Nonneoplastic polyps

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Nonneoplastic polyps

• Dr MJ Ehsani
• Gastroenterologist
• April 16 2009

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Nonneoplastic polyps

• Hyperplastic
• Mucosal
• Inflammatory pseudopolyps
• Submucosal

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Hyperplastic polyps

• The most common nonneoplastic polyp in the colon
• Small nodules or polypoid lesions
• Normal cellular components
• Indistinguishable grossly from adenomatous polyps

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Hyperplastic polyps

• No dysplasia
• Serrated ("saw tooth") pattern
• Proliferation in the basal portion of the crypt
  of hyperplastic polyps.
• Rectosigmoid ,sessile
• less than 5 mm in size
• Rarely, if ever, develop into colorectal cancers.

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Hyperplastic/Adenomatous polyps
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Hyperplastic colonic polyp
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Hyperplastic polyps/prevalence

• Common
• Increased with age
• In 9-10 of asymptomatic,gt50 y (up to 31 )
• Autopsy data 20-35
• Hyperplastic gt adenomatus in diminutive polyps
  of rectum and sigmoid.

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Hyperplastic polyps/Significance

• Proximal neoplasm in 21-25 of patients with
  distal polyp (systematic review)
• Relative risk of any proximal neoplasia 1.3 (95
  percent CI 0.9 to 1.8).
• Risk elevation not clear
• Magnitude of risk small.

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Hyperplastic polyps/Management

• Left-sided hyperplastic polyps not a significant
  marker of colon cancer risk
• Finding them on a screening sigmoidoscopy is not
  a routine indication for colonoscopy.

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Hyperplastic polyposis syndromeDefinition

• Multiple (gt 20) , large polyps (gt 1 cm)
• Proximal hyperplastic polyps
• Serrated adenomas ,adenomas
• Mixed hyperplastic/adenomatous polyps

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WHO Criteria

• At least five hyperplastic polyps proximal to the
  sigmoid colon(two are greater than 1 cm in
  diameter).
• Any number of hyperplastic polyps occurring
  proximal to the sigmoid colon in an individual
  who has a first degree relative with hyperplastic
  polyposis,
• Greater than 30 hyperplastic polyps distributed
  throughout the colon.

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HPS/Course

• Risk of colorectal cancer increased
• Natural history unclear
• Careful surveillance, surgery
• Germline mutation not known

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Management strategies

• Not been well-defined.
• Proximal polyps should be resected
• Increased colonoscopic surveillance has been
  proposed
• Frequency of surveillance no consensus

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HPS/Screening

• First-degree relatives of affected individuals
  Screening colonoscopy
• Beginning at age 40 (or 10 years earlier than the
  earliest age at diagnosis in the family)
• A surveillance interval five years for
  relatives (if no polyps are found).

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Mucosal polyps

• Small (usually lt5 mm) excrescences of tissue
• Endoscopically resemble the adjacent flat mucosa
• Histology normal mucosa.
• No clinical significance.

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Inflammatory pseudopolyps

• Irregularly shaped islands of residual intact
  colonic mucosa
• Mucosal ulceration and regeneration
• Multiple, often filiform and scattered throughout
  the colitic region of the colon.
• Risk factor for colon cancer?
• Associated with surrounding dysplasia

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Pseudopolyps in inflammatory bowel disease
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Submucosal polyps

• Lymphoid aggregates
• Lipomas, leiomyomas
• Pneumatosis cystoid intestinalis
• Colitis cystica profunda/solitary/lt 3 cm
• Hemangiomas
• Fibromas
• Carcinoids
• Metastatic lesions

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Lipoma

• Colonthe most common GI site
• Yellow color
• Softness
• Pillow sign(indentation on gentle pressure)
• Endoscopic ultrasound

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Lymphoid polyps

• Hypertrophied follicles
• Pain,bleeding
• Pedunculate
• Distinction from malignant lymphoid lesions

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lymphoid polyps

• Lymphoid polyps of the colon in a child.

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Hamartomatous polyps Juvenile polyps

• Hamartomatous lesions
• Consist of a lamina propria and dilated cystic
  glands rather than increased numbers of
  epithelial cells
• Retention polyp (distended,mucus filled
  glands,inflammatory cells)
• Any age, more common in childhood(1-2 ).

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Juvenile polyps

• Acquired
• Single
• 3 mm-2 cm
• Bleeding,prolapse
• Malignancy risk not increased
• Removal is suggested

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Juvenile polyps
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Multiple juvenile polyps

• Rare(lt 1 out of 100,000 live births)
• Autosomal dominant inheritance (familial juvenile
  polyposis (FJP)
• Germ-line mutations SMAD4 gene on chromosome
  18q21.1, or in the gene BMPR1A.
• Increased risk for colorectal cancer, and in some
  families, gastric cancer, especially

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Multiple juvenile polyps/FJP

• Symptoms 4 14 y
• 10 or more juvenile polyps
• Rectal bleeding/anemia(75 ),prolapse,
• Adenomatous changes 8 - 47
• Colon cancer risk up to 20 ?
• Cancer risk greatest if gt 3 polyps or FH of
  juvenile polyps.

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FJP/ Screening

• No consensus.
• Asymptomatic first degree relatives should be
  screened
• Annual FOB and flexible sigmoidoscopy or
  colonoscopy every three to five years beginning
  at age 12 and continuing until approximately age
  40.
• Symptomatic patients evaluation regardless of
  age.
• Colonoscopy every one to two years beginning at
  age 15 to 18 (or earlier in patients who
  presented with symptoms) . British Society
  of Gastroenterology

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FJP/ Surveillance

• Gene carriers or affected cases surveillance
  until age 70.
• Colonoscopic polypectomy with regular
  surveillance if only a small number of polyps
  are present .
• Prophylactic surgery With a large number of
  polyps ,multiple polyps with adenomatous change
  and high-grade dysplasia, polyps cannot be
  removed endoscopically , complications (such as
  bleeding) are not easily controlled, colorectal
  cancer is a feature of the family history

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FJP/ Surveillance, cont..

• UGI surveillance has been recommended every one
  to two years beginning at age 25 by upper
  endoscopy/enteroscopy or UGI with SBFT

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Peutz-Jeghers polyps 

• Hamartomatous lesion
• Almost always with the Peutz-Jeghers syndrome.
• Gastrointestinal (gastric, small bowel, colon,
  pancreas) cancer risk increasedand
• Nongastrointestinal cancers risk increased
• Cumulative cancer risk 50 by age 60.

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Colonic Peutz-Jeghers polyp
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PJS

• Autosomal dominant.
• Males /females equal.
• Rare (prevalence between 125,000 and 1280,000).
  
• The PJ gene chromosomal 19p13.3

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Clinical manifestations

• Pigmented mucocutaneous macules
• Multiple gastrointestinal polyps
• Polyps benign, grow progressively ,then
  symptoms ,malignant transformation.

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Pigmented spots

• Mucocutaneous pigmentations gt 95
• Flat, blue-gray to brown spots 1 to 5 mm in size
• Freckles /onset and location.
• PJS lesions on the lips and perioral region
  (94), hands (74), buccal mucosa (66) and feet
  (62)

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Pigmented spots

• Nose, perianal area, and genitals
• Intestinesrare
• Occur during the first one to two years of life,
  increase in size and number over the ensuing
  years, and finally fade after puberty with the
  exception of those on the buccal mucosa.
• Frecklessparse near the nostrils and mouth, are
  absent at birth, and never appear on the buccal
  mucosa.
• Malignant degeneration extremely rare.

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Oral lesions in Peutz-Jeghers syndrome
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Gastrointestinal polyps

• Present in most patients with PJS
• Proliferation of smooth muscle extending into the
  lamina propria in an arborization-like fashion
  the overlying epithelium is normal
• Sessile, pedunculated, lobulated
• Small intestine 64 percent
• Colon 64 percent
• Stomach 49 percent
• Rectum 32 percent

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Polyps in PJS

• Number 1 to gt20 per segment of bowel
• Size variable (0.1 gt 5 cm)
• Grow in the first decade of life
• Symptoms between the age of 10 and 30

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PJS/ Presenting gastrointestinal symptoms

• Obstruction 43 (intussusception ,occlusion of
  the lumen)
• Abdominal pain 23 (infarction)
• Acute or chronic rectal bleeding 14(ulceration)
• Extrusion of the polyp through the rectum 7
• Intussusception Nearly one-half of the patients

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Duodenal peutz-Jeghers polyp
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Peutz-Jeghers polyp
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Diagnosis /Clinical Criteria

• For individuals with a histopathologically
  confirmed hamartoma, a definite diagnosis of PJS
  requires two of the following three findings
• 1. Family history consistent with autosomal
  dominant inheritance
• 2. Mucocutaneous hyperpigmentation
• 3. Small-bowel polyposis

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Diagnosis /Clinical Criteria

• For individuals without histopathologic
  verification of hamartomatous polyps, a probable
  diagnosis of PJS can be made based on the
  presence of two of the three clinical criteria
  above.
• For individuals without a family history of PJS,
  diagnosis depends upon the presence of two or
  more histologically verified Peutz-Jeghers-type
  hamartomatous polyps.
• For individuals with a first-degree relative with
  PJS, presence of mucocutaneous hyperpigmentation
  is sufficient for presumptive diagnosis.

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Risk of malignancy

• The overall risk of developing cancer at ages 20,
  30, 40, 50, 60, and 70 was 1, 3, 19, 32, 63, and
  81 percent, respectively.
• The most common cancers gastrointestinal in
  origin
• The risk for these cancers at ages 30, 40, 50 and
  60 was estimated to be 1, 10, 18, and 42 percent,
  respectively.
• Breast cancer increased (32 percent by age 60).

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Non-gastrointestinal cancers

• lung
• breast
• uterus
• ovary
• cervix
• testies

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Chemoprophylaxis

• Not established
• COX-2 inhibitors
• Rapamycin(Sirolimus)

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PJS/Screening

• All GI cancers 2-13
• Colonoscopy at symptom onset, or in late teenage
  years if the individual is asymptomatic
• Interval is determined by the number of polyps
  but at least q 3 yr
• Upper GI endoscopy q 2 yr start at age 10 yr
• Small intestinal cancer RR, 13 Annual Hgb small
  bowel series or capsule endoscopy q 2 yr start
  at age 10 yr

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PJS/Screening

• Pancreatic cancer RR, 100 Endoscopic or
  abdominal ultrasound q 1-2 yr start at age 30 yr
• Breast cancer RR, 8.8 Annual breast examination
  mammogram q 1-3 yr start at age 25 yr
• Uterine ovarian cancer RR, 8.0 13 Annual pelvic
  examination Pap smear and pelvic ultrasound
  start at age 20 yr
• Sertoli cell tumor (testis)Uncommon Annual
  testicular examination beginning at age 10 yr
  testis ultrasound if the patient has feminizing
  features

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Screening and surveillance

• Genetic testing not yet widely available
• For asymptomatic first degree relatives of
  patients with known PJS screening is
  recommended
• Have not been validated in clinical trials
• Beginning at birth with an annual history,
  physical examination, and evaluation for
  melanotic spots, precocious puberty, and
  testicular tumors.
• Predictive genetic testing can be offered at age
  eight years (in at-risk individuals in whom the
  diagnosis is not already apparent clinically).

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Screening and surveillance

• What type of screening unsettled.
• upper gastrointestinal series every two years
  until age 25 ?
• upper endoscopy, colonoscopy, and small bowel
  series at ages 12, 18, and 24 years ?
• Endoscopic polypectomy for polyps gt1 cm
• Surgery for large polyps
• Clearing the small bowel of polyps at laparotomy

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Surveillance of affected individuals

• Regular surveillance recommended.
• Surveillance detecting cancers of the breast,
  colon, pancreas, stomach and small bowel,
  ovaries, uterus and cervix, and testicles.
• From birth to age 12. In male patients history
  and physical examination with attention to the
  testicles.
• Routine blood tests annually (ultrasound of the
  testicles every two years until age 12 offered as
  an option).

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Surveillance of affected individuals

• For female patients(at age 8) History and
  physical examination with routine blood tests
  annually.
• For males and females upper endoscopy and small
  bowel series if positive, continue every two to
  three years(From age 18)
• In male patients colonoscopy, upper endoscopy,
  and small bowel series every two to three years.
• In female patients Colonoscopy, upper endoscopy,
  and small bowel series every two to three years
  breast self-exam monthly.

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Surveillance of affected individuals

• From age 21 on. For female patients pelvic
  examination with a Papanicolaou smear annually.
• From age 25 on. For male patients endoscopic
  ultrasound of the pancreas every one to two years
  (CT scan and/or CA19-9 offered as options).
• For female patients endoscopic ultrasound of the
  pancreas every one to two years (CT scan and/or
  CA 19-9 offered as options) clinical breast exam
  semiannually mammography annually (MRI offered
  as an alternative) transvaginal ultrasound and
  serum CA-125 annually.

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Cronkhite-Canada syndrome 

• Rare, nonfamilial /Unknown etiology
• Alopecia, cutaneous hyperpigmentation, GI
  polyposis(hamartomas), onychodystrophy, diarrhea,
  weight loss and abdominal pain.
• Do not appear neoplastic pathologically.
• Characteristic features myxoid expansion of the
  lamina propria and increased eosinophils in the
  polyps
• Five-year mortality rates up to 55
• Deaths due to GIB, sepsis, and CHF
• Treatment nutritional support, corticosteroids,
  acid suppression, and antibiotics?

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Thanks for your attention