cause for concern, when either (a) a genetic test has confirmed the risk or (b) a genetic test has not been undertaken for any reason so the actual risk is unknown. Screening and monitoring allows polyposis to be detected visually before it can become life-threatening.

- Treatment, typically surgery of some kind, is involved if polyposis has led to a large number of polyps, or a significant risk of cancer, or actual cancer.

Monitoring involves the provision of outpatient colonoscopy, and occasionally upper gastric tract esophagogastroduodenoscopy (EGD, to search for premalignant gastric or duodenal tumors), typically once every 1–3 years, and/or a genetic blood test to definitively confirm or deny susceptibility. A small number of polyps can often be excised (removed) during the procedure, if found, but if there are more severe signs or numbers, in patient surgery may be required.

NCBI states that when an individual is identified as having FAP, or the mutations resulting in FAP: "It is appropriate to evaluate the parents of an affected individual (a) with molecular genetic testing of APC if the disease-causing mutation is known in the proband [person first identified with the condition] or (b) for clinical manifestations of APC-associated polyposis conditions".

Diet and lifestyle are believed to play a large role in whether colorectal polyps form. Studies show there to be a protective link between consumption of cooked green vegetables, brown rice, legumes, and dried fruit and decreased incidence of colorectal polyps.

Some suggestions for surveillance for cancer include the following:

- Small intestine with small bowel radiography every 2 years,

- Esophagogastroduodenoscopy and colonoscopy every 2 years,

- CT scan or MRI of the pancreas yearly,

- Ultrasound of the pelvis (women) and testes (men) yearly,

- Mammography (women) from age 25 annually livelong, and

- Papanicolaou smear (Pap smear) every year

Follow-up care should be supervised by a physician familiar with Peutz–Jeghers syndrome. Genetic consultation and counseling as well as urological and gynecological consultations are often needed.

Screening for colonic polyps as well as preventing them has become an important part of the management of the condition. Medical societies have established guidelines for colorectal screening in order to prevent adenomatous polyps and to minimize the chances of developing colon cancer. It is believed that some changes in the diet might be helpful in preventing polyps from occurring but there is no other way to prevent the polyps from developing into cancerous growths than by detecting and removing them.

According to the guidelines established by the American Cancer Society, individuals who reach the age of 50 should perform an occult blood test yearly. Colon polyps as they grow can sometimes cause bleeding within the intestine, which can be detected with the help of this test. Also, persons in their 50s are recommended to have flexible sigmoidoscopies performed once in 3 to 5 years to detect any abnormal growth which could be an adenomatous polyp. If adenomatous polyps are detected during this procedure, it is most likely that the patient will have to undergo a colonoscopy. Medical societies recommend colonoscopies every ten years starting at age 50 as a necessary screening practice for colon cancer. The screening provides an accurate image of the intestine and also allows the removal of the polyp, if found. Once an adenomatous polyp is identified during colonoscopy, there are several methods of removal including using a snare or a heating device. Colonoscopies are preferred over sigmoidoscopies because they allow the examination of the entire colon; a very important aspect, considering that more than half of the colonic polyps occur in the upper colon, which is not reached during sigmoidoscopies.

It has been statistically demonstrated that screening programs are effective in reducing the number of deaths caused by colon cancer due to adenomatous polyps. While there are risks of complications associated with colonoscopies, those risks are extremely low at approximately 0.35 percent. For comparison, the lifetime risk of developing colon cancer is around 6 percent. As there is a small likelihood of recurrence, surveillance after polyp removal is recommended.

Genetic testing for mutations in DNA mismatch repair genes is expensive and time-consuming, so researchers have proposed techniques for identifying cancer patients who are most likely to be HNPCC carriers as ideal candidates for genetic testing. The Amsterdam Criteria (see below) are useful, but do not identify up to 30% of potential Lynch syndrome carriers. In colon cancer patients, pathologists can measure microsatellite instability in colon tumor specimens, which is a surrogate marker for DNA mismatch repair gene dysfunction. If there is microsatellite instability identified, there is a higher likelihood for a Lynch syndrome diagnosis. Recently, researchers combined microsatellite instability (MSI) profiling and immunohistochemistry testing for DNA mismatch repair gene expression and identified an extra 32% of Lynch syndrome carriers who would have been missed on MSI profiling alone. Currently, this combined immunohistochemistry and MSI profiling strategy is the most advanced way of identifying candidates for genetic testing for the Lynch syndrome.

Genetic counseling and genetic testing are recommended for families that meet the Amsterdam criteria, preferably before the onset of colon cancer.

Complete removal of a SSA is considered curative.

Several SSAs confer a higher risk of subsequently finding colorectal cancer and warrant more frequent surveillance. The surveillance guidelines are the same as for other colonic adenomas. The surveillance interval is dependent on (1) the number of adenomas, (2) the size of the adenomas, and (3) the presence of high-grade microscopic features.

The following are the Amsterdam criteria in identifying high-risk candidates for molecular genetic testing:

"Amsterdam Criteria (all bullet points must be fulfilled):"

- Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two

- Two successive affected generations

- One or more colon cancers diagnosed under age 50 years

- Familial adenomatous polyposis (FAP) has been excluded

"Amsterdam Criteria II (all bullet points must be fulfilled):"

- Three or more family members with HNPCC-related cancers, one of whom is a first-degree relative of the other two

- Two successive affected generations

- One or more of the HNPCC-related cancers diagnosed under age 50 years

- Familial adenomatous polyposis (FAP) has been excluded

The main criteria for clinical diagnosis are:

- Family history

- Mucocutaneous lesions causing patches of hyperpigmentation in the mouth and on the hands and feet. The oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis. Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek. The mucosa of the lower lip is almost invariably involved as well.

- Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with an extraordinarily low potential for malignancy.

Having 2 of the 3 listed clinical criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as Addison's disease and McCune-Albright syndrome, and these should be included in the differential diagnosis. 90–100% of patients with a clinical diagnosis of PJS have a mutation in the "STK11/LKB1" gene. Molecular genetic testing for this mutation is available clinically.

Colorectal polyps can be detected using a faecal occult blood test, flexible sigmoidoscopy, colonoscopy, virtual colonoscopy, digital rectal examination, barium enema or a pill camera.

Malignant potential is associated with

- degree of dysplasia

- Type of polyp (e.g. villous adenoma):

- Tubular Adenoma: 5% risk of cancer

- Tubulovillous adenoma: 20% risk of cancer

- Villous adenoma: 40% risk of cancer

- Size of polyp:

- <1 cm =<1% risk of cancer

- 1 cm=10% risk of cancer

- 2 cm=15% risk of cancer

Normally an adenoma which is greater than 0.5 cm is treated

There is a risk of development of cancer with fundic gland polyposis, but it varies based on the underlying cause of the polyposis. The risk is highest with congenital polyposis syndromes, and is lowest in acquired causes. As a result, it is recommended that patients with multiple fundic polyps have a colonoscopy to evaluate the colon. If there are polyps seen on colonoscopy, genetic testing and testing of family members is recommended.

In the gastric adenocarcinoma associated with proximal polyposis of the stomach (GAPPS), there is a high risk of early development of proximal gastric adenocarcinoma.

It is still unclear which patients would benefit with surveillance gastroscopy, but most physicians recommend endoscopy every one to three years to survey polyps for dysplasia or cancer. In the event of high grade dysplasia, polypectomy, which is done through the endoscopy, or partial gastrectomy may be recommended. One study showed the benefit of NSAID therapy in regression of gastric polyps, but the efficacy of this strategy (given the side effects of NSAIDs) is still dubious.

People with juvenile polyps may require yearly upper and lower endoscopies with polyp excision and cytology. Their siblings may also need to be screened regularly. Malignant transformation of polyps requires surgical colectomy.

Most juvenile polyps are benign, however, malignancy can occur. The cumulative lifetime risk of colorectal cancer is 39% in patients with juvenile polyposis syndrome.

The serrated polyposis syndrome (SPS) is a relatively rare condition characterized by multiple and/or large serrated polyps of the colon. Diagnosis of this disease is made by the fulfillment of any of the World Health Organization’s (WHO) clinical criteria.

Colon polyps are not commonly associated with symptoms. Occasionally rectal bleeding, and on rare occasions pain, diarrhea or constipation may occur because of colon polyps. Colon polyps are a concern because of the potential for colon cancer being present microscopically and the risk of benign colon polyps transforming over time into malignant ones. Since most polyps are asymptomatic, they are usually discovered at the time of colon cancer screening. Common screening methods are occult blood test, colonoscopy, sigmoidoscopy (usually flexible sigmoidoscopy, using a flexible endoscope, but more rarely the older rigid sigmoidoscopy, using a rigid endoscope), lower gastrointestinal series (barium enema), digital rectal examination (DRE), and virtual colonoscopy. The polyps are routinely removed at the time of colonoscopy either with a polypectomy snare (first description by P. Deyhle, Germany, 1970) or with biopsy forceps. If an adenomatous polyp is found with sigmoidoscopy or if a polyp is found with any other diagnostic modality, the patient must undergo colonoscopy for removal of the polyp(s). Even though colon cancer is usually not found in polyps smaller than 2.5 cm, all polyps found are removed since the removal of polyps reduces the future likelihood of developing colon cancer. When adenomatous polyps are removed, a repeat colonoscopy is usually performed in three to five years.

Most colon polyps can be categorized as sporadic.

Immunohistochemistry is now being used more often to diagnose patients likely to have Muir–Torre syndrome. Sebaceous neoplasms are only infrequently encountered, and immunohistochemistry is reliable and readily available, so researchers have recommended its use. Routine immunohistochemical detection of DNA mismatch repair proteins help identify hereditary DNA mismatch repair deficiency.

Treatment of Muir–Torre syndrome normally consists of oral isotretinoin. The drug has been found to prevent tumor development.

Patients with Muir–Torre syndrome should follow the same stringent screening for colorectal carcinoma and other malignancies as patients with Lynch syndrome. This includes frequent and early colonoscopies, mammograms, dermatologic evaluation, and imaging of the abdomen and pelvis.

CT scan can show the full extent of the polyp, which may not be fully appreciated with physical examination alone. Imaging is also required for planning surgical treatment. On a CT scan, a nasal polyp generally has an attenuation of 10–18 Hounsfield units, which is similar to that of mucus. Nasal polyps may have calcification.

Nasal polyps can be seen on physical examination inside of the nose and are often detected during the evaluation of symptoms. On examination, a polyp will appear as a visible mass in the nostril. Some polyps may be seen with anterior rhinoscopy (looking in the nose with a nasal speculum and a light), but frequently, they are farther back in the nose and must be seen by nasal endoscopy. Nasal endoscopy involves passing a small, rigid camera with a light source into the nose. An image is projected onto a screen in the office so the doctor can examine the nasal passages and sinuses in greater detail. The procedure is not generally painful, but the patient can be given a spray decongestant and local anesthetic to minimize discomfort.

Attempts have been made to develop scoring systems to determine the severity of nasal polyps. Proposed staging systems take into account the extent of polyps seen on endoscopic exam and the number of sinuses affected on CT imaging. This staging system is only partially validated, but in the future, may be useful for communicating the severity of disease, assessing treatment response, and planning treatment.

Fundic gland polyps are found in 0.8 to 1.9% of patients who undergo esophagogastroduodenoscopy, and are more common in middle aged women.

The most important consideration in evaluating patients with FGPs is distinguishing between sporadic form (patients without any other gastrointestinal condition, usually in middle age with female prevalence) and syndromic form. This is to ascertain the risk of development of gastric cancer, and to ascertain the risk of concomitant colon cancer.

FGPs can be found in association with the following genetic conditions:

- familial adenomatous polyposis

- attenuated familial adenomatous polyposis syndromes

- Zollinger-Ellison syndrome

- gastric adenocarcinoma associated with proxymal polyposis of the stomach (GAPPS): this condition, described in three families is characterized by development of antral adenomas and FGPs, with early development of severe dysplasia and gastric cancer, in absence of overt intestinal polyposis. This condition has been recently characterized by a point mutation in exon 1B of APC gene.

Sporadic FGPs have been associated with:

- chronic use of proton pump inhibitors (proposed by some authors, denied by others)

- "Helicobacter pylori" infection: there is a reverse relationship between infection and fundic gland polyps, and infection by "H pylori" causes polyps regression.

Muir–Torre was observed to occur in 14 of 50 families (28%) and in 14 of 152 individuals (9.2%) with Lynch syndrome, also known as HNPCC.

The 2 major MMR proteins involved are hMLH1 and hMSH2. Approximately 70% of tumors associated with the MTS have microsatellite instability. While germline disruption of hMLH1 and hMSH2 is evenly distributed in HNPCC, disruption of hMSH2 is seen in greater than 90% of MTS patients.

Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the most common visceral neoplasm in Muir–Torre syndrome patients.

Treatment:wide excision taking 8mm normal tissue as this is locally malignant. For recurrence radiotherapy is given

There are many diagnostic methods that can be used to determine the type of salivary gland tumour and if it is benign or malignant. Examples of diagnostic methods include:

Physical exam and history: An exam of the body to check general signs of health. The head, neck, mouth, and throat will be checked for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.

Endoscopy: A procedure to look at organs and tissues inside the body to check for abnormal areas. For salivary gland cancer, an endoscope is inserted into the mouth to look at the mouth, throat, and larynx. An endoscope is a thin, tube-like instrument with a light and a lens for viewing.

MRI

Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer.

Fine needle aspiration (FNA) biopsy: The removal of tissue or fluid using a thin needle. An FNA is the most common type of biopsy used for salivary gland cancer, and has been shown to produce accurate results when differentiating between benign and malignant tumours.

Radiographs: An OPG (orthopantomogram) can be taken to rule out mandibular involvement. A chest radiograph may also be taken to rule out any secondary tumours.

Ultrasound: Ultrasound can be used to initially assess a tumour that is located superficially in either the submandibular or parotid gland. It can distinguish an intrinsic from an extrinsic neoplasm. Ultrasonic images of malignant tumours include ill defined margins.

Gardner syndrome, also known as Gardner's syndrome or familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.

Desmoid tumors are fibrous tumors which usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to Gardner syndrome commonly appear in the thyroid, liver and kidneys. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon.

The syndrome was first described in 1951. There is no cure at this time, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.

The most common method of testing for hepatoblastoma is a blood test checking the alpha-fetoprotein level. Alpha-fetoprotein (AFP) is used as a biomarker to help determine the presence of liver cancer in children. At birth, infants have relatively high levels of AFP, which fall to normal adult levels by the first year of life. The normal level for AFP in children has been reported as lower than 50 nanograms per milliliter (ng/ml) and 10 ng/ml. An AFP level greater than 500 (ng/ml) is a significant indicator of hepatoblastoma. AFP is also used as an indicator of treatment success. If treatments are successful in removing the cancer, the AFP level is expected to return to normal.

Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer syndrome. It is a pre-malignant disease that can develop into colorectal cancer. A patient will have fewer than a hundred polyps located typically in right side of the colon. Cancer might develop as early as the age of five, though typically presents later than classical FAP.